Mutagenetix > Incidental Mutation

Incidental Mutation 'R1759:Speg'

195149

Institutional Source

Beutler Lab

Gene Symbol

Speg

Ensembl Gene

ENSMUSG00000026207

Gene Name

SPEG complex locus

Synonyms

SPEG, SPEGalpha, SPEGbeta, Apeg1, BPEG, D1Bwg1450e

MMRRC Submission

039791-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75351941-75408964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75377806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 855 (M855L)

Ref Sequence

ENSEMBL: ENSMUSP00000084361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087122] [ENSMUST00000113587] [ENSMUST00000113588] [ENSMUST00000113589] [ENSMUST00000113590] [ENSMUST00000122266]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087122
AA Change: M855L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000084361
Gene: ENSMUSG00000026207
AA Change: M855L

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: ENSMUST00000113587
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000109217
Gene: ENSMUSG00000026207
AA Change: M1L

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
IGc2	32	100	4.03e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113588
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000109218
Gene: ENSMUSG00000026207
AA Change: M1L

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
IGc2	32	100	4.03e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113589
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000109219
Gene: ENSMUSG00000026207
AA Change: M1L

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
IGc2	32	100	4.03e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113590
AA Change: M749L

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109220
Gene: ENSMUSG00000026207
AA Change: M749L

Domain	Start	End	E-Value	Type
low complexity region	186	212	N/A	INTRINSIC
low complexity region	219	232	N/A	INTRINSIC
low complexity region	253	262	N/A	INTRINSIC
low complexity region	306	317	N/A	INTRINSIC
low complexity region	467	478	N/A	INTRINSIC
IGc2	633	700	2.19e-9	SMART
low complexity region	752	764	N/A	INTRINSIC
IGc2	780	848	4.03e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122266
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000113646
Gene: ENSMUSG00000026207
AA Change: M1L

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
IGc2	32	100	4.03e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132100

