Mutagenetix > Incidental Mutation

Incidental Mutation 'R4965:Speg'

383855

Institutional Source

Beutler Lab

Gene Symbol

Speg

Ensembl Gene

ENSMUSG00000026207

Gene Name

SPEG complex locus

Synonyms

SPEGbeta, Apeg1, SPEGalpha, D1Bwg1450e, SPEG, BPEG

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75375297-75432320 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75427703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 2751 (V2751L)

Ref Sequence

ENSEMBL: ENSMUSP00000084361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087122]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000087122
AA Change: V2751L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084361
Gene: ENSMUSG00000026207
AA Change: V2751L

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

unknown
Transcript: ENSMUST00000137868
AA Change: V2498L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143679

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,069,672 (GRCm38)	T1541A	probably benign	Het
4931423N10Rik	C	A	2: 23,245,115 (GRCm38)	T312K	probably benign	Het
9530002B09Rik	T	C	4: 122,700,492 (GRCm38)	M59T	probably benign	Het
Adam18	C	T	8: 24,641,811 (GRCm38)	C428Y	probably damaging	Het
Adcy5	A	G	16: 35,278,502 (GRCm38)	E700G	possibly damaging	Het
Adprh	G	T	16: 38,445,780 (GRCm38)	Y333*	probably null	Het
Agfg2	C	A	5: 137,667,177 (GRCm38)		probably null	Het
Akip1	A	T	7: 109,711,754 (GRCm38)	E167V	probably damaging	Het
Akr1c21	A	T	13: 4,580,305 (GRCm38)	Q199L	probably damaging	Het
Aldh9a1	C	A	1: 167,365,789 (GRCm38)	A455E	probably damaging	Het
Amph	G	A	13: 19,137,699 (GRCm38)	S520N	probably benign	Het
Ankrd52	A	G	10: 128,390,507 (GRCm38)	D1006G	probably benign	Het
Ap5z1	A	C	5: 142,467,676 (GRCm38)	Q133P	probably damaging	Het
Babam1	C	T	8: 71,404,388 (GRCm38)	A331V	possibly damaging	Het
Btc	T	C	5: 91,362,301 (GRCm38)		probably null	Het
Cacna2d3	A	G	14: 28,982,332 (GRCm38)	F831L	probably benign	Het
Cadm3	G	A	1: 173,337,097 (GRCm38)	P372L	probably damaging	Het
Capn5	A	T	7: 98,126,417 (GRCm38)	M439K	probably damaging	Het
Carf	T	C	1: 60,150,637 (GRCm38)	S639P	probably damaging	Het
Casp12	C	T	9: 5,352,250 (GRCm38)	R81C	probably benign	Het
Ces2e	G	T	8: 104,933,698 (GRCm38)	R555M	probably benign	Het
Cfap54	T	A	10: 93,066,799 (GRCm38)	I164F	probably benign	Het
Cltc	C	T	11: 86,707,501 (GRCm38)	V1012I	probably damaging	Het
Cmya5	G	A	13: 93,095,787 (GRCm38)	T931I	possibly damaging	Het
Cntn6	A	G	6: 104,774,474 (GRCm38)	I364V	probably damaging	Het
Cntnap1	A	T	11: 101,177,425 (GRCm38)	I59F	possibly damaging	Het
Cop1	T	C	1: 159,239,597 (GRCm38)	M80T	probably damaging	Het
Cplx2	A	G	13: 54,379,647 (GRCm38)	S115G	possibly damaging	Het
