Mutagenetix > Incidental Mutation

Incidental Mutation 'R6786:Gm12695'

532360

Institutional Source

Beutler Lab

Gene Symbol

Gm12695

Ensembl Gene

ENSMUSG00000078639

Gene Name

predicted gene 12695

Synonyms

MMRRC Submission

044900-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96611884-96673423 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96651058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 132 (S132P)

Ref Sequence

ENSEMBL: ENSMUSP00000102686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107071]

AlphaFold

A2AGB2

Predicted Effect

probably damaging
Transcript: ENSMUST00000107071
AA Change: S132P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102686
Gene: ENSMUSG00000078639
AA Change: S132P

Domain	Start	End	E-Value	Type
low complexity region	226	237	N/A	INTRINSIC
low complexity region	360	371	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	C	A	4: 56,744,116 (GRCm39)	Y214*	probably null	Het
Adnp2	A	G	18: 80,172,960 (GRCm39)	V483A	probably benign	Het
Aif1	C	T	17: 35,390,472 (GRCm39)	V93M	probably damaging	Het
Alpk2	A	G	18: 65,439,705 (GRCm39)	S563P	probably benign	Het
Ank2	A	T	3: 126,752,581 (GRCm39)	N378K	probably damaging	Het
Ano4	C	T	10: 88,828,732 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,658,497 (GRCm39)	C2169Y	probably damaging	Het
Atp2b1	T	C	10: 98,852,821 (GRCm39)	C101R	probably damaging	Het
Bcs1l	C	T	1: 74,629,844 (GRCm39)	R224C	probably damaging	Het
Car2	T	C	3: 14,951,710 (GRCm39)		probably benign	Het
Cbln1	T	C	8: 88,198,657 (GRCm39)	N71S	probably benign	Het
Cdh8	T	A	8: 99,950,579 (GRCm39)	T224S	probably benign	Het
Cdin1	A	G	2: 115,462,462 (GRCm39)	I65V	probably benign	Het
Cep131	G	A	11: 119,956,218 (GRCm39)	R1014W	probably damaging	Het
Cfap61	T	C	2: 145,887,363 (GRCm39)	S603P	possibly damaging	Het
Chd8	G	T	14: 52,464,125 (GRCm39)	L659I	probably benign	Het
Ckap5	G	A	2: 91,387,920 (GRCm39)	G255D	probably benign	Het
Clec18a	C	A	8: 111,807,572 (GRCm39)	W126L	probably benign	Het
Cux1	T	A	5: 136,596,085 (GRCm39)	N4Y	probably damaging	Het
Dgcr8	A	T	16: 18,101,693 (GRCm39)	Y196*	probably null	Het
Dnah14	A	T	1: 181,468,970 (GRCm39)	I1267F	probably benign	Het
Dock7	T	C	4: 98,949,529 (GRCm39)	N438D	probably benign	Het
Dock8	A	T	19: 25,160,386 (GRCm39)	H1763L	possibly damaging	Het
Elp1	T	C	4: 56,771,555 (GRCm39)	D914G	possibly damaging	Het
Fpr-rs6	A	T	17: 20,403,100 (GRCm39)	M87K	possibly damaging	Het
