Mutagenetix > Incidental Mutation

Incidental Mutation 'R1373:Sry'

244140

Institutional Source

Beutler Lab

Gene Symbol

Sry

Ensembl Gene

ENSMUSG00000069036

Gene Name

sex determining region of Chr Y

Synonyms

Tdy, Tdf

MMRRC Submission

039437-MU

Accession Numbers

Essential gene?

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

Stock #

R1373 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

2662471-2663658 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 2662864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 265 (Q265H)

Ref Sequence

ENSEMBL: ENSMUSP00000088717 (fasta)

Gene Model

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

AlphaFold

Q05738

Predicted Effect

unknown
Transcript: ENSMUST00000091178
AA Change: Q265H

SMART Domains

Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: Q265H

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: 98.5%
10x: 97.0%
20x: 95.2%

Validation Efficiency

94% (34/36)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	G	A	14: 68,808,400 (GRCm39)	R317C	probably damaging	Het
Adgrl1	T	C	8: 84,664,392 (GRCm39)	V1261A	probably benign	Het
Btla	G	A	16: 45,044,783 (GRCm39)	G23D	probably benign	Het
Card19	T	C	13: 49,357,440 (GRCm39)	D110G	probably damaging	Het
Cbx7	C	T	15: 79,803,074 (GRCm39)	G160R	probably damaging	Het
Ccng2	C	T	5: 93,418,914 (GRCm39)		probably benign	Het
Col4a3	G	A	1: 82,667,808 (GRCm39)		probably benign	Het
Colgalt2	A	G	1: 152,348,912 (GRCm39)	T186A	probably damaging	Het
Cps1	A	G	1: 67,268,583 (GRCm39)	N1437S	possibly damaging	Het
Dcaf1	A	G	9: 106,735,079 (GRCm39)	I676V	probably benign	Het
Dnah5	T	A	15: 28,314,064 (GRCm39)		probably benign	Het
Dock1	T	C	7: 134,768,904 (GRCm39)	S1758P	probably benign	Het
Furin	C	T	7: 80,041,932 (GRCm39)		probably benign	Het
Ice2	G	A	9: 69,314,401 (GRCm39)	R50H	probably benign	Het
Ifi207	T	A	1: 173,557,913 (GRCm39)	D275V	unknown	Het
Nrxn2	C	T	19: 6,522,331 (GRCm39)	T190M	probably damaging	Het
Odad4	T	C	11: 100,436,658 (GRCm39)	F11S	probably damaging	Het
Or14j8	T	C	17: 38,263,251 (GRCm39)	I221M	probably damaging	Het
Or2ag17	C	T	7: 106,389,963 (GRCm39)	V82I	probably benign	Het
Pcnx3	A	G	19: 5,715,544 (GRCm39)	L1494P	probably damaging	Het
Pitrm1	G	T	13: 6,620,736 (GRCm39)	M739I	probably benign	Het
Rbm15	G	T	3: 107,239,946 (GRCm39)	R151S	possibly damaging	Het
Sfr1	C	G	19: 47,723,355 (GRCm39)	D286E	possibly damaging	Het
Slx4	A	G	16: 3,803,374 (GRCm39)	S1147P	probably benign	Het
Tgfbr3	T	C	5: 107,362,809 (GRCm39)	I68V	probably benign	Het
Tpmt	A	C	13: 47,180,734 (GRCm39)		probably null	Het
Trpm5	A	G	7: 142,640,579 (GRCm39)		probably benign	Het
Txlnb	A	G	10: 17,714,695 (GRCm39)	T376A	probably damaging	Het
Usp25	T	C	16: 76,859,273 (GRCm39)		probably benign	Het
Vmn1r11	G	A	6: 57,114,963 (GRCm39)	C209Y	probably benign	Het
Vps13c	A	T	9: 67,834,793 (GRCm39)	K1707N	probably damaging	Het