Crtac1	A	G	19: 42,318,740 (GRCm38)	Y195H	probably damaging	Het
Csn1s2a	A	C	5: 87,781,838 (GRCm38)	S99R	possibly damaging	Het
Csn1s2b	T	A	5: 87,813,961 (GRCm38)	D41E	possibly damaging	Het
Cul9	C	T	17: 46,538,525 (GRCm38)	D565N	probably damaging	Het
Cux1	A	T	5: 136,311,556 (GRCm38)	N625K	possibly damaging	Het
Cyp2c37	A	T	19: 40,011,762 (GRCm38)	M443L	possibly damaging	Het
Cyp2s1	G	A	7: 25,809,285 (GRCm38)	T244I	possibly damaging	Het
Dgkh	C	T	14: 78,624,421 (GRCm38)	V135M	probably damaging	Het
Dtl	T	C	1: 191,546,565 (GRCm38)	E395G	possibly damaging	Het
Dyrk1a	G	T	16: 94,691,995 (GRCm38)	G658*	probably null	Het
Erlin2	T	C	8: 27,029,595 (GRCm38)	F117S	probably damaging	Het
Fkbp8	A	G	8: 70,531,523 (GRCm38)		probably null	Het
Fras1	T	C	5: 96,726,580 (GRCm38)	F2288S	possibly damaging	Het
Frmd3	A	G	4: 74,153,600 (GRCm38)	T240A	probably damaging	Het
H2-D1	A	G	17: 35,263,905 (GRCm38)	Y137C	probably damaging	Het
Helz2	A	G	2: 181,240,916 (GRCm38)	V28A	possibly damaging	Het
Hydin	A	G	8: 110,398,095 (GRCm38)	I579V	probably benign	Het
Il6	A	T	5: 30,013,493 (GRCm38)	Y29F	possibly damaging	Het
Ildr2	A	G	1: 166,307,840 (GRCm38)	D368G	probably damaging	Het
Junb	T	A	8: 84,978,159 (GRCm38)	I91F	probably damaging	Het
Kat2a	A	T	11: 100,712,204 (GRCm38)		probably benign	Het
Kat2a	C	A	11: 100,712,203 (GRCm38)		probably benign	Het
Kcnh5	T	A	12: 74,965,151 (GRCm38)	T665S	probably benign	Het
Kdm1b	A	T	13: 47,074,367 (GRCm38)	D608V	probably damaging	Het
Krcc1	A	G	6: 71,284,637 (GRCm38)	K218E	probably damaging	Het
Krt8	C	T	15: 101,996,951 (GRCm38)	V488M	probably benign	Het
Lzts1	C	T	8: 69,138,762 (GRCm38)	A245T	probably benign	Het
Mcm6	T	A	1: 128,359,486 (GRCm38)	Q27L	probably damaging	Het
Mfsd4b3-ps	G	T	10: 39,947,690 (GRCm38)	Y191*	probably null	Het
Mgme1	T	C	2: 144,279,620 (GRCm38)	L332P	probably benign	Het
Mgme1	C	T	2: 144,276,404 (GRCm38)	Q199*	probably null	Het
Morc3	G	T	16: 93,860,587 (GRCm38)	E25*	probably null	Het
Mroh7	G	A	4: 106,690,987 (GRCm38)	A1098V	possibly damaging	Het
Mtrf1	G	A	14: 79,406,587 (GRCm38)	R174H	probably benign	Het
Mybpc3	G	A	2: 91,119,247 (GRCm38)	G45D	possibly damaging	Het
Mycbpap	A	T	11: 94,504,938 (GRCm38)	N733K	probably damaging	Het
N4bp1	T	C	8: 86,851,686 (GRCm38)	I684V	possibly damaging	Het
Nav2	A	T	7: 49,552,877 (GRCm38)	R1470*	probably null	Het
Ndufa9	A	T	6: 126,822,063 (GRCm38)	S364T	probably benign	Het
Nipal4	C	A	11: 46,162,010 (GRCm38)	A43S	possibly damaging	Het
Nlrp1a	T	A	11: 71,092,315 (GRCm38)	Y1275F	possibly damaging	Het
Nova1	A	T	12: 46,720,835 (GRCm38)	L8*	probably null	Het
Odam	G	T	5: 87,890,108 (GRCm38)	G181*	probably null	Het
Optn	T	A	2: 5,021,379 (GRCm38)	Q576L	probably benign	Het
Or2c1	T	C	16: 3,839,570 (GRCm38)	L199P	probably damaging	Het
