Mutagenetix > Incidental Mutation

Incidental Mutation 'R1936:Speg'

215756

Institutional Source

Beutler Lab

Gene Symbol

Speg

Ensembl Gene

ENSMUSG00000026207

Gene Name

SPEG complex locus

Synonyms

SPEG, SPEGalpha, SPEGbeta, Apeg1, BPEG, D1Bwg1450e

MMRRC Submission

039954-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1936 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

75351941-75408964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75408052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 3249 (T3249I)

Ref Sequence

ENSEMBL: ENSMUSP00000084361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037796] [ENSMUST00000087122] [ENSMUST00000113584] [ENSMUST00000131545] [ENSMUST00000133418] [ENSMUST00000140287] [ENSMUST00000144874] [ENSMUST00000145166] [ENSMUST00000143730] [ENSMUST00000141124]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037796

SMART Domains

Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	1.2e-30	PFAM
Pfam:NTP_transf_3	4	206	4.1e-10	PFAM
Pfam:Hexapep	280	321	2.6e-8	PFAM
low complexity region	357	365	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087122
AA Change: T3249I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084361
Gene: ENSMUSG00000026207
AA Change: T3249I

Domain	Start	End	E-Value	Type
IG	51	128	1.48e-6	SMART
low complexity region	292	318	N/A	INTRINSIC
low complexity region	325	338	N/A	INTRINSIC
low complexity region	359	368	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
low complexity region	573	584	N/A	INTRINSIC
IGc2	739	806	2.19e-9	SMART
Pfam:SPEG_u2	817	873	2.4e-36	PFAM
IGc2	886	954	4.03e-8	SMART
IG	979	1064	1.05e-6	SMART
IGc2	1081	1148	2.19e-9	SMART
IG	1199	1283	6.87e-2	SMART
FN3	1287	1373	1.38e-4	SMART
IG	1401	1487	2.64e-3	SMART
IGc2	1502	1569	1.12e-6	SMART
STYKc	1606	1859	8.44e-63	SMART
Blast:STYKc	1861	1895	6e-12	BLAST
low complexity region	1918	1939	N/A	INTRINSIC
low complexity region	2069	2081	N/A	INTRINSIC
low complexity region	2208	2227	N/A	INTRINSIC
low complexity region	2230	2249	N/A	INTRINSIC
low complexity region	2255	2269	N/A	INTRINSIC
low complexity region	2343	2366	N/A	INTRINSIC
low complexity region	2410	2422	N/A	INTRINSIC
low complexity region	2433	2451	N/A	INTRINSIC
low complexity region	2457	2487	N/A	INTRINSIC
low complexity region	2524	2544	N/A	INTRINSIC
IGc2	2599	2667	2.05e-9	SMART
FN3	2681	2760	2.5e-2	SMART
low complexity region	2775	2789	N/A	INTRINSIC
low complexity region	2802	2831	N/A	INTRINSIC
low complexity region	2912	2927	N/A	INTRINSIC
STYKc	2961	3213	4.42e-66	SMART
low complexity region	3241	3250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113584

SMART Domains

Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	1.6e-28	PFAM
Pfam:NTP_transf_3	4	206	1.6e-9	PFAM
Pfam:Hexapep	286	321	4.3e-8	PFAM
low complexity region	357	365	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131545

SMART Domains

Protein: ENSMUSP00000120841
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	7.2e-31	PFAM
Pfam:NTP_transf_3	4	157	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133418

SMART Domains

Protein: ENSMUSP00000122443
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	6.8e-31	PFAM
Pfam:NTP_transf_3	4	204	1e-11	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000137868
AA Change: T2996I

Predicted Effect

probably benign
Transcript: ENSMUST00000140287

SMART Domains

Protein: ENSMUSP00000121552
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	161	1.7e-22	PFAM
Pfam:NTP_transf_3	4	155	6.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143679

Predicted Effect

probably benign
Transcript: ENSMUST00000144874

SMART Domains

Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	1	174	6.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145166

SMART Domains

Protein: ENSMUSP00000116754
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	91	5.2e-15	PFAM
Pfam:NTP_transf_3	4	88	1.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143730