Other mutations in Sry

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:Sry	UTSW	Y	2,662,837 (GRCm39)	small insertion	probably benign
FR4340:Sry	UTSW	Y	2,662,824 (GRCm39)	small insertion	probably benign
FR4342:Sry	UTSW	Y	2,663,146 (GRCm39)	small deletion	probably benign
FR4342:Sry	UTSW	Y	2,662,835 (GRCm39)	small insertion	probably benign
FR4342:Sry	UTSW	Y	2,662,836 (GRCm39)	small insertion	probably benign
FR4342:Sry	UTSW	Y	2,662,839 (GRCm39)	small insertion	probably benign
FR4449:Sry	UTSW	Y	2,662,832 (GRCm39)	small insertion	probably benign
FR4449:Sry	UTSW	Y	2,662,818 (GRCm39)	small insertion	probably benign
FR4589:Sry	UTSW	Y	2,662,818 (GRCm39)	small insertion	probably benign
FR4737:Sry	UTSW	Y	2,663,195 (GRCm39)	small deletion	probably benign
FR4737:Sry	UTSW	Y	2,662,837 (GRCm39)	small insertion	probably benign
FR4737:Sry	UTSW	Y	2,662,838 (GRCm39)	small insertion	probably benign
FR4976:Sry	UTSW	Y	2,662,841 (GRCm39)	small insertion	probably benign
R0288:Sry	UTSW	Y	2,662,818 (GRCm39)	missense	unknown
R0506:Sry	UTSW	Y	2,662,864 (GRCm39)	missense	unknown
R0690:Sry	UTSW	Y	2,662,944 (GRCm39)	small deletion	probably benign
R0784:Sry	UTSW	Y	2,662,731 (GRCm39)	missense	unknown
R1555:Sry	UTSW	Y	2,662,975 (GRCm39)	missense	unknown
R1638:Sry	UTSW	Y	2,663,149 (GRCm39)	missense	unknown
R2110:Sry	UTSW	Y	2,662,901 (GRCm39)	missense	unknown
R2212:Sry	UTSW	Y	2,663,339 (GRCm39)	missense	probably damaging	0.99
R3150:Sry	UTSW	Y	2,662,944 (GRCm39)	small deletion	probably benign
R3552:Sry	UTSW	Y	2,663,141 (GRCm39)	missense	unknown
R4877:Sry	UTSW	Y	2,662,864 (GRCm39)	missense	unknown
R4888:Sry	UTSW	Y	2,663,105 (GRCm39)	missense	unknown
R5028:Sry	UTSW	Y	2,663,312 (GRCm39)	missense	probably damaging	0.97
R5266:Sry	UTSW	Y	2,662,975 (GRCm39)	missense	unknown
R5305:Sry	UTSW	Y	2,662,982 (GRCm39)	missense	unknown
R5335:Sry	UTSW	Y	2,663,647 (GRCm39)	missense	probably benign	0.08
R5587:Sry	UTSW	Y	2,662,625 (GRCm39)	missense	unknown
R5915:Sry	UTSW	Y	2,662,612 (GRCm39)	missense	unknown
R6183:Sry	UTSW	Y	2,662,975 (GRCm39)	missense	unknown
R6184:Sry	UTSW	Y	2,662,975 (GRCm39)	missense	unknown
R6187:Sry	UTSW	Y	2,662,975 (GRCm39)	missense	unknown
R6976:Sry	UTSW	Y	2,662,938 (GRCm39)	missense	unknown
R7358:Sry	UTSW	Y	2,662,638 (GRCm39)	small deletion	probably benign
R7632:Sry	UTSW	Y	2,662,638 (GRCm39)	small deletion	probably benign
R7678:Sry	UTSW	Y	2,663,248 (GRCm39)	missense	possibly damaging	0.83
R7737:Sry	UTSW	Y	2,662,638 (GRCm39)	small deletion	probably benign
R7812:Sry	UTSW	Y	2,662,638 (GRCm39)	small deletion	probably benign
R7829:Sry	UTSW	Y	2,662,638 (GRCm39)	small deletion	probably benign
R8005:Sry	UTSW	Y	2,663,303 (GRCm39)	missense	possibly damaging	0.88
R8028:Sry	UTSW	Y	2,662,638 (GRCm39)	small deletion	probably benign
R8082:Sry	UTSW	Y	2,662,589 (GRCm39)	missense	unknown
R8212:Sry	UTSW	Y	2,662,638 (GRCm39)	small deletion	probably benign
R8223:Sry	UTSW	Y	2,663,204 (GRCm39)	missense	unknown
R8252:Sry	UTSW	Y	2,663,298 (GRCm39)	missense	possibly damaging	0.91
R8390:Sry	UTSW	Y	2,662,638 (GRCm39)	small deletion	probably benign
R9027:Sry	UTSW	Y	2,662,638 (GRCm39)	small deletion	probably benign
R9429:Sry	UTSW	Y	2,662,638 (GRCm39)	small deletion	probably benign
RF002:Sry	UTSW	Y	2,662,564 (GRCm39)	small deletion	probably benign
RF006:Sry	UTSW	Y	2,662,638 (GRCm39)	small deletion	probably benign
RF008:Sry	UTSW	Y	2,662,826 (GRCm39)	small insertion	probably benign
RF040:Sry	UTSW	Y	2,662,590 (GRCm39)	small insertion	probably benign
RF063:Sry	UTSW	Y	2,662,595 (GRCm39)	frame shift	probably null

Predicted Primers

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

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

Posted On

2014-10-29