Gabrg1	A	G	5: 70,911,610 (GRCm39)	S339P	probably benign	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm3443	T	A	19: 21,533,128 (GRCm39)	C31S	probably damaging	Het
Gzmf	A	T	14: 56,444,452 (GRCm39)	F40L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,072,522 (GRCm39)	E604G	probably benign	Het
Marveld3	C	A	8: 110,674,732 (GRCm39)	K361N	probably benign	Het
Mgat4b	A	T	11: 50,121,525 (GRCm39)	Y47F	probably damaging	Het
Mmel1	G	T	4: 154,976,885 (GRCm39)	E520*	probably null	Het
Msantd5f6	A	T	4: 73,321,843 (GRCm39)	M64K	possibly damaging	Het
Muc21	T	C	17: 35,934,057 (GRCm39)		probably benign	Het
Myod1	A	G	7: 46,027,741 (GRCm39)	T294A	probably benign	Het
Nfix	A	T	8: 85,454,276 (GRCm39)	S219T	probably damaging	Het
Nr4a2	A	G	2: 57,001,920 (GRCm39)	F115L	probably benign	Het
Numa1	A	C	7: 101,641,845 (GRCm39)	M98L	probably benign	Het
Or5b105	T	C	19: 13,080,567 (GRCm39)	I28V	probably benign	Het
P3h1	C	T	4: 119,095,151 (GRCm39)	L303F	possibly damaging	Het
Pias4	G	A	10: 80,993,080 (GRCm39)	T5I	probably damaging	Het
Pik3ip1	A	G	11: 3,282,124 (GRCm39)	N68S	probably benign	Het
Pkdrej	T	C	15: 85,702,850 (GRCm39)	T1029A	probably benign	Het
Recql	A	T	6: 142,310,278 (GRCm39)	D517E	probably benign	Het
Sall2	G	T	14: 52,552,078 (GRCm39)	H372Q	probably damaging	Het
Scn8a	A	C	15: 100,930,096 (GRCm39)	I1436L	probably benign	Het
Slc4a5	T	C	6: 83,273,729 (GRCm39)		probably null	Het
Stox2	A	C	8: 47,639,500 (GRCm39)	F898C	probably damaging	Het
Sumo2	A	T	11: 115,414,601 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,025,345 (GRCm39)	E366K	possibly damaging	Het
Tanc1	A	G	2: 59,622,150 (GRCm39)	K423R	probably benign	Het
Tbx21	T	A	11: 97,005,872 (GRCm39)	Q31L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Trav18	G	A	14: 54,069,122 (GRCm39)	V55I	probably benign	Het
Trgc1	A	T	13: 19,400,646 (GRCm39)	D125V	unknown	Het
Trim55	A	G	3: 19,726,938 (GRCm39)	D335G	probably benign	Het
Trim71	T	A	9: 114,341,772 (GRCm39)	T837S	probably benign	Het
Vmn1r56	T	C	7: 5,198,961 (GRCm39)	T219A	probably benign	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Xaf1	A	G	11: 72,197,461 (GRCm39)	T146A	probably benign	Het
Zdbf2	T	C	1: 63,343,679 (GRCm39)	V686A	possibly damaging	Het
Zfp65	T	C	13: 67,856,130 (GRCm39)	H383R	probably damaging	Het
Zfp932	A	G	5: 110,157,606 (GRCm39)	T435A	probably damaging	Het
Zfp947	C	T	17: 22,364,750 (GRCm39)	G308D	probably benign	Het
Zswim3	T	A	2: 164,662,771 (GRCm39)	V417E	probably damaging	Het