SMART Domains

Protein: ENSMUSP00000114375
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	196	1.1e-30	PFAM
Pfam:NTP_transf_3	4	173	9.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141124

SMART Domains

Protein: ENSMUSP00000116783
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	72	1.1e-13	PFAM
Pfam:NTP_transf_3	4	71	1.9e-9	PFAM

Meta Mutation Damage Score

0.1890

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

99% (98/99)

MGI Phenotype

FUNCTION: This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Studies have determined that a lack of this protein affected myocardial development. Multiple alternatively spliced transcript variants that encode different protein isoforms have been defined. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,894,061 (GRCm39)	Q226R	possibly damaging	Het
Abca13	G	A	11: 9,243,595 (GRCm39)	M1819I	probably benign	Het
Abca4	G	A	3: 121,846,572 (GRCm39)	V30M	probably benign	Het
Ablim1	T	A	19: 57,204,397 (GRCm39)		probably null	Het
Adgrf3	A	T	5: 30,407,304 (GRCm39)	N207K	probably benign	Het
Anapc4	T	A	5: 52,997,010 (GRCm39)	D94E	probably damaging	Het
Arfgef2	A	G	2: 166,705,523 (GRCm39)	N918S	probably benign	Het
Arhgap45	A	G	10: 79,866,788 (GRCm39)	N1097S	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
AU016765	G	A	17: 64,826,873 (GRCm39)		noncoding transcript	Het
Brd10	A	G	19: 29,731,077 (GRCm39)	F712S	possibly damaging	Het
Cacna2d2	T	C	9: 107,386,455 (GRCm39)	F194S	probably damaging	Het
Cacna2d4	A	G	6: 119,247,722 (GRCm39)	D341G	possibly damaging	Het
Cdc42bpg	A	G	19: 6,360,339 (GRCm39)	Y175C	probably damaging	Het
Cep170b	G	T	12: 112,702,172 (GRCm39)	D322Y	probably damaging	Het
Cflar	T	A	1: 58,791,784 (GRCm39)	Y362*	probably null	Het
Chml	A	T	1: 175,514,825 (GRCm39)	C365*	probably null	Het
Clrn3	A	C	7: 135,115,753 (GRCm39)	I199S	possibly damaging	Het
Crtam	G	C	9: 40,915,846 (GRCm39)	P13A	probably benign	Het
Defb26	T	A	2: 152,350,195 (GRCm39)	K28N	possibly damaging	Het
Dennd1c	G	A	17: 57,380,889 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,323 (GRCm39)	M761K	possibly damaging	Het
Dnhd1	A	T	7: 105,323,183 (GRCm39)	M564L	probably benign	Het
Dusp15	A	G	2: 152,787,341 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Eapp	A	T	12: 54,720,513 (GRCm39)	M234K	probably benign	Het
Epha8	T	C	4: 136,667,554 (GRCm39)	D309G	probably benign	Het
Gfi1b	T	C	2: 28,500,125 (GRCm39)	K302R	possibly damaging	Het
Gimap3	A	T	6: 48,742,683 (GRCm39)	F82L	probably damaging	Het
Gm4862	T	C	3: 138,834,253 (GRCm39)		noncoding transcript	Het
Gpatch1	A	G	7: 34,994,947 (GRCm39)	S440P	probably damaging	Het
Gpr152	A	G	19: 4,192,531 (GRCm39)	D24G	probably damaging	Het
Gpr6	T	C	10: 40,947,477 (GRCm39)	E35G	probably benign	Het
Hip1r	T	A	5: 124,134,134 (GRCm39)	M270K	probably damaging	Het
Hk3	C	T	13: 55,159,204 (GRCm39)	V451I	probably damaging	Het
Itprid1	G	T	6: 55,874,666 (GRCm39)	L205F	probably damaging	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Klf16	G	A	10: 80,412,739 (GRCm39)	A99V	probably benign	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lvrn	A	T	18: 47,011,387 (GRCm39)	Y448F	probably benign	Het
Mark3	A	G	12: 111,584,799 (GRCm39)	M132V	probably damaging	Het
