Mutagenetix > Incidental Mutations

Incidental Mutation 'R9027:Sry'

686842

Institutional Source

Beutler Lab

Gene Symbol

Sry

Ensembl Gene

ENSMUSG00000069036

Gene Name

sex determining region of Chr Y

Synonyms

Tdy, Tdf

Accession Numbers

Is this an essential gene?

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

Stock #

R9027 (G1)

Quality Score

166.457

Status

Not validated

Chromosome

Chromosomal Location

2662471-2663658 bp(-) (GRCm38)

Type of Mutation

small deletion (10 aa in frame mutation)

DNA Base Change (assembly)

GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG to GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG at 2662638 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000088717 (fasta)

Gene Model

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

AlphaFold

Q05738

Predicted Effect

probably benign
Transcript: ENSMUST00000091178

SMART Domains

Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	T	19: 11,105,691	Y122N	probably damaging	Het
Adam1b	C	A	5: 121,502,725	E86*	probably null	Het
Ahnak	T	G	19: 9,007,253	I1967S	possibly damaging	Het
Alox12e	A	G	11: 70,321,774	V83A	possibly damaging	Het
Arhgap20	A	T	9: 51,843,677	R439S	probably damaging	Het
Arl1	A	G	10: 88,733,596	I20V	probably damaging	Het
Atad2	T	C	15: 58,132,232	D93G	probably benign	Het
Btbd7	T	G	12: 102,838,579	K67N	probably damaging	Het
C130050O18Rik	A	G	5: 139,414,546	N118S	probably benign	Het
Cdk19	A	G	10: 40,479,732	S479G	unknown	Het
Chrd	A	G	16: 20,736,987	T503A	probably damaging	Het
Clca4b	G	A	3: 144,912,066	R759*	probably null	Het
Cpa5	G	T	6: 30,612,605	M1I	probably null	Het
Cr2	A	T	1: 195,151,721	I920N	probably benign	Het
Crmp1	C	A	5: 37,280,603	Y430*	probably null	Het
Dars	A	T	1: 128,368,426	V390D	possibly damaging	Het
Dmtn	A	G	14: 70,616,115	S85P	probably damaging	Het
Fancm	C	A	12: 65,075,831	D42E	probably damaging	Het
Gabrg3	T	A	7: 56,773,374	Y192F	possibly damaging	Het
Gm3435	A	G	17: 15,022,102	E416G	unknown	Het
Gm8765	C	T	13: 50,702,971	Q882*	probably null	Het
Gpr3	A	T	4: 133,210,898	Y154*	probably null	Het
Huwe1	G	A	X: 151,933,088	R4331Q	unknown	Het
Ints5	C	A	19: 8,895,958	P427Q	possibly damaging	Het
Jhy	A	T	9: 40,917,527	V361D	probably benign	Het
Klhl33	G	A	14: 50,892,865	Q131*	probably null	Het
Lama2	A	T	10: 27,204,885	C981S	probably damaging	Het
Mks1	C	A	11: 87,857,215	L225I	probably damaging	Het
Nfasc	T	A	1: 132,611,605	S402C	probably damaging	Het
Olfr1300-ps1	A	T	2: 111,692,172	Y218F	unknown	Het
Olfr47	T	C	6: 43,236,424	I272T	possibly damaging	Het
Olfr577	T	C	7: 102,973,353	D213G	probably damaging	Het
Pbx4	T	A	8: 69,864,349	D85E	possibly damaging	Het
Plcd1	T	C	9: 119,084,641	T50A	probably damaging	Het
Plk5	C	G	10: 80,357,996	R40G	probably damaging	Het
Psen2	C	A	1: 180,229,407	E351*	probably null	Het
Rragd	G	A	4: 32,996,083	V143I	probably damaging	Het
Rsph14	A	T	10: 74,959,591	M254K	probably damaging	Het
Selenoi	C	T	5: 30,232,609		probably benign	Het
Six6	T	C	12: 72,940,161	S36P		Het
Slc12a8	T	C	16: 33,624,845	S370P	probably benign	Het
Slc25a46	A	G	18: 31,583,379	Y357H	probably benign	Het
Socs2	A	T	10: 95,413,086	V55D	probably damaging	Het
Socs6	T	C	18: 88,870,728	E21G	probably benign	Het
Speg	A	T	1: 75,388,432	T486S	possibly damaging	Het
Spryd3	A	G	15: 102,119,408	Y235H	probably damaging	Het
Stxbp5l	T	C	16: 37,345,111	K82E	probably damaging	Het
Sugt1	A	G	14: 79,587,715		probably benign	Het
Synm	T	C	7: 67,734,692	Y1074C	probably damaging	Het
Sytl2	A	G	7: 90,379,540	T476A	probably benign	Het
Tbc1d1	T	C	5: 64,257,006	S237P	probably benign	Het
Tbc1d5	C	A	17: 50,756,664	M629I	probably damaging	Het
Tlr11	G	A	14: 50,361,292	G245D	probably damaging	Het
Tspan4	T	C	7: 141,489,664	V59A	probably benign	Het
Tulp4	T	A	17: 6,233,197	V1167E	possibly damaging	Het
Usp42	G	A	5: 143,723,151	T204M	probably damaging	Het
Vapb	A	G	2: 173,776,155	K147R	possibly damaging	Het
Vmn1r228	T	C	17: 20,777,160	D32G	probably benign	Het
Vmn2r33	A	G	7: 7,551,169	F795S	probably damaging	Het
Vmn2r34	A	T	7: 7,672,528	N620K	probably damaging	Het
Vwf	G	T	6: 125,666,663	C2389F		Het
Wdr81	T	C	11: 75,442,082	E652G		Het
Wdr81	A	T	11: 75,452,381	S687T	probably benign	Het
Zcrb1	A	G	15: 93,387,575		probably null	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
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
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'- TGTCATGAGACTGCCAACC -3'
(R):5'- GCCTGTTGATATCCCCACTG -3'

Sequencing Primer
(F):5'- TGAGACTGCCAACCACAGGG -3'
(R):5'- GCAGCAGCATCAGTTCCATG -3'

Posted On

2021-11-19