Other mutations in Gm12695

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Gm12695	APN	4	96,637,419 (GRCm39)	missense	probably damaging	1.00
IGL01016:Gm12695	APN	4	96,646,184 (GRCm39)	missense	probably benign	0.03
IGL02605:Gm12695	APN	4	96,650,988 (GRCm39)	missense	probably null	0.92
IGL02734:Gm12695	APN	4	96,612,267 (GRCm39)	nonsense	probably null
IGL02869:Gm12695	APN	4	96,650,370 (GRCm39)	splice site	probably benign
IGL02895:Gm12695	APN	4	96,612,186 (GRCm39)	missense	probably damaging	0.99
R0020:Gm12695	UTSW	4	96,657,972 (GRCm39)	missense	probably damaging	0.96
R0465:Gm12695	UTSW	4	96,673,312 (GRCm39)	missense	probably damaging	1.00
R0941:Gm12695	UTSW	4	96,616,454 (GRCm39)	nonsense	probably null
R0968:Gm12695	UTSW	4	96,650,303 (GRCm39)	missense	probably damaging	1.00
R1965:Gm12695	UTSW	4	96,651,082 (GRCm39)	missense	probably benign	0.16
R1983:Gm12695	UTSW	4	96,627,214 (GRCm39)	missense	possibly damaging	0.84
R2051:Gm12695	UTSW	4	96,658,008 (GRCm39)	missense	probably damaging	0.99
R2063:Gm12695	UTSW	4	96,657,963 (GRCm39)	missense	probably benign	0.14
R2064:Gm12695	UTSW	4	96,657,963 (GRCm39)	missense	probably benign	0.14
R2065:Gm12695	UTSW	4	96,657,963 (GRCm39)	missense	probably benign	0.14
R2066:Gm12695	UTSW	4	96,657,963 (GRCm39)	missense	probably benign	0.14
R2067:Gm12695	UTSW	4	96,657,963 (GRCm39)	missense	probably benign	0.14
R2073:Gm12695	UTSW	4	96,612,182 (GRCm39)	missense	possibly damaging	0.76
R2075:Gm12695	UTSW	4	96,612,182 (GRCm39)	missense	possibly damaging	0.76
R2233:Gm12695	UTSW	4	96,612,266 (GRCm39)	missense	probably damaging	1.00
R2234:Gm12695	UTSW	4	96,612,266 (GRCm39)	missense	probably damaging	1.00
R2327:Gm12695	UTSW	4	96,657,893 (GRCm39)	missense	probably benign	0.00
R2507:Gm12695	UTSW	4	96,642,426 (GRCm39)	missense	probably damaging	0.99
R3836:Gm12695	UTSW	4	96,650,334 (GRCm39)	missense	probably damaging	0.99
R4685:Gm12695	UTSW	4	96,650,217 (GRCm39)	missense	probably damaging	1.00
R5491:Gm12695	UTSW	4	96,657,905 (GRCm39)	missense	possibly damaging	0.84
R5792:Gm12695	UTSW	4	96,616,520 (GRCm39)	missense	probably benign	0.00
R6767:Gm12695	UTSW	4	96,650,933 (GRCm39)	splice site	probably null
R6874:Gm12695	UTSW	4	96,673,306 (GRCm39)	missense	probably benign	0.04
R6923:Gm12695	UTSW	4	96,658,053 (GRCm39)	missense	probably benign	0.00
R6978:Gm12695	UTSW	4	96,657,959 (GRCm39)	missense	possibly damaging	0.69
R7810:Gm12695	UTSW	4	96,619,608 (GRCm39)	missense	probably damaging	0.99
R8263:Gm12695	UTSW	4	96,651,046 (GRCm39)	missense	probably benign	0.00
R8272:Gm12695	UTSW	4	96,612,183 (GRCm39)	missense	possibly damaging	0.76
R8285:Gm12695	UTSW	4	96,657,990 (GRCm39)	missense	possibly damaging	0.76
R8924:Gm12695	UTSW	4	96,651,046 (GRCm39)	missense	probably benign	0.00
R9115:Gm12695	UTSW	4	96,657,846 (GRCm39)	missense	possibly damaging	0.69
R9444:Gm12695	UTSW	4	96,612,195 (GRCm39)	missense	probably damaging	1.00
R9462:Gm12695	UTSW	4	96,651,075 (GRCm39)	missense	probably benign	0.26
R9725:Gm12695	UTSW	4	96,616,466 (GRCm39)	missense	probably damaging	1.00
Z1177:Gm12695	UTSW	4	96,637,460 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCCATCCACTGATATTCTAACCAG -3'
(R):5'- CTGGAAATTCAGTTACTCCATGGC -3'

Sequencing Primer
(F):5'- ATACACACCTCTGCTTGG -3'
(R):5'- GCATCATGGCCCAAGTTTCG -3'

Posted On

2018-08-29