Mast3	A	G	8: 71,237,444 (GRCm39)	Y577H	probably damaging	Het
Med24	A	T	11: 98,609,642 (GRCm39)		probably null	Het
Mif	G	T	10: 75,695,681 (GRCm39)	H41N	possibly damaging	Het
Myo18b	T	C	5: 112,908,222 (GRCm39)	N2017S	probably benign	Het
Neurl4	C	T	11: 69,797,959 (GRCm39)	R740C	probably damaging	Het
Nlgn1	G	T	3: 26,385,939 (GRCm39)		probably benign	Het
Or10ad1c	T	A	15: 98,085,462 (GRCm39)	H72L	probably benign	Het
Or2ak6	T	A	11: 58,593,172 (GRCm39)	L215Q	probably damaging	Het
Or5t15	A	G	2: 86,681,745 (GRCm39)	M99T	probably benign	Het
Or8b12i	A	G	9: 20,082,477 (GRCm39)	L130P	probably damaging	Het
Paip1	T	A	13: 119,593,550 (GRCm39)	M463K	probably damaging	Het
Parp3	T	A	9: 106,351,931 (GRCm39)	Y147F	probably damaging	Het
Pgrmc2	C	A	3: 41,037,473 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,316,832 (GRCm39)	A278T	probably benign	Het
Plxnb1	T	C	9: 108,924,715 (GRCm39)		probably null	Het
Pphln1	A	G	15: 93,386,868 (GRCm39)	D234G	possibly damaging	Het
Prdm2	T	C	4: 142,861,032 (GRCm39)	S753G	probably benign	Het
Prss32	A	G	17: 24,075,024 (GRCm39)	R125G	possibly damaging	Het
Psg22	A	T	7: 18,453,635 (GRCm39)	N149I	probably damaging	Het
Psmd11	T	C	11: 80,319,570 (GRCm39)	L20P	probably damaging	Het
Recql5	T	C	11: 115,788,017 (GRCm39)	Y434C	probably benign	Het
Rexo1	A	G	10: 80,386,303 (GRCm39)	S252P	probably benign	Het
Sdr9c7	A	G	10: 127,739,503 (GRCm39)	K206R	probably benign	Het
Slc17a8	T	C	10: 89,413,777 (GRCm39)	M484V	probably benign	Het
Slc1a2	A	G	2: 102,607,950 (GRCm39)	N530D	probably benign	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a24	A	T	3: 109,043,581 (GRCm39)	E79D	probably damaging	Het
Smchd1	T	C	17: 71,770,786 (GRCm39)	Y132C	probably damaging	Het
Sorcs1	T	C	19: 50,221,082 (GRCm39)	D545G	probably damaging	Het
Sorcs2	A	G	5: 36,228,731 (GRCm39)	S104P	possibly damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
Tdrd6	A	G	17: 43,937,358 (GRCm39)	L1230P	probably damaging	Het
Tesk2	A	G	4: 116,599,021 (GRCm39)	Y43C	probably benign	Het
Tex101	A	G	7: 24,367,650 (GRCm39)	V234A	probably benign	Het
Tmem161b	T	A	13: 84,441,585 (GRCm39)	L210Q	probably damaging	Het
Tmprss11f	T	A	5: 86,692,723 (GRCm39)	Q67L	probably benign	Het
Tnfrsf23	A	G	7: 143,222,291 (GRCm39)	F174L	probably benign	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Trdmt1	A	G	2: 13,516,420 (GRCm39)	L386P	probably damaging	Het
Trim25	A	T	11: 88,895,576 (GRCm39)	T206S	probably benign	Het
Trit1	T	C	4: 122,948,033 (GRCm39)	I451T	probably benign	Het
Trpc4	T	A	3: 54,187,311 (GRCm39)	M421K	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttn	A	C	2: 76,715,834 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,577,522 (GRCm39)	D24457V	probably damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Vmn2r94	G	A	17: 18,464,554 (GRCm39)	R579*	probably null	Het
Vps72	T	A	3: 95,029,851 (GRCm39)	V290D	probably benign	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zfp26	A	G	9: 20,348,849 (GRCm39)	Y572H	probably benign	Het
Zfp292	A	G	4: 34,807,452 (GRCm39)	V1864A	probably benign	Het
Zfp952	A	T	17: 33,222,643 (GRCm39)	H374L	possibly damaging	Het
Zfy2	C	A	Y: 2,121,496 (GRCm39)	M132I	probably benign	Het

