Mutagenetix > Incidental Mutation

Incidental Mutation 'R4703:AA986860'

356176

Institutional Source

Beutler Lab

Gene Symbol

AA986860

Ensembl Gene

ENSMUSG00000042510

Gene Name

expressed sequence AA986860

Synonyms

MMRRC Submission

041951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130731976-130744622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130743355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 438 (V438A)

Ref Sequence

ENSEMBL: ENSMUSP00000046172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039323]

AlphaFold

Q8BI29

Predicted Effect

probably benign
Transcript: ENSMUST00000039323
AA Change: V438A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: V438A

Domain	Start	End	E-Value	Type
Pfam:SARG	33	606	1e-235	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190859

Meta Mutation Damage Score

0.0841

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (98/101)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	A	13: 59,689,528 (GRCm38)	T248S	possibly damaging	Het
Adam25	G	T	8: 40,754,126 (GRCm38)	C143F	probably damaging	Het
Aox2	T	A	1: 58,358,957 (GRCm38)	F1286I	possibly damaging	Het
Apobec4	A	G	1: 152,756,250 (GRCm38)	T10A	probably benign	Het
Arhgap5	C	T	12: 52,517,583 (GRCm38)	P446S	probably damaging	Het
Arhgef40	A	G	14: 52,002,310 (GRCm38)	N1327S	probably damaging	Het
Armc12	A	G	17: 28,532,362 (GRCm38)	D110G	probably benign	Het
Ascc1	A	G	10: 60,049,802 (GRCm38)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,688,945 (GRCm38)	K39N	possibly damaging	Het
B4galnt1	G	T	10: 127,167,525 (GRCm38)	V172F	possibly damaging	Het
B4galt1	A	G	4: 40,823,569 (GRCm38)	V174A	probably benign	Het
Bcl11a	C	A	11: 24,163,725 (GRCm38)	A356E	possibly damaging	Het
Bri3bp	C	T	5: 125,451,766 (GRCm38)	L110F	probably damaging	Het
Cacna1b	T	C	2: 24,654,463 (GRCm38)	D1231G	probably damaging	Het
Ccdc33	T	A	9: 58,033,670 (GRCm38)	I430F	possibly damaging	Het
Cgn	A	G	3: 94,776,095 (GRCm38)		probably benign	Het
Crbn	T	A	6: 106,782,922 (GRCm38)	I317F	possibly damaging	Het
Cyp2d22	A	C	15: 82,375,917 (GRCm38)	L22R	probably damaging	Het
Dnah7a	C	T	1: 53,447,317 (GRCm38)		probably null	Het
Dnajc12	A	G	10: 63,386,650 (GRCm38)		probably null	Het
Dntt	T	A	19: 41,039,803 (GRCm38)	D179E	probably benign	Het
Enam	T	A	5: 88,503,791 (GRCm38)	L1053*	probably null	Het
Epn1	T	A	7: 5,095,148 (GRCm38)	D319E	probably damaging	Het
Evpl	C	G	11: 116,222,505 (GRCm38)	R1453P	probably damaging	Het
Focad	T	A	4: 88,342,321 (GRCm38)		probably null	Het
Foxp2	A	T	6: 15,411,248 (GRCm38)	M542L	probably benign	Het
Gak	T	A	5: 108,569,877 (GRCm38)	Q1299L	probably damaging	Het
Galnt5	G	T	2: 57,998,907 (GRCm38)	R173I	possibly damaging	Het
Gli1	G	T	10: 127,330,855 (GRCm38)	P843Q	possibly damaging	Het
Gm5422	G	T	10: 31,249,612 (GRCm38)		noncoding