Or4k47	T	C	2: 111,621,534 (GRCm38)	D180G	probably damaging	Het
Or4l1	C	T	14: 49,928,897 (GRCm38)	V216I	probably benign	Het
Or51a39	A	T	7: 102,713,495 (GRCm38)	I306N	probably damaging	Het
Or5as1	T	A	2: 87,150,659 (GRCm38)	M1L	possibly damaging	Het
Or5h18	A	T	16: 59,027,333 (GRCm38)	D191E	probably damaging	Het
Or8s2	T	C	15: 98,379,149 (GRCm38)		probably benign	Het
Patl2	G	T	2: 122,128,848 (GRCm38)	S45*	probably null	Het
Pde2a	G	A	7: 101,502,933 (GRCm38)	G349E	probably benign	Het
Pdlim2	T	A	14: 70,168,015 (GRCm38)		probably benign	Het
Per1	T	C	11: 69,104,401 (GRCm38)	V653A	probably benign	Het
Phlda2	A	G	7: 143,502,268 (GRCm38)	S75P	probably damaging	Het
Poldip3	A	T	15: 83,137,505 (GRCm38)	M167K	possibly damaging	Het
Prpf38a	T	C	4: 108,579,081 (GRCm38)	I12V	probably benign	Het
Prrc1	G	A	18: 57,374,550 (GRCm38)	V259I	possibly damaging	Het
Ptges3l	A	T	11: 101,424,622 (GRCm38)	M1K	probably null	Het
Rdh5	A	G	10: 128,913,784 (GRCm38)	Y296H	probably damaging	Het
Resf1	G	T	6: 149,328,398 (GRCm38)	G981*	probably null	Het
Rnf2	T	A	1: 151,473,217 (GRCm38)	K51*	probably null	Het
Rpusd3	C	A	6: 113,416,848 (GRCm38)	R215L	probably benign	Het
Rsph4a	A	T	10: 33,909,240 (GRCm38)	E382D	probably damaging	Het
S1pr2	G	A	9: 20,968,449 (GRCm38)	Q28*	probably null	Het
Sesn1	A	T	10: 41,895,009 (GRCm38)	I179F	probably damaging	Het
Setd3	T	A	12: 108,113,371 (GRCm38)	E291V	probably benign	Het
Shc1	G	T	3: 89,426,996 (GRCm38)	R323L	probably damaging	Het
Slc22a5	T	C	11: 53,891,526 (GRCm38)	D5G	possibly damaging	Het
Slc6a19	T	C	13: 73,700,558 (GRCm38)	K26E	probably benign	Het
Slc9a3	A	G	13: 74,164,293 (GRCm38)	N670D	possibly damaging	Het
Spata19	A	T	9: 27,400,465 (GRCm38)	I127L	probably benign	Het
Sptbn2	A	G	19: 4,729,309 (GRCm38)	D298G	probably benign	Het
Srm	T	C	4: 148,594,183 (GRCm38)	V289A	possibly damaging	Het
Stip1	C	T	19: 7,035,570 (GRCm38)	A49T	probably benign	Het
Tas2r118	C	A	6: 23,969,628 (GRCm38)	V145F	probably benign	Het
Tbc1d12	A	T	19: 38,865,725 (GRCm38)	K284*	probably null	Het
Tfcp2	T	C	15: 100,525,650 (GRCm38)	H125R	probably damaging	Het
Tfdp1	T	C	8: 13,373,073 (GRCm38)	V206A	probably damaging	Het
Tgtp2	A	G	11: 49,059,410 (GRCm38)	W112R	probably damaging	Het
Tmem71	T	G	15: 66,538,861 (GRCm38)	M221L	probably benign	Het
Tpcn1	T	C	5: 120,547,487 (GRCm38)	N436S	possibly damaging	Het
Usp4	C	T	9: 108,362,620 (GRCm38)	L183F	probably damaging	Het
Vmn2r55	A	T	7: 12,670,551 (GRCm38)	N308K	possibly damaging	Het
Zfp106	T	A	2: 120,533,919 (GRCm38)	D669V	probably damaging	Het
Zfp108	A	T	7: 24,260,148 (GRCm38)	I55L	probably benign	Het
Zfp512b	A	T	2: 181,586,338 (GRCm38)	S8R	probably damaging	Het
Zfp827	T	C	8: 79,061,281 (GRCm38)	S359P	probably benign	Het