Other mutations in Speg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Speg	APN	1	75,387,034 (GRCm39)	missense	possibly damaging	0.95
IGL00979:Speg	APN	1	75,387,378 (GRCm39)	missense	probably damaging	0.98
IGL01122:Speg	APN	1	75,386,679 (GRCm39)	missense	probably damaging	1.00
IGL01293:Speg	APN	1	75,364,746 (GRCm39)	missense	probably damaging	1.00
IGL01304:Speg	APN	1	75,404,841 (GRCm39)	missense	probably benign	0.00
IGL01351:Speg	APN	1	75,387,920 (GRCm39)	splice site	probably benign
IGL01473:Speg	APN	1	75,404,929 (GRCm39)	missense	possibly damaging	0.53
IGL01477:Speg	APN	1	75,368,541 (GRCm39)	missense	probably damaging	1.00
IGL01485:Speg	APN	1	75,364,471 (GRCm39)	missense	probably damaging	1.00
IGL01584:Speg	APN	1	75,407,581 (GRCm39)	missense	probably damaging	1.00
IGL01959:Speg	APN	1	75,367,734 (GRCm39)	missense	probably damaging	1.00
IGL02231:Speg	APN	1	75,400,031 (GRCm39)	missense	probably damaging	1.00
IGL02355:Speg	APN	1	75,400,559 (GRCm39)	missense	possibly damaging	0.49
IGL02362:Speg	APN	1	75,400,559 (GRCm39)	missense	possibly damaging	0.49
IGL03013:Speg	APN	1	75,407,923 (GRCm39)	missense	probably damaging	0.97
IGL03168:Speg	APN	1	75,364,831 (GRCm39)	missense	probably damaging	1.00
H8562:Speg	UTSW	1	75,392,241 (GRCm39)	missense	probably benign	0.39
R0112:Speg	UTSW	1	75,361,676 (GRCm39)	missense	possibly damaging	0.92
R0311:Speg	UTSW	1	75,407,581 (GRCm39)	missense	probably damaging	1.00
R0315:Speg	UTSW	1	75,391,780 (GRCm39)	missense	possibly damaging	0.88
R0393:Speg	UTSW	1	75,400,568 (GRCm39)	missense	possibly damaging	0.46
R0403:Speg	UTSW	1	75,407,428 (GRCm39)	splice site	probably benign
R0483:Speg	UTSW	1	75,361,676 (GRCm39)	missense	possibly damaging	0.92
R0648:Speg	UTSW	1	75,404,622 (GRCm39)	missense	probably benign
R0683:Speg	UTSW	1	75,405,762 (GRCm39)	missense	probably damaging	1.00
R0800:Speg	UTSW	1	75,400,133 (GRCm39)	missense	probably damaging	1.00
R0815:Speg	UTSW	1	75,392,036 (GRCm39)	missense	probably damaging	1.00
R0835:Speg	UTSW	1	75,352,318 (GRCm39)	missense	probably benign	0.00
R0866:Speg	UTSW	1	75,393,727 (GRCm39)	missense	probably damaging	0.99
R0880:Speg	UTSW	1	75,381,705 (GRCm39)	missense	probably damaging	1.00
R1082:Speg	UTSW	1	75,391,782 (GRCm39)	missense	possibly damaging	0.94
R1140:Speg	UTSW	1	75,405,739 (GRCm39)	missense	probably damaging	1.00
R1252:Speg	UTSW	1	75,403,739 (GRCm39)	missense	probably damaging	1.00
R1301:Speg	UTSW	1	75,378,145 (GRCm39)	missense	probably damaging	1.00
R1348:Speg	UTSW	1	75,399,516 (GRCm39)	missense	probably damaging	0.99
R1388:Speg	UTSW	1	75,407,104 (GRCm39)	missense	probably damaging	0.99
R1465:Speg	UTSW	1	75,405,128 (GRCm39)	splice site	probably benign
R1505:Speg	UTSW	1	75,352,186 (GRCm39)	missense	probably benign	0.02
