Mutagenetix > Incidental Mutation

Incidental Mutation 'R5305:Sry'

404535

Institutional Source

Beutler Lab

Gene Symbol

Sry

Ensembl Gene

ENSMUSG00000069036

Gene Name

sex determining region of Chr Y

Synonyms

Tdy, Tdf

MMRRC Submission

042888-MU

Accession Numbers

Essential gene?

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

Stock #

R5305 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

2662471-2663658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 2662982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 226 (D226V)

Ref Sequence

ENSEMBL: ENSMUSP00000088717 (fasta)

Gene Model

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

AlphaFold

Q05738

Predicted Effect

unknown
Transcript: ENSMUST00000091178
AA Change: D226V

SMART Domains

Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: D226V

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (67/68)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 82,059,219	V11M	possibly damaging	Het
Acot8	A	G	2: 164,795,765	V179A	probably benign	Het
Actb	A	G	5: 142,904,230	I194T	probably benign	Het
Ap1g2	A	G	14: 55,099,076	V787A	probably benign	Het
Areg	G	T	5: 91,144,449	A203S	probably damaging	Het
Asb13	A	T	13: 3,643,479	D79V	probably damaging	Het
Atad2b	C	T	12: 4,965,855	T527I	probably damaging	Het
Auts2	T	G	5: 131,443,794		probably benign	Het
Ceacam3	T	A	7: 17,151,576	S35T	probably damaging	Het
Crebzf	T	C	7: 90,444,134		probably benign	Het
Cttnbp2	G	T	6: 18,381,098	N1366K	probably benign	Het
Cubn	C	A	2: 13,388,939	C1417F	probably damaging	Het
Dot1l	C	T	10: 80,790,793	P162S	probably benign	Het
Epc1	G	A	18: 6,490,690		probably benign	Het
Eps8l1	A	G	7: 4,477,896	S613G	possibly damaging	Het
Erich6	T	G	3: 58,625,116	I357L	probably benign	Het
Foxj3	T	A	4: 119,619,958	S288T	possibly damaging	Het
Gls2	T	G	10: 128,204,709	Y326*	probably null	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm7535	T	C	17: 17,911,799		probably benign	Het
Gxylt2	T	G	6: 100,787,218	L288R	probably damaging	Het
Kdm4a	T	C	4: 118,160,501	Y456C	probably damaging	Het
Mgat4c	T	A	10: 102,389,279	F451L	possibly damaging	Het
Mrpl20	G	A	4: 155,803,705	R17H	probably damaging	Het
Mtf2	A	G	5: 108,104,499	T465A	possibly damaging	Het
Mycbp2	A	C	14: 103,346,321	L66R	probably benign	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Nr2e1	A	T	10: 42,571,487	Y176*	probably null	Het
Obscn	T	C	11: 59,012,715	T7628A	possibly damaging	Het
Olfr1353	A	T	10: 78,970,556	K302N	possibly damaging	Het
Pitx2	T	G	3: 129,215,840	V129G	probably damaging	Het
Polr2e	A	G	10: 80,038,063		probably benign	Het
Ppard	A	G	17: 28,298,858	D300G	probably damaging	Het
Ppp1r27	A	G	11: 120,550,917	V46A	probably benign	Het
Prex2	T	A	1: 11,107,678	V332E	probably damaging	Het
Prss30	T	G	17: 23,972,776	Y257S	probably benign	Het
Ptprd	T	C	4: 75,982,626	E1082G	probably damaging	Het
Rab3c	T	A	13: 110,181,077	R89S	probably damaging	Het
Rimbp2	A	G	5: 128,797,381	V389A	possibly damaging	Het
Rims1	T	A	1: 22,596,542	R119S	probably damaging	Het
Sema3b	T	C	9: 107,603,337	H137R	probably null	Het
Sf3b4	G	C	3: 96,173,642	A89P	probably damaging	Het
Sgta	T	A	10: 81,046,247	Q298L	probably damaging	Het
Spag9	C	A	11: 94,069,012	D342E	probably damaging	Het
Sv2a	A	G	3: 96,185,458	E158G	possibly damaging	Het
Sytl2	A	G	7: 90,381,863		probably benign	Het
Thbs3	T	A	3: 89,217,976		probably benign	Het
Top3a	A	T	11: 60,762,539	N56K	possibly damaging	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Tyk2	T	C	9: 21,109,381	D918G	probably damaging	Het
Uqcrh	A	G	4: 116,067,284		probably benign	Het
Vmn1r61	A	G	7: 5,610,815	S167P	probably damaging	Het
Wdr25	C	A	12: 109,026,440	H74N	probably damaging	Het
Zfp458	T	C	13: 67,256,318	N686D	probably benign	Het
Zfp574	T	A	7: 25,081,090	H512Q		Het
Zfp976	A	T	7: 42,613,478	Y312N	probably benign	Het
Zscan4c	G	A	7: 11,009,535	V354I	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
R0784:Sry	UTSW	Y	2662731	missense	unknown
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
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'- AGTAGGTAAGCTGCTGGTCG -3'
(R):5'- AGCCTGTTGATATCCCCACTG -3'

Sequencing Primer
(F):5'- AAGCTGCTGGTCGTGGAAC -3'
(R):5'- GCAGCAACAGCAGTTCTATG -3'

Posted On

2016-07-22