Other mutations in Speg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Speg	APN	1	75,410,390 (GRCm38)	missense	possibly damaging	0.95
IGL00979:Speg	APN	1	75,410,734 (GRCm38)	missense	probably damaging	0.98
IGL01122:Speg	APN	1	75,410,035 (GRCm38)	missense	probably damaging	1.00
IGL01293:Speg	APN	1	75,388,102 (GRCm38)	missense	probably damaging	1.00
IGL01304:Speg	APN	1	75,428,197 (GRCm38)	missense	probably benign	0.00
IGL01351:Speg	APN	1	75,411,276 (GRCm38)	splice site	probably benign
IGL01473:Speg	APN	1	75,428,285 (GRCm38)	missense	possibly damaging	0.53
IGL01477:Speg	APN	1	75,391,897 (GRCm38)	missense	probably damaging	1.00
IGL01485:Speg	APN	1	75,387,827 (GRCm38)	missense	probably damaging	1.00
IGL01584:Speg	APN	1	75,430,937 (GRCm38)	missense	probably damaging	1.00
IGL01959:Speg	APN	1	75,391,090 (GRCm38)	missense	probably damaging	1.00
IGL02231:Speg	APN	1	75,423,387 (GRCm38)	missense	probably damaging	1.00
IGL02355:Speg	APN	1	75,423,915 (GRCm38)	missense	possibly damaging	0.49
IGL02362:Speg	APN	1	75,423,915 (GRCm38)	missense	possibly damaging	0.49
IGL03013:Speg	APN	1	75,431,279 (GRCm38)	missense	probably damaging	0.97
IGL03168:Speg	APN	1	75,388,187 (GRCm38)	missense	probably damaging	1.00
H8562:Speg	UTSW	1	75,415,597 (GRCm38)	missense	probably benign	0.39
R0112:Speg	UTSW	1	75,385,032 (GRCm38)	missense	possibly damaging	0.92
R0311:Speg	UTSW	1	75,430,937 (GRCm38)	missense	probably damaging	1.00
R0315:Speg	UTSW	1	75,415,136 (GRCm38)	missense	possibly damaging	0.88
R0393:Speg	UTSW	1	75,423,924 (GRCm38)	missense	possibly damaging	0.46
R0403:Speg	UTSW	1	75,430,784 (GRCm38)	splice site	probably benign
R0483:Speg	UTSW	1	75,385,032 (GRCm38)	missense	possibly damaging	0.92
R0648:Speg	UTSW	1	75,427,978 (GRCm38)	missense	probably benign
R0683:Speg	UTSW	1	75,429,118 (GRCm38)	missense	probably damaging	1.00
R0800:Speg	UTSW	1	75,423,489 (GRCm38)	missense	probably damaging	1.00
R0815:Speg	UTSW	1	75,415,392 (GRCm38)	missense	probably damaging	1.00
R0835:Speg	UTSW	1	75,375,674 (GRCm38)	missense	probably benign	0.00
R0866:Speg	UTSW	1	75,417,083 (GRCm38)	missense	probably damaging	0.99
R0880:Speg	UTSW	1	75,405,061 (GRCm38)	missense	probably damaging	1.00
R1082:Speg	UTSW	1	75,415,138 (GRCm38)	missense	possibly damaging	0.94
R1140:Speg	UTSW	1	75,429,095 (GRCm38)	missense	probably damaging	1.00
R1252:Speg	UTSW	1	75,427,095 (GRCm38)	missense	probably damaging	1.00
R1301:Speg	UTSW	1	75,401,501 (GRCm38)	missense	probably damaging	1.00
R1348:Speg	UTSW	1	75,422,872 (GRCm38)	missense	probably damaging	0.99
R1388:Speg	UTSW	1	75,430,460 (GRCm38)	missense	probably damaging	0.99
R1465:Speg	UTSW	1	75,428,484 (GRCm38)	splice site	probably benign
R1505:Speg	UTSW	1	75,375,542 (GRCm38)	missense	probably benign	0.02