Predicted Effect

unknown
Transcript: ENSMUST00000137868
AA Change: M602L

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.5%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,272 (GRCm39)	M53L	possibly damaging	Het
Abca5	T	C	11: 110,184,674 (GRCm39)	D944G	probably benign	Het
Ankdd1b	T	C	13: 96,556,211 (GRCm39)	Y433C	probably damaging	Het
Aox3	A	G	1: 58,209,805 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,559,853 (GRCm39)	G260E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp13a4	T	A	16: 29,275,429 (GRCm39)	T352S	probably damaging	Het
Ccdc33	T	A	9: 58,024,729 (GRCm39)	N166Y	possibly damaging	Het
Ces2h	T	A	8: 105,743,243 (GRCm39)	D159E	probably damaging	Het
Chd1	T	A	17: 17,607,533 (GRCm39)	D360E	probably benign	Het
Col16a1	G	T	4: 129,978,062 (GRCm39)	G781V	probably damaging	Het
Col6a5	T	A	9: 105,808,045 (GRCm39)	E1001V	unknown	Het
Cracdl	A	T	1: 37,664,791 (GRCm39)	I369N	probably benign	Het
Cyp3a59	T	G	5: 146,035,060 (GRCm39)	M246R	probably benign	Het
Dcn	T	C	10: 97,349,517 (GRCm39)	V263A	probably benign	Het
Dnttip2	A	G	3: 122,069,798 (GRCm39)	N338D	probably benign	Het
Entpd1	G	T	19: 40,600,968 (GRCm39)		probably null	Het
Epb41l1	A	G	2: 156,363,894 (GRCm39)	D801G	probably benign	Het
Fam186a	T	A	15: 99,864,762 (GRCm39)	K23*	probably null	Het
Gbe1	T	C	16: 70,284,929 (GRCm39)	M417T	probably benign	Het
Gmnc	T	A	16: 26,784,497 (GRCm39)	S3C	possibly damaging	Het
Gpr156	T	C	16: 37,768,583 (GRCm39)	S35P	probably damaging	Het
Grid1	T	C	14: 35,167,988 (GRCm39)	M504T	possibly damaging	Het
Gsdma3	T	C	11: 98,526,071 (GRCm39)	V265A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,399 (GRCm39)	I308N	probably damaging	Het
Inpp4b	A	G	8: 82,494,732 (GRCm39)	D49G	probably benign	Het
Ipmk	C	A	10: 71,217,133 (GRCm39)	Q227K	probably damaging	Het
Kalrn	T	A	16: 34,181,320 (GRCm39)	D88V	probably damaging	Het
Kansl1l	C	T	1: 66,841,047 (GRCm39)	M84I	probably damaging	Het
Kcnab2	T	G	4: 152,477,509 (GRCm39)	K363Q	probably damaging	Het
Kdm7a	C	A	6: 39,124,633 (GRCm39)		probably null	Het
Kiss1r	T	C	10: 79,757,612 (GRCm39)	L322P	probably damaging	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lrpprc	T	C	17: 85,047,509 (GRCm39)	K908E	probably damaging	Het
Mak	C	A	13: 41,210,110 (GRCm39)	W42L	probably damaging	Het
Map3k21	A	G	8: 126,671,519 (GRCm39)	T936A	probably benign	Het
Marchf7	C	T	2: 60,064,888 (GRCm39)	S388F	probably damaging	Het
Matcap1	A	T	8: 106,012,182 (GRCm39)	S88R	probably damaging	Het
Mgat2	A	T	12: 69,232,301 (GRCm39)	I292F	probably benign	Het
Myh3	C	A	11: 66,987,717 (GRCm39)	R1397S	probably damaging	Het
Myo5a	A	G	9: 75,089,275 (GRCm39)	D1135G	possibly damaging	Het
N4bp2	A	G	5: 65,983,956 (GRCm39)	E1667G	probably damaging	Het
Nbr1	A	G	11: 101,450,369 (GRCm39)	T43A	probably damaging	Het
Nip7	A	G	8: 107,784,767 (GRCm39)	N124S	probably benign	Het
Or3a1	G	A	11: 74,225,808 (GRCm39)	S83F	possibly damaging	Het
Or51l14	T	C	7: 103,101,356 (GRCm39)	S271P	probably benign	Het
Or6c75	T	A	10: 129,336,775 (GRCm39)	S7R	probably benign	Het
Or7g25	C	T	9: 19,160,384 (GRCm39)	V104I	probably benign	Het
Or8b55	T	C	9: 38,727,194 (GRCm39)	Y132H	probably damaging	Het
Otoa	T	C	7: 120,733,326 (GRCm39)	L731P	probably damaging	Het
Pcnx2	G	A	8: 126,500,717 (GRCm39)	P1458S	probably damaging	Het
Pfpl	A	G	19: 12,407,224 (GRCm39)	T492A	probably damaging	Het
Pgm1	A	G	4: 99,824,305 (GRCm39)	D326G	probably damaging	Het
Plekhh1	T	A	12: 79,119,535 (GRCm39)	Y953N	probably damaging	Het
Pnkd	G	A	1: 74,387,922 (GRCm39)	A195T	probably damaging	Het
Ppib	C	T	9: 65,968,764 (GRCm39)	Q51*	probably null	Het
Ppip5k1	G	T	2: 121,181,067 (GRCm39)	T13K	probably benign	Het
Psmg2	A	T	18: 67,781,246 (GRCm39)	S113C	probably benign	Het
Rapgef2	A	G	3: 78,974,038 (GRCm39)	M1584T	possibly damaging	Het
Rbm12b1	A	C	4: 12,145,424 (GRCm39)	R465S	probably damaging	Het
Reln	A	G	5: 22,215,287 (GRCm39)	Y1055H	probably damaging	Het
Ros1	A	T	10: 51,996,922 (GRCm39)	I1250K	probably damaging	Het
Samd9l	C	A	6: 3,373,401 (GRCm39)	V1287F	probably damaging	Het
Sgce	A	T	6: 4,689,765 (GRCm39)	I356N	probably damaging	Het
Sh3tc1	C	T	5: 35,863,248 (GRCm39)	E980K	possibly damaging	Het
Sil1	T	C	18: 35,551,151 (GRCm39)	E68G	possibly damaging	Het
Slc18a1	A	G	8: 69,518,237 (GRCm39)	I259T	possibly damaging	Het
Slc6a20b	A	C	9: 123,438,062 (GRCm39)		probably null	Het
Smg7	G	T	1: 152,724,597 (GRCm39)	T536K	probably benign	Het
Smyd4	A	G	11: 75,273,192 (GRCm39)	Y84C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,216,056 (GRCm39)	*50C	probably null	Het
Srrt	G	T	5: 137,301,212 (GRCm39)	H71Q	probably damaging	Het
St6galnac5	A	G	3: 152,552,130 (GRCm39)	S146P	probably damaging	Het
Syne1	T	A	10: 5,299,369 (GRCm39)	Q962L	probably damaging	Het
Tiam2	A	G	17: 3,566,278 (GRCm39)	H1441R	probably damaging	Het
Tmem45a	C	T	16: 56,642,765 (GRCm39)	M135I	probably benign	Het
Tpr	A	T	1: 150,305,275 (GRCm39)	E1521D	probably benign	Het
Uba3	C	T	6: 97,173,865 (GRCm39)	G107R	probably damaging	Het
Unc45b	G	T	11: 82,820,325 (GRCm39)	V590F	probably benign	Het
Vmn1r14	A	T	6: 57,211,297 (GRCm39)	T292S	probably benign	Het
Vmn2r102	T	A	17: 19,914,755 (GRCm39)	N773K	probably damaging	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Wfs1	G	C	5: 37,124,359 (GRCm39)	A844G	probably damaging	Het
Zfp398	A	G	6: 47,836,412 (GRCm39)	T71A	possibly damaging	Het
Zfp507	C	A	7: 35,475,403 (GRCm39)	A145S	probably damaging	Het
Zfp971	A	T	2: 177,675,722 (GRCm39)	E440D	probably damaging	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
R1861:Speg	UTSW	1	75,365,649 (GRCm39)	missense	probably damaging	1.00
R1874:Speg	UTSW	1	75,400,550 (GRCm39)	missense	probably benign
R1936:Speg	UTSW	1	75,408,052 (GRCm39)	missense	possibly damaging	0.93
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'- CCTCTAAAGCCATCAGTGGCTCTTC -3'
(R):5'- ATGCCAAAGCATCAGGGGTGAC -3'

Sequencing Primer
(F):5'- CTAACATGAGGATAGGCTTTGGC -3'
(R):5'- TCCAGGTCACAAGGGTTAACG -3'

Posted On

2014-05-23