Mutagenetix > Incidental Mutation

Incidental Mutation 'R8028:Sry'

628883

Institutional Source

Beutler Lab

Gene Symbol

Sry

Ensembl Gene

ENSMUSG00000069036

Gene Name

sex determining region of Chr Y

Synonyms

Tdy, Tdf

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8028 (G1)

Quality Score

197.459

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: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.4%

Validation Efficiency

97% (35/36)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	G	T	5: 31,487,922	V340F	possibly damaging	Het
Abca3	G	A	17: 24,407,697	R1500Q	probably benign	Het
Arhgap21	C	T	2: 20,880,405	V664M	probably benign	Het
Arhgef11	T	C	3: 87,735,552	V1464A	probably benign	Het
Ccdc158	G	T	5: 92,634,251	H836Q	probably damaging	Het
Clcn2	T	A	16: 20,708,762	Y584F	possibly damaging	Het
Csn1s2b	G	T	5: 87,819,092	M84I	probably benign	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gimap4	A	T	6: 48,690,750	R146S	probably damaging	Het
Gm20671	T	C	5: 32,795,614	N184S	possibly damaging	Het
Gpr179	T	C	11: 97,337,801	E1176G	probably damaging	Het
Hif1a	T	C	12: 73,942,027	S589P	probably benign	Het
Kcna7	T	A	7: 45,409,523	C411*	probably null	Het
Kel	C	T	6: 41,699,024	S244N	probably benign	Het
Lama2	A	T	10: 27,328,149	S498T	probably benign	Het
Map4	C	T	9: 110,068,744	T846I	probably damaging	Het
Myh8	T	C	11: 67,303,676	V1571A	possibly damaging	Het
Osbpl5	T	C	7: 143,715,735	T47A	probably benign	Het
Parl	T	C	16: 20,280,051	K353E	probably benign	Het
Pcdhb17	G	A	18: 37,487,449	S764N	probably benign	Het
Poglut1	A	G	16: 38,534,733	S244P	probably damaging	Het
Polq	C	T	16: 37,061,316	H1281Y	possibly damaging	Het
Rsf1	CG	CGACCGCGGGG	7: 97,579,908		probably benign	Het
Sardh	C	T	2: 27,230,455	M438I	probably damaging	Het
Slc14a1	T	C	18: 78,116,512	I55M	probably benign	Het
Slc22a12	T	A	19: 6,538,439	T350S	probably benign	Het
Srrt	CACCTTCTCCCCAGAACCCCACACCTTACCTG	C	5: 137,302,498		probably benign	Het
Stk38l	T	C	6: 146,773,383	F382S	probably damaging	Het
Swt1	G	T	1: 151,384,497	T717K	probably benign	Het
Tmem230	A	G	2: 132,244,065	L59P	probably benign	Het
Vmn2r98	A	T	17: 19,053,650	Y53F	probably benign	Het
Zscan12	C	T	13: 21,368,852	S282L	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
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
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'- GTGTCATGAGACTGCCAACCAC -3'
(R):5'- CCTGTTGATATCCCCACTGG -3'

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

Posted On

2020-06-30