R1506:Speg	UTSW	1	75,394,307 (GRCm39)	missense	probably benign	0.03
R1531:Speg	UTSW	1	75,377,866 (GRCm39)	missense	possibly damaging	0.86
R1543:Speg	UTSW	1	75,398,595 (GRCm39)	missense	probably damaging	1.00
R1567:Speg	UTSW	1	75,404,691 (GRCm39)	missense	probably benign
R1630:Speg	UTSW	1	75,399,621 (GRCm39)	missense	probably damaging	1.00
R1667:Speg	UTSW	1	75,387,193 (GRCm39)	splice site	probably benign
R1673:Speg	UTSW	1	75,387,807 (GRCm39)	missense	possibly damaging	0.60
R1718:Speg	UTSW	1	75,398,388 (GRCm39)	missense	possibly damaging	0.87
R1718:Speg	UTSW	1	75,394,507 (GRCm39)	missense	probably benign	0.00
R1719:Speg	UTSW	1	75,394,507 (GRCm39)	missense	probably benign	0.00
R1759:Speg	UTSW	1	75,377,806 (GRCm39)	missense	possibly damaging	0.95
R1861:Speg	UTSW	1	75,365,649 (GRCm39)	missense	probably damaging	1.00
R1874:Speg	UTSW	1	75,400,550 (GRCm39)	missense	probably benign
R2192:Speg	UTSW	1	75,394,371 (GRCm39)	missense	probably damaging	1.00
R2204:Speg	UTSW	1	75,407,121 (GRCm39)	missense	probably benign	0.30
R2287:Speg	UTSW	1	75,407,109 (GRCm39)	missense	possibly damaging	0.76
R2696:Speg	UTSW	1	75,383,570 (GRCm39)	missense	probably benign	0.27
R2983:Speg	UTSW	1	75,361,574 (GRCm39)	missense	possibly damaging	0.83
R3110:Speg	UTSW	1	75,399,326 (GRCm39)	nonsense	probably null
R3112:Speg	UTSW	1	75,399,326 (GRCm39)	nonsense	probably null
R3154:Speg	UTSW	1	75,378,186 (GRCm39)	missense	probably damaging	1.00
R3720:Speg	UTSW	1	75,403,426 (GRCm39)	missense	probably damaging	1.00
R3983:Speg	UTSW	1	75,399,191 (GRCm39)	missense	probably benign	0.27
R4133:Speg	UTSW	1	75,404,548 (GRCm39)	missense	probably benign
R4522:Speg	UTSW	1	75,404,974 (GRCm39)	missense	probably damaging	1.00
R4564:Speg	UTSW	1	75,368,478 (GRCm39)	missense	probably damaging	1.00
R4577:Speg	UTSW	1	75,392,039 (GRCm39)	missense	probably damaging	1.00
R4858:Speg	UTSW	1	75,398,379 (GRCm39)	missense	probably damaging	1.00
R4953:Speg	UTSW	1	75,400,508 (GRCm39)	missense	possibly damaging	0.72
R4965:Speg	UTSW	1	75,404,347 (GRCm39)	missense	probably damaging	1.00
R4967:Speg	UTSW	1	75,364,513 (GRCm39)	missense	probably damaging	1.00
R5152:Speg	UTSW	1	75,404,742 (GRCm39)	missense	possibly damaging	0.92
R5156:Speg	UTSW	1	75,404,731 (GRCm39)	missense	probably damaging	0.99
R5371:Speg	UTSW	1	75,408,037 (GRCm39)	missense	possibly damaging	0.50
R5550:Speg	UTSW	1	75,405,744 (GRCm39)	missense	probably damaging	1.00
R5562:Speg	UTSW	1	75,403,700 (GRCm39)	missense	probably damaging	1.00
R5687:Speg	UTSW	1	75,395,773 (GRCm39)	splice site	probably null
R5985:Speg	UTSW	1	75,383,328 (GRCm39)	missense	possibly damaging	0.94
R6004:Speg	UTSW	1	75,392,247 (GRCm39)	nonsense	probably null
R6038:Speg	UTSW	1	75,395,103 (GRCm39)	critical splice donor site	probably null
