Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4342:Sry'

511309

Institutional Source

Beutler Lab

Gene Symbol

Sry

Ensembl Gene

ENSMUSG00000069036

Gene Name

sex determining region of Chr Y

Synonyms

Tdy, Tdf

Accession Numbers

Essential gene?

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

Stock #

FR4342 ()

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

2662471-2663658 bp(-) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GGT to GGTAGT at 2662839 bp (GRCm38)

Zygosity

Homozygous

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: 99.7%
3x: 99.4%
10x: 97.8%
20x: 93.8%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	TT	TTATGT	8: 124,839,833		probably null	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,742		probably benign	Het
4930433I11Rik	AACC	A	7: 40,993,055		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Homo
7530416G11Rik	T	A	15: 85,494,307	E45V	unknown	Homo
AF366264	G	C	8: 13,837,613	H159Q	probably benign	Het
Ankrd35	TCCCC	TCCC	3: 96,683,515		probably null	Het
Anxa2	CCC	CCCACC	9: 69,480,205		probably benign	Het
Anxa2	C	CCCA	9: 69,480,210		probably benign	Het
Apc	CAATAAAGC	CAATAAAGCAAATAAAGC	18: 34,281,999		probably benign	Homo
Arrb2	C	T	11: 70,438,671	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,509,497	V431I	probably benign	Homo
Begain	CCCCGCC	CCCCGCCCCCGCC	12: 109,033,418		probably benign	Homo
Catsper2	TCA	TCAACA	2: 121,397,793		probably benign	Het
Cd164	G	T	10: 41,521,926	A59S	probably benign	Homo
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Homo
Cluh	GAGCCT	GAGCCTCAGCCT	11: 74,669,524		probably benign	Het
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,669,526		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,575		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Het
Col6a5	A	T	9: 105,934,174	N715K	unknown	Homo
Cpeb4	T	TGA	11: 31,927,638		probably benign	Homo
D230025D16Rik	G	A	8: 105,241,098	G207E	probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,680		probably benign	Het
Defa29	C	G	8: 21,326,144	R69P	probably benign	Het
Dhx8	CG	CGAGAACGG	11: 101,738,206		probably null	Het
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dthd1	C	CTTA	5: 62,843,026		probably benign	Homo
E4f1	GC	GCCCC	17: 24,455,197		probably benign	Het
F830016B08Rik	A	ACAG	18: 60,299,941		probably benign	Homo
Fam166b	CAGAG	CAG	4: 43,427,384		probably null	Homo
Fbrsl1	GTGTGTGTGCTGGTGCGTGTGCTGGTG	GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG	5: 110,378,125		probably benign	Het
Fbxo22	A	C	9: 55,221,070		probably null	Het
Flg	G	A	3: 93,290,513		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,525,783		probably benign	Homo
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gjc2	T	TCCCG	11: 59,182,743		probably benign	Homo
Gm13103	AA	AATA	4: 143,851,643		probably null	Homo
Gm14496	A	C	2: 181,995,906	K258Q	probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,066		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,099		probably benign	Het
Gm7534	G	GCTC	4: 134,202,631		probably benign	Homo
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 78,842,178		probably benign	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Homo
Hist1h1t	TGTGG	TG	13: 23,695,913		probably benign	Homo
Hoxa3	G	GCTT	6: 52,170,130		probably benign	Homo
Ifi208	ATGGTG	ATG	1: 173,677,698		probably benign	Homo
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Klra10	G	A	6: 130,272,747	R192C	probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,375		probably benign	Het
