Mutagenetix > Incidental Mutation

Incidental Mutation 'R0784:Sry'

76801

Institutional Source

Beutler Lab

Gene Symbol

Sry

Ensembl Gene

ENSMUSG00000069036

Gene Name

sex determining region of Chr Y

Synonyms

Tdy, Tdf

MMRRC Submission

038964-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

R0784 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

2662471-2663658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 2662731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 310 (Q310K)

Ref Sequence

ENSEMBL: ENSMUSP00000088717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091178]

AlphaFold

Q05738

Predicted Effect

unknown
Transcript: ENSMUST00000091178
AA Change: Q310K

SMART Domains

Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: Q310K

Domain	Start	End	E-Value	Type
HMG	4	74	2.76e-24	SMART
low complexity region	144	366	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.1%

Validation Efficiency

97% (59/61)

MGI Phenotype

PHENOTYPE: Variations in expression of alleles on specific backgrounds result in partial and/or complete male to female sex reversal. Deletion of alleles results in XY females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	T	C	14: 54,653,528		probably benign	Het
Adamts2	C	T	11: 50,668,003	R182W	probably damaging	Het
Ahr	C	T	12: 35,508,142	G293D	possibly damaging	Het
Akna	G	T	4: 63,376,888	T1028K	probably benign	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Asic2	T	A	11: 80,893,989	M324L	possibly damaging	Het
Atf6	A	G	1: 170,709,947	F635L	probably benign	Het
Atp8b2	A	T	3: 89,957,073	V195E	probably damaging	Het
Bicd1	T	A	6: 149,513,363	C525S	probably damaging	Het
Cbfa2t3	A	G	8: 122,650,487		probably benign	Het
Cd46	G	A	1: 195,092,194	T11M	possibly damaging	Het
Cecr2	A	G	6: 120,758,149	H754R	possibly damaging	Het
Clcn3	G	T	8: 60,929,203	D450E	probably benign	Het
Cobl	T	G	11: 12,266,843		probably benign	Het
Cyba	T	A	8: 122,427,683	T34S	probably benign	Het
Dennd1a	A	G	2: 38,021,414	L187P	probably damaging	Het
Dennd4c	A	T	4: 86,844,908	Q1817L	probably benign	Het
Drosha	T	C	15: 12,867,678		probably benign	Het
Dync1li2	A	G	8: 104,442,498	S34P	probably damaging	Het
Emilin2	T	A	17: 71,275,287	D148V	possibly damaging	Het
Galnt11	A	G	5: 25,258,909	D393G	probably damaging	Het
Gm5435	T	A	12: 82,496,180		noncoding transcript	Het
Gpr176	C	T	2: 118,373,052	V46M	possibly damaging	Het
Gpr85	T	A	6: 13,836,749	H52L	probably benign	Het
Grn	T	C	11: 102,434,502	M246T	possibly damaging	Het
Hnrnpul2	T	C	19: 8,825,052	F428L	possibly damaging	Het
Hoxa13	G	C	6: 52,259,937	N278K	probably damaging	Het
Irx5	A	G	8: 92,360,490	D350G	probably benign	Het
Kat2a	C	T	11: 100,710,841	M249I	probably benign	Het
Klhl29	T	C	12: 5,081,251	Y782C	probably damaging	Het
Kmt2c	A	T	5: 25,310,895	F2650Y	probably benign	Het
Lrp2	A	G	2: 69,518,365	I754T	probably benign	Het
Mpl	G	A	4: 118,446,406	P472S	possibly damaging	Het
Mtnr1b	A	G	9: 15,862,785	I326T	probably benign	Het
Myh9	A	G	15: 77,777,009		probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo9a	A	G	9: 59,896,545		probably benign	Het
Olfr1187-ps1	T	A	2: 88,540,167		noncoding transcript	Het
Olfr30	T	A	11: 58,455,305	I215F	possibly damaging	Het
Oraov1	A	T	7: 144,919,277	Y108F	probably benign	Het
Pcsk5	T	C	19: 17,714,769	M184V	probably benign	Het
Piezo2	T	A	18: 63,083,235	D1143V	probably damaging	Het
Prr36	G	T	8: 4,213,771		probably benign	Het
Rnf220	C	A	4: 117,277,998		probably benign	Het
Senp3	A	G	11: 69,680,448	L131P	probably damaging	Het
Shc4	A	C	2: 125,657,496	W354G	probably benign	Het
Slc6a15	A	G	10: 103,416,800		probably benign	Het
Smtnl2	T	C	11: 72,399,937	D394G	probably damaging	Het
St7l	A	G	3: 104,870,924	M126V	probably benign	Het
St8sia3	T	C	18: 64,271,701	W350R	probably damaging	Het
Stk35	A	T	2: 129,810,802	K408*	probably null	Het
Svs1	T	A	6: 48,987,301	M81K	possibly damaging	Het
Thsd7b	T	C	1: 129,595,359		probably benign	Het
Tmem106b	T	C	6: 13,084,253	V252A	probably damaging	Het
Trpm7	A	G	2: 126,846,072		probably null	Het
Ttf2	T	C	3: 100,962,710	D349G	probably benign	Het
Zfp386	T	A	12: 116,059,920	C419*	probably null	Het
Zfp541	A	G	7: 16,082,992		probably benign	Het

