Mutagenetix > Incidental Mutations

Incidental Mutation 'R5335:Sry'

423506

Institutional Source

Beutler Lab

Gene Symbol

Sry

Ensembl Gene

ENSMUSG00000069036

Gene Name

sex determining region of Chr Y

Synonyms

Tdy, Tdf

MMRRC Submission

042916-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5335 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

2662471-2663658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 2663647 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 4 (H4Q)

Ref Sequence

ENSEMBL: ENSMUSP00000088717 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000091178
AA Change: H4Q

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: H4Q

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (62/63)

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
2010003K11Rik	A	G	19: 4,498,264	W86R	probably damaging	Het
Als2cr11b	T	A	1: 59,004,234		noncoding transcript	Het
Ankrd6	T	C	4: 32,818,651	E225G	probably damaging	Het
Armc4	A	T	18: 7,294,566	Y16N	probably benign	Het
Atxn10	A	G	15: 85,336,584		probably null	Het
Bcas2	A	G	3: 103,175,635	I146V	probably damaging	Het
Cachd1	G	A	4: 100,968,085	V579I	possibly damaging	Het
Col11a1	A	G	3: 114,095,240	T311A	unknown	Het
Cyp2c50	A	T	19: 40,090,616	L134F	probably benign	Het
Cyp2j11	T	C	4: 96,307,352	H369R	probably damaging	Het
Dis3	A	G	14: 99,097,653	V171A	possibly damaging	Het
Dnah12	A	G	14: 26,879,738	N3718D	probably damaging	Het
Dnah17	T	C	11: 118,112,514	I541V	probably damaging	Het
Eif3i	T	C	4: 129,595,186	D86G	probably benign	Het
Epc1	C	T	18: 6,490,689		probably benign	Het
Epc2	A	G	2: 49,513,230	N110S	probably benign	Het
Epha8	A	T	4: 136,931,935	L831Q	probably damaging	Het
Esd	G	T	14: 74,742,113	R119I	probably damaging	Het
F2	T	C	2: 91,634,932	K96E	possibly damaging	Het
Fcgbp	T	C	7: 28,089,734	V575A	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gemin6	T	C	17: 80,225,755	V39A	probably damaging	Het
Glmp	G	T	3: 88,326,655		probably benign	Het
Gm10306	C	A	4: 94,556,807		probably benign	Het
Gm4846	A	T	1: 166,497,453	L23*	probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Grik1	CGG	CGGG	16: 87,923,194		probably null	Het
Ifi203	T	C	1: 173,926,919	T749A	possibly damaging	Het
Kcnip2	C	A	19: 45,794,246	A133S	probably benign	Het
Limch1	A	T	5: 66,881,957	I76F	probably damaging	Het
Mcph1	T	A	8: 18,689,061		probably null	Het
Myh7	A	G	14: 54,986,563		probably benign	Het
Olfr11	A	C	13: 21,638,779	V248G	probably damaging	Het
Olfr1106	T	G	2: 87,049,165	K24Q	probably damaging	Het
Olfr346	A	T	2: 36,688,094	I31F	probably benign	Het
Olfr54	A	C	11: 51,027,334	N111H	probably benign	Het
Olfr583	A	C	7: 103,051,535	D79A	probably damaging	Het
Olfr601	A	C	7: 103,358,522	L224R	probably damaging	Het
Olfr700	A	C	7: 106,805,734	S243A	probably damaging	Het
Opcml	A	G	9: 28,675,325	D113G	possibly damaging	Het
Pcdhb1	G	T	18: 37,267,255	C753F	probably benign	Het
Phip	T	C	9: 82,900,756	S879G	possibly damaging	Het
Pi4k2b	A	G	5: 52,741,756	D13G	possibly damaging	Het
Ptpn18	A	T	1: 34,463,178	I68F	probably damaging	Het
Rnf168	C	T	16: 32,298,584	T321I	possibly damaging	Het
Soga3	A	T	10: 29,147,106	I150L	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Srgap1	C	T	10: 121,785,377		probably benign	Het
Taf2	G	A	15: 55,045,740	A703V	probably benign	Het
Taf5l	A	G	8: 124,003,651	F65L	probably damaging	Het
Tcp10b	T	C	17: 13,063,067		probably null	Het
Timm44	A	T	8: 4,266,814	I273N	probably damaging	Het
Tspan4	A	G	7: 141,489,615	T43A	probably damaging	Het
Ube2r2	T	C	4: 41,190,846		probably benign	Het
Urgcp	T	C	11: 5,717,754	T195A	possibly damaging	Het
Vmn1r197	T	C	13: 22,328,191	I94T	probably damaging	Het
Vmn2r15	A	T	5: 109,286,807	I677K	probably damaging	Het
Zfp853	T	A	5: 143,288,563	H434L	unknown	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
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
R7472: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

Predicted Primers

PCR Primer
(F):5'- TAGGATCTTCAATCTCTGTGCC -3'
(R):5'- AGCACATTTTGGTCAGTGGC -3'

Sequencing Primer
(F):5'- TCTGTGCCTCCTGGAAAAAG -3'
(R):5'- GGTCAGTGGCTTTTAGCTCTTACAC -3'

Posted On

2016-08-04