R6038:Speg	UTSW	1	75,395,103 (GRCm39)	critical splice donor site	probably null
R6143:Speg	UTSW	1	75,391,031 (GRCm39)	missense	probably damaging	1.00
R6265:Speg	UTSW	1	75,383,323 (GRCm39)	nonsense	probably null
R6347:Speg	UTSW	1	75,403,519 (GRCm39)	missense	probably benign	0.00
R6453:Speg	UTSW	1	75,394,616 (GRCm39)	missense	probably benign	0.06
R6505:Speg	UTSW	1	75,406,167 (GRCm39)	missense	possibly damaging	0.93
R6505:Speg	UTSW	1	75,383,328 (GRCm39)	missense	possibly damaging	0.94
R6531:Speg	UTSW	1	75,399,401 (GRCm39)	missense	probably benign	0.03
R6566:Speg	UTSW	1	75,365,107 (GRCm39)	missense	probably damaging	1.00
R6747:Speg	UTSW	1	75,387,039 (GRCm39)	critical splice donor site	probably null
R6819:Speg	UTSW	1	75,368,456 (GRCm39)	missense	possibly damaging	0.56
R6821:Speg	UTSW	1	75,394,547 (GRCm39)	missense	possibly damaging	0.83
R6919:Speg	UTSW	1	75,364,552 (GRCm39)	nonsense	probably null
R6981:Speg	UTSW	1	75,407,557 (GRCm39)	missense	probably damaging	1.00
R7002:Speg	UTSW	1	75,399,912 (GRCm39)	missense	probably damaging	0.98
R7082:Speg	UTSW	1	75,388,091 (GRCm39)	missense	probably damaging	0.96
R7140:Speg	UTSW	1	75,383,414 (GRCm39)	critical splice donor site	probably null
R7175:Speg	UTSW	1	75,399,134 (GRCm39)	missense	probably benign	0.01
R7178:Speg	UTSW	1	75,399,027 (GRCm39)	missense	possibly damaging	0.46
R7345:Speg	UTSW	1	75,361,479 (GRCm39)	missense	probably damaging	0.97
R7420:Speg	UTSW	1	75,407,549 (GRCm39)	missense	probably damaging	1.00
R7537:Speg	UTSW	1	75,378,108 (GRCm39)	missense	probably damaging	1.00
R7562:Speg	UTSW	1	75,407,923 (GRCm39)	missense	probably damaging	0.97
R7615:Speg	UTSW	1	75,405,886 (GRCm39)	missense	probably damaging	1.00
R7679:Speg	UTSW	1	75,382,959 (GRCm39)	missense	probably damaging	1.00
R7692:Speg	UTSW	1	75,377,834 (GRCm39)	missense	probably benign	0.04
R7696:Speg	UTSW	1	75,405,805 (GRCm39)	missense	probably damaging	1.00
R7719:Speg	UTSW	1	75,352,469 (GRCm39)	missense	probably damaging	1.00
R7794:Speg	UTSW	1	75,365,514 (GRCm39)	missense	probably benign	0.00
R7824:Speg	UTSW	1	75,360,661 (GRCm39)	splice site	probably null
R7834:Speg	UTSW	1	75,361,571 (GRCm39)	missense	probably damaging	1.00
R7892:Speg	UTSW	1	75,403,810 (GRCm39)	missense	probably damaging	1.00
R8015:Speg	UTSW	1	75,392,065 (GRCm39)	splice site	probably benign
R8068:Speg	UTSW	1	75,398,894 (GRCm39)	missense	probably damaging	1.00
R8085:Speg	UTSW	1	75,391,997 (GRCm39)	missense	probably damaging	1.00
R8130:Speg	UTSW	1	75,392,240 (GRCm39)	missense	probably damaging	1.00
R8132:Speg	UTSW	1	75,399,639 (GRCm39)	missense	probably damaging	1.00
R8239:Speg	UTSW	1	75,395,677 (GRCm39)	missense	probably damaging	1.00
R8287:Speg	UTSW	1	75,398,880 (GRCm39)	missense	probably benign	0.26
