Mutagenetix > Incidental Mutation

Incidental Mutation 'R5915:Sry'

508652

Institutional Source

Beutler Lab

Gene Symbol

Sry

Ensembl Gene

ENSMUSG00000069036

Gene Name

sex determining region of Chr Y

Synonyms

Tdy, Tdf

MMRRC Submission

044112-MU

Accession Numbers

Essential gene?

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

Stock #

R5915 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

2662471-2663658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 2662612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 349 (Q349H)

Ref Sequence

ENSEMBL: ENSMUSP00000088717 (fasta)

Gene Model

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

AlphaFold

Q05738

Predicted Effect

unknown
Transcript: ENSMUST00000091178
AA Change: Q349H

SMART Domains

Protein: ENSMUSP00000088717
Gene: ENSMUSG00000069036
AA Change: Q349H

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (60/61)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,667,163	V940E	probably damaging	Het
Adgrg7	A	T	16: 56,730,385		probably null	Het
Alox12e	T	C	11: 70,318,224	I399V	possibly damaging	Het
Apoa5	C	A	9: 46,269,309	Q42K	probably damaging	Het
Arfgap1	A	G	2: 180,978,422	Y243C	possibly damaging	Het
Arhgap12	A	G	18: 6,037,016		probably null	Het
Arl16	G	A	11: 120,466,605		probably benign	Het
Atp8b5	A	G	4: 43,370,577	D951G	probably damaging	Het
Babam2	T	A	5: 31,785,611	L80Q	probably damaging	Het
Celsr1	C	T	15: 85,937,975	V1714I	probably benign	Het
Celsr1	C	T	15: 86,030,349	R1141H	probably damaging	Het
Cep295	A	G	9: 15,341,479	L351P	probably damaging	Het
Dlc1	T	A	8: 36,938,675		probably benign	Het
Dpy30	G	T	17: 74,315,911	D25E	probably benign	Het
Drosha	T	C	15: 12,935,066	W998R	probably damaging	Het
Fibp	A	G	19: 5,463,616	D220G	possibly damaging	Het
Grm3	C	T	5: 9,511,927	C641Y	probably damaging	Het
Gulo	A	T	14: 66,008,121	V8D	probably benign	Het
Ifrd1	A	T	12: 40,213,096	C164S	possibly damaging	Het
Jam2	G	A	16: 84,809,407	S103N	probably benign	Het
Krtap17-1	T	C	11: 99,993,618	T108A	unknown	Het
Man2a2	A	G	7: 80,360,921	F774S	probably benign	Het
Map1b	G	A	13: 99,430,331	R1961W	unknown	Het
Mib2	A	G	4: 155,656,051		probably benign	Het
Mr1	A	T	1: 155,136,788	F127I	probably damaging	Het
Mrgprb2	A	G	7: 48,552,806	I57T	probably benign	Het
Ncan	G	T	8: 70,098,081	Y1154*	probably null	Het
Nfx1	T	A	4: 40,977,285	S320T	probably benign	Het
Nlrp4f	A	G	13: 65,187,555	L740P	probably damaging	Het
Nprl2	T	C	9: 107,545,078		probably benign	Het
Olfr1350	A	T	7: 6,570,173	I61F	probably benign	Het
Opn1sw	A	G	6: 29,379,755		probably null	Het
Palld	A	G	8: 61,533,352		probably null	Het
Phf14	T	A	6: 11,933,727	M196K	possibly damaging	Het
Rnf145	T	C	11: 44,542,722		probably null	Het
Sbf2	A	T	7: 110,378,096	C610*	probably null	Het
Sec24a	C	T	11: 51,756,137	A13T	probably benign	Het
Smim8	TCTCCTC	TCTC	4: 34,769,010		probably benign	Het
Sox8	A	C	17: 25,567,469	L420R	probably damaging	Het
Sspo	A	G	6: 48,464,596	D1889G	probably benign	Het
Sspo	A	T	6: 48,491,484	H4382L	possibly damaging	Het
Tmem65	T	C	15: 58,790,188	I141V	probably damaging	Het
Tpr	A	T	1: 150,425,649	T1329S	probably benign	Het
Trim17	C	T	11: 58,968,562	R201W	probably damaging	Het
Trim3	A	G	7: 105,617,975	L399P	possibly damaging	Het
Trim7	A	G	11: 48,845,650	D277G	possibly damaging	Het
Vstm2b	A	G	7: 40,902,683	N153S	possibly damaging	Het
Wnk2	G	T	13: 49,078,085	Q786K	probably damaging	Het
Wnk4	A	G	11: 101,263,894	*286W	probably null	Het
Xpot	A	T	10: 121,615,093	L134Q	probably damaging	Het
Ylpm1	C	T	12: 85,040,886	P1148L	probably damaging	Het
Zc3h7a	G	A	16: 11,164,602	Q20*	probably null	Het
Zfp599	C	T	9: 22,249,834	C345Y	probably damaging	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
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'- AAGGAAGGAGCAGGACCTTT -3'
(R):5'- CCTGTTGATATCCCCACTGG -3'

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

Posted On

2018-03-16