R1506:Speg	UTSW	1	75,417,663 (GRCm38)	missense	probably benign	0.03
R1531:Speg	UTSW	1	75,401,222 (GRCm38)	missense	possibly damaging	0.86
R1543:Speg	UTSW	1	75,421,951 (GRCm38)	missense	probably damaging	1.00
R1567:Speg	UTSW	1	75,428,047 (GRCm38)	missense	probably benign
R1630:Speg	UTSW	1	75,422,977 (GRCm38)	missense	probably damaging	1.00
R1667:Speg	UTSW	1	75,410,549 (GRCm38)	splice site	probably benign
R1673:Speg	UTSW	1	75,411,163 (GRCm38)	missense	possibly damaging	0.60
R1718:Speg	UTSW	1	75,421,744 (GRCm38)	missense	possibly damaging	0.87
R1718:Speg	UTSW	1	75,417,863 (GRCm38)	missense	probably benign	0.00
R1719:Speg	UTSW	1	75,417,863 (GRCm38)	missense	probably benign	0.00
R1759:Speg	UTSW	1	75,401,162 (GRCm38)	missense	possibly damaging	0.95
R1861:Speg	UTSW	1	75,389,005 (GRCm38)	missense	probably damaging	1.00
R1874:Speg	UTSW	1	75,423,906 (GRCm38)	missense	probably benign
R1936:Speg	UTSW	1	75,431,408 (GRCm38)	missense	possibly damaging	0.93
R2192:Speg	UTSW	1	75,417,727 (GRCm38)	missense	probably damaging	1.00
R2204:Speg	UTSW	1	75,430,477 (GRCm38)	missense	probably benign	0.30
R2287:Speg	UTSW	1	75,430,465 (GRCm38)	missense	possibly damaging	0.76
R2696:Speg	UTSW	1	75,406,926 (GRCm38)	missense	probably benign	0.27
R2983:Speg	UTSW	1	75,384,930 (GRCm38)	missense	possibly damaging	0.83
R3110:Speg	UTSW	1	75,422,682 (GRCm38)	nonsense	probably null
R3112:Speg	UTSW	1	75,422,682 (GRCm38)	nonsense	probably null
R3154:Speg	UTSW	1	75,401,542 (GRCm38)	missense	probably damaging	1.00
R3720:Speg	UTSW	1	75,426,782 (GRCm38)	missense	probably damaging	1.00
R3983:Speg	UTSW	1	75,422,547 (GRCm38)	missense	probably benign	0.27
R4133:Speg	UTSW	1	75,427,904 (GRCm38)	missense	probably benign
R4522:Speg	UTSW	1	75,428,330 (GRCm38)	missense	probably damaging	1.00
R4564:Speg	UTSW	1	75,391,834 (GRCm38)	missense	probably damaging	1.00
R4577:Speg	UTSW	1	75,415,395 (GRCm38)	missense	probably damaging	1.00
R4858:Speg	UTSW	1	75,421,735 (GRCm38)	missense	probably damaging	1.00
R4953:Speg	UTSW	1	75,423,864 (GRCm38)	missense	possibly damaging	0.72
R4967:Speg	UTSW	1	75,387,869 (GRCm38)	missense	probably damaging	1.00
R5152:Speg	UTSW	1	75,428,098 (GRCm38)	missense	possibly damaging	0.92
R5156:Speg	UTSW	1	75,428,087 (GRCm38)	missense	probably damaging	0.99
R5371:Speg	UTSW	1	75,431,393 (GRCm38)	missense	possibly damaging	0.50
R5550:Speg	UTSW	1	75,429,100 (GRCm38)	missense	probably damaging	1.00
R5562:Speg	UTSW	1	75,427,056 (GRCm38)	missense	probably damaging	1.00
R5687:Speg	UTSW	1	75,419,129 (GRCm38)	splice site	probably null
R5985:Speg	UTSW	1	75,406,684 (GRCm38)	missense	possibly damaging	0.94
R6004:Speg	UTSW	1	75,415,603 (GRCm38)	nonsense	probably null
R6038:Speg	UTSW	1	75,418,459 (GRCm38)	critical splice donor site	probably null