Other mutations in Sry

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:Sry	UTSW	Y	2662837	small insertion	probably benign
FR4340:Sry	UTSW	Y	2662824	small insertion	probably benign
FR4342:Sry	UTSW	Y	2662835	small insertion	probably benign
FR4342:Sry	UTSW	Y	2662836	small insertion	probably benign
FR4342:Sry	UTSW	Y	2662839	small insertion	probably benign
FR4342:Sry	UTSW	Y	2663146	small deletion	probably benign
FR4449:Sry	UTSW	Y	2662818	small insertion	probably benign
FR4449:Sry	UTSW	Y	2662832	small insertion	probably benign
FR4589:Sry	UTSW	Y	2662818	small insertion	probably benign
FR4737:Sry	UTSW	Y	2662837	small insertion	probably benign
FR4737:Sry	UTSW	Y	2662838	small insertion	probably benign
FR4737:Sry	UTSW	Y	2663195	small deletion	probably benign
FR4976:Sry	UTSW	Y	2662841	small insertion	probably benign
R0288:Sry	UTSW	Y	2662818	missense	unknown
R0506:Sry	UTSW	Y	2662864	missense	unknown
R0690:Sry	UTSW	Y	2662944	small deletion	probably benign
R1373:Sry	UTSW	Y	2662864	missense	unknown
R1555:Sry	UTSW	Y	2662975	missense	unknown
R1638:Sry	UTSW	Y	2663149	missense	unknown
R2110:Sry	UTSW	Y	2662901	missense	unknown
R2212:Sry	UTSW	Y	2663339	missense	probably damaging	0.99
R3150:Sry	UTSW	Y	2662944	small deletion	probably benign
R3552:Sry	UTSW	Y	2663141	missense	unknown
R4877:Sry	UTSW	Y	2662864	missense	unknown
R4888:Sry	UTSW	Y	2663105	missense	unknown
R5028:Sry	UTSW	Y	2663312	missense	probably damaging	0.97
R5266:Sry	UTSW	Y	2662975	missense	unknown
R5305:Sry	UTSW	Y	2662982	missense	unknown
R5335:Sry	UTSW	Y	2663647	missense	probably benign	0.08
R5587:Sry	UTSW	Y	2662625	missense	unknown
R5915:Sry	UTSW	Y	2662612	missense	unknown
R6183:Sry	UTSW	Y	2662975	missense	unknown
R6184:Sry	UTSW	Y	2662975	missense	unknown
R6187:Sry	UTSW	Y	2662975	missense	unknown
R6976:Sry	UTSW	Y	2662938	missense	unknown
R7358:Sry	UTSW	Y	2662638	small deletion	probably benign
R7632:Sry	UTSW	Y	2662638	small deletion	probably benign
R7678:Sry	UTSW	Y	2663248	missense	possibly damaging	0.83
R7737:Sry	UTSW	Y	2662638	small deletion	probably benign
R7812:Sry	UTSW	Y	2662638	small deletion	probably benign
R7829:Sry	UTSW	Y	2662638	small deletion	probably benign
R8005:Sry	UTSW	Y	2663303	missense	possibly damaging	0.88
R8028:Sry	UTSW	Y	2662638	small deletion	probably benign
R8082:Sry	UTSW	Y	2662589	missense	unknown
R8212:Sry	UTSW	Y	2662638	small deletion	probably benign
R8223:Sry	UTSW	Y	2663204	missense	unknown
R8252:Sry	UTSW	Y	2663298	missense	possibly damaging	0.91
R8390:Sry	UTSW	Y	2662638	small deletion	probably benign
R9027:Sry	UTSW	Y	2662638	small deletion	probably benign
R9429:Sry	UTSW	Y	2662638	small deletion	probably benign
RF002:Sry	UTSW	Y	2662564	small deletion	probably benign
RF006:Sry	UTSW	Y	2662638	small deletion	probably benign
RF008:Sry	UTSW	Y	2662826	small insertion	probably benign
RF040:Sry	UTSW	Y	2662590	small insertion	probably benign
RF063:Sry	UTSW	Y	2662595	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCATGAGACTGCCAACCACAGG -3'
(R):5'- AGCAGCAACAGCAGTTCTATGACC -3'

Sequencing Primer
(F):5'- AAGTAGGTAAGCTGCTGGTC -3'
(R):5'- accaccaccaccaccac -3'

Posted On

2013-10-16