Krt10	CGCC	CGCCGCC	11: 99,386,199		probably benign	Het
Krt10	ACC	ACCCCC	11: 99,386,203		probably benign	Homo
Lce1m	CGCTGCTGCTGCCACAGCA	C	3: 93,018,247		probably benign	Het
Mak16	T	G,A	8: 31,161,749	E203D	probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,275,988		probably benign	Het
Med12l	AGCGGC	AGCGGCGGC	3: 59,275,994		probably benign	Het
Mn1	AGC	AGCGGC	5: 111,419,706		probably benign	Het
Nacad	TC	TCAGGGGC	11: 6,599,762		probably benign	Het
Naip1	C	T	13: 100,425,471	R1062K	probably benign	Het
Ndel1	G	A	11: 68,833,409	P246L	probably damaging	Het
Nelfe	AC	ACAAAGAGCGGGATCGAGACAGAGCC	17: 34,854,089		probably benign	Het
Olfr495	A	G	7: 108,395,893	T258A	probably benign	Het
Olfr495	G	A	7: 108,395,898	M259I	probably benign	Het
Olfr635	TCC	TCCC	7: 103,979,903		probably null	Het
P4ha2	GTGTTGCTG	GTG	11: 54,110,251		probably benign	Homo
Park2	G	A	17: 11,854,763	V323M	probably damaging	Homo
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,534,775		probably benign	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,509		probably benign	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Homo
Plekhs1	AGAC	AGACCTCCCCCGCGAC	19: 56,479,861		probably benign	Homo
Pramef25	G	A	4: 143,949,742	T264M	probably damaging	Het
Pramef25	AAGAG	AAG	4: 143,949,757		probably null	Het
Ptms	TCT	TCTCCT	6: 124,914,454		probably benign	Homo
Raet1d	A	G	10: 22,371,559	Q178R	probably benign	Het
Rtbdn	AGCG	AGCGCCGGCG	8: 84,956,168		probably benign	Het
Rtbdn	GC	GCAGCGCC	8: 84,956,178		probably benign	Het
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Sfswap	CCCACTC	CCCACTCAGACCACTC	5: 129,569,757		probably benign	Homo
Sp110	ACT	ACTGCT	1: 85,587,488		probably benign	Het
Spaca1	GCTCTC	GCTCTCACTCTC	4: 34,049,838		probably benign	Het
Spag17	GGA	GGATGA	3: 100,056,249		probably benign	Het
Spag17	GGAGGAGGA	GGAGGAGGAGGA	3: 100,056,252		probably benign	Homo
Speer4a	C	A	5: 26,036,748	E127*	probably null	Het
Tdpoz3	C	T	3: 93,826,512	P165S	probably benign	Het
Tdpoz4	GAA	GA	3: 93,796,880		probably null	Het
Tert	AGGCC	AGGCCAAGGGGGCC	13: 73,648,300		probably benign	Homo
Tmbim7	C	T	5: 3,670,064	R100C	possibly damaging	Homo
Tnfrsf9	CT	CTGAT	4: 150,934,394		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,214,472		probably benign	Het
Trav6n-5	GCTT	G	14: 53,104,912		probably benign	Homo
Triobp	G	GTCA	15: 78,993,392		probably benign	Homo
Tsen2	AGG	AGGTGG	6: 115,560,072		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,306,956		probably benign	Het
Ubtf	TC	TCCCC	11: 102,306,959		probably benign	Het
Vmn2r125	G	A	4: 156,350,965	V213I	probably benign	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zdhhc16	G	A	19: 41,942,149		probably benign	Het
Zfp28	G	A	7: 6,394,863	G766R	probably damaging	Het
Zfp335	GTCGTC	GTCGTCGTC	2: 164,907,465		probably benign	Het
Zfp335	C	CCCC	2: 164,907,477		probably benign	Het
Zfp428	G	A	7: 24,515,081	D41N	probably damaging	Homo
Zfp429	A	T	13: 67,396,650	F48Y	probably benign	Het
Zfp598	CCACC	CCACCCACACC	17: 24,680,780		probably benign	Het
Zfp93	G	A	7: 24,275,586	R332H	possibly 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	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
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'- AGTAGGTAAGCTGCTGGTCG -3'
(R):5'- CAGCCTGTTGATATCCCCAC -3'

Sequencing Primer
(F):5'- AAGCTGCTGGTCGTGGAAC -3'
(R):5'- GCAGCAACAGCAGTTCTATG -3'

Posted On

2018-04-05