R6038:Speg	UTSW	1	75,418,459 (GRCm38)	critical splice donor site	probably null
R6143:Speg	UTSW	1	75,414,387 (GRCm38)	missense	probably damaging	1.00
R6265:Speg	UTSW	1	75,406,679 (GRCm38)	nonsense	probably null
R6347:Speg	UTSW	1	75,426,875 (GRCm38)	missense	probably benign	0.00
R6453:Speg	UTSW	1	75,417,972 (GRCm38)	missense	probably benign	0.06
R6505:Speg	UTSW	1	75,429,523 (GRCm38)	missense	possibly damaging	0.93
R6505:Speg	UTSW	1	75,406,684 (GRCm38)	missense	possibly damaging	0.94
R6531:Speg	UTSW	1	75,422,757 (GRCm38)	missense	probably benign	0.03
R6566:Speg	UTSW	1	75,388,463 (GRCm38)	missense	probably damaging	1.00
R6747:Speg	UTSW	1	75,410,395 (GRCm38)	critical splice donor site	probably null
R6819:Speg	UTSW	1	75,391,812 (GRCm38)	missense	possibly damaging	0.56
R6821:Speg	UTSW	1	75,417,903 (GRCm38)	missense	possibly damaging	0.83
R6919:Speg	UTSW	1	75,387,908 (GRCm38)	nonsense	probably null
R6981:Speg	UTSW	1	75,430,913 (GRCm38)	missense	probably damaging	1.00
R7002:Speg	UTSW	1	75,423,268 (GRCm38)	missense	probably damaging	0.98
R7082:Speg	UTSW	1	75,411,447 (GRCm38)	missense	probably damaging	0.96
R7140:Speg	UTSW	1	75,406,770 (GRCm38)	critical splice donor site	probably null
R7175:Speg	UTSW	1	75,422,490 (GRCm38)	missense	probably benign	0.01
R7178:Speg	UTSW	1	75,422,383 (GRCm38)	missense	possibly damaging	0.46
R7345:Speg	UTSW	1	75,384,835 (GRCm38)	missense	probably damaging	0.97
R7420:Speg	UTSW	1	75,430,905 (GRCm38)	missense	probably damaging	1.00
R7537:Speg	UTSW	1	75,401,464 (GRCm38)	missense	probably damaging	1.00
R7562:Speg	UTSW	1	75,431,279 (GRCm38)	missense	probably damaging	0.97
R7615:Speg	UTSW	1	75,429,242 (GRCm38)	missense	probably damaging	1.00
R7679:Speg	UTSW	1	75,406,315 (GRCm38)	missense	probably damaging	1.00
R7692:Speg	UTSW	1	75,401,190 (GRCm38)	missense	probably benign	0.04
R7696:Speg	UTSW	1	75,429,161 (GRCm38)	missense	probably damaging	1.00
R7719:Speg	UTSW	1	75,375,825 (GRCm38)	missense	probably damaging	1.00
R7794:Speg	UTSW	1	75,388,870 (GRCm38)	missense	probably benign	0.00
R7824:Speg	UTSW	1	75,384,017 (GRCm38)	splice site	probably null
R7834:Speg	UTSW	1	75,384,927 (GRCm38)	missense	probably damaging	1.00
R7892:Speg	UTSW	1	75,427,166 (GRCm38)	missense	probably damaging	1.00
R8015:Speg	UTSW	1	75,415,421 (GRCm38)	splice site	probably benign
R8068:Speg	UTSW	1	75,422,250 (GRCm38)	missense	probably damaging	1.00
R8085:Speg	UTSW	1	75,415,353 (GRCm38)	missense	probably damaging	1.00
R8130:Speg	UTSW	1	75,415,596 (GRCm38)	missense	probably damaging	1.00
R8132:Speg	UTSW	1	75,422,995 (GRCm38)	missense	probably damaging	1.00
R8239:Speg	UTSW	1	75,419,033 (GRCm38)	missense	probably damaging	1.00
R8287:Speg	UTSW	1	75,422,236 (GRCm38)	missense	probably benign	0.26