R8299:Speg	UTSW	1	75,364,480 (GRCm39)	missense	possibly damaging	0.95
R8441:Speg	UTSW	1	75,387,976 (GRCm39)	missense	possibly damaging	0.60
R8468:Speg	UTSW	1	75,407,953 (GRCm39)	missense	probably damaging	1.00
R8555:Speg	UTSW	1	75,378,908 (GRCm39)	splice site	probably null
R8781:Speg	UTSW	1	75,383,665 (GRCm39)	missense	probably damaging	1.00
R8784:Speg	UTSW	1	75,381,793 (GRCm39)	critical splice donor site	probably benign
R8848:Speg	UTSW	1	75,404,082 (GRCm39)	critical splice donor site	probably null
R8881:Speg	UTSW	1	75,377,795 (GRCm39)	missense	possibly damaging	0.67
R8898:Speg	UTSW	1	75,365,517 (GRCm39)	missense	probably damaging	1.00
R8935:Speg	UTSW	1	75,399,250 (GRCm39)	missense	probably benign	0.30
R9019:Speg	UTSW	1	75,405,882 (GRCm39)	missense	probably damaging	1.00
R9027:Speg	UTSW	1	75,365,076 (GRCm39)	missense	possibly damaging	0.67
R9066:Speg	UTSW	1	75,361,654 (GRCm39)	missense	probably damaging	0.99
R9092:Speg	UTSW	1	75,399,378 (GRCm39)	missense	probably benign	0.01
R9117:Speg	UTSW	1	75,364,444 (GRCm39)	missense	probably damaging	1.00
R9202:Speg	UTSW	1	75,367,637 (GRCm39)	missense	probably damaging	1.00
R9246:Speg	UTSW	1	75,361,498 (GRCm39)	missense	probably damaging	1.00
R9248:Speg	UTSW	1	75,398,420 (GRCm39)	missense	probably damaging	1.00
R9451:Speg	UTSW	1	75,394,377 (GRCm39)	missense	probably damaging	1.00
R9452:Speg	UTSW	1	75,399,152 (GRCm39)	missense	probably benign
R9475:Speg	UTSW	1	75,364,735 (GRCm39)	missense	probably damaging	1.00
R9476:Speg	UTSW	1	75,377,768 (GRCm39)	missense	probably damaging	0.99
R9510:Speg	UTSW	1	75,377,768 (GRCm39)	missense	probably damaging	0.99
R9519:Speg	UTSW	1	75,392,380 (GRCm39)	missense	probably damaging	1.00
R9528:Speg	UTSW	1	75,364,447 (GRCm39)	missense	possibly damaging	0.78
R9542:Speg	UTSW	1	75,399,426 (GRCm39)	missense	probably benign	0.08
R9553:Speg	UTSW	1	75,394,645 (GRCm39)	missense	probably benign	0.00
R9767:Speg	UTSW	1	75,403,825 (GRCm39)	missense	possibly damaging	0.78
R9768:Speg	UTSW	1	75,395,617 (GRCm39)	nonsense	probably null
R9800:Speg	UTSW	1	75,399,358 (GRCm39)	missense	probably benign	0.03
X0025:Speg	UTSW	1	75,399,101 (GRCm39)	missense	probably damaging	1.00
X0026:Speg	UTSW	1	75,400,119 (GRCm39)	missense	possibly damaging	0.88
Z1176:Speg	UTSW	1	75,383,238 (GRCm39)	missense	probably damaging	1.00
Z1177:Speg	UTSW	1	75,404,327 (GRCm39)	missense	probably damaging	1.00
Z1177:Speg	UTSW	1	75,407,099 (GRCm39)	missense	probably damaging	0.99
Z1177:Speg	UTSW	1	75,405,025 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCTTCTTTCCTGGTTCATG -3'
(R):5'- GTCCATGAGGTAATAGCCCAGC -3'

Sequencing Primer
(F):5'- CATGATCTCTGGCTTGCCTGG -3'
(R):5'- GTAATAGCCCAGCCAGATGTTGC -3'

Posted On

2014-07-14