R8299:Speg	UTSW	1	75,387,836 (GRCm38)	missense	possibly damaging	0.95
R8441:Speg	UTSW	1	75,411,332 (GRCm38)	missense	possibly damaging	0.60
R8468:Speg	UTSW	1	75,431,309 (GRCm38)	missense	probably damaging	1.00
R8555:Speg	UTSW	1	75,402,264 (GRCm38)	splice site	probably null
R8781:Speg	UTSW	1	75,407,021 (GRCm38)	missense	probably damaging	1.00
R8784:Speg	UTSW	1	75,405,149 (GRCm38)	critical splice donor site	probably benign
R8848:Speg	UTSW	1	75,427,438 (GRCm38)	critical splice donor site	probably null
R8881:Speg	UTSW	1	75,401,151 (GRCm38)	missense	possibly damaging	0.67
R8898:Speg	UTSW	1	75,388,873 (GRCm38)	missense	probably damaging	1.00
R8935:Speg	UTSW	1	75,422,606 (GRCm38)	missense	probably benign	0.30
R9019:Speg	UTSW	1	75,429,238 (GRCm38)	missense	probably damaging	1.00
R9027:Speg	UTSW	1	75,388,432 (GRCm38)	missense	possibly damaging	0.67
R9066:Speg	UTSW	1	75,385,010 (GRCm38)	missense	probably damaging	0.99
R9092:Speg	UTSW	1	75,422,734 (GRCm38)	missense	probably benign	0.01
R9117:Speg	UTSW	1	75,387,800 (GRCm38)	missense	probably damaging	1.00
R9202:Speg	UTSW	1	75,390,993 (GRCm38)	missense	probably damaging	1.00
R9246:Speg	UTSW	1	75,384,854 (GRCm38)	missense	probably damaging	1.00
R9248:Speg	UTSW	1	75,421,776 (GRCm38)	missense	probably damaging	1.00
R9451:Speg	UTSW	1	75,417,733 (GRCm38)	missense	probably damaging	1.00
R9452:Speg	UTSW	1	75,422,508 (GRCm38)	missense	probably benign
R9475:Speg	UTSW	1	75,388,091 (GRCm38)	missense	probably damaging	1.00
R9476:Speg	UTSW	1	75,401,124 (GRCm38)	missense	probably damaging	0.99
R9510:Speg	UTSW	1	75,401,124 (GRCm38)	missense	probably damaging	0.99
R9519:Speg	UTSW	1	75,415,736 (GRCm38)	missense	probably damaging	1.00
R9528:Speg	UTSW	1	75,387,803 (GRCm38)	missense	possibly damaging	0.78
R9542:Speg	UTSW	1	75,422,782 (GRCm38)	missense	probably benign	0.08
R9553:Speg	UTSW	1	75,418,001 (GRCm38)	missense	probably benign	0.00
R9767:Speg	UTSW	1	75,427,181 (GRCm38)	missense	possibly damaging	0.78
R9768:Speg	UTSW	1	75,418,973 (GRCm38)	nonsense	probably null
R9800:Speg	UTSW	1	75,422,714 (GRCm38)	missense	probably benign	0.03
X0025:Speg	UTSW	1	75,422,457 (GRCm38)	missense	probably damaging	1.00
X0026:Speg	UTSW	1	75,423,475 (GRCm38)	missense	possibly damaging	0.88
Z1176:Speg	UTSW	1	75,406,594 (GRCm38)	missense	probably damaging	1.00
Z1177:Speg	UTSW	1	75,427,683 (GRCm38)	missense	probably damaging	1.00
Z1177:Speg	UTSW	1	75,430,455 (GRCm38)	missense	probably damaging	0.99
Z1177:Speg	UTSW	1	75,428,381 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTCCTCACCAGATAGAGGCATC -3'
(R):5'- CTGGCTGAGCAGGAGAATCTAG -3'

Sequencing Primer
(F):5'- CCAGATAGAGGCATCTTCTCTGG -3'
(R):5'- TAGGAAAAGACAAGGAAAATCATCAC -3'

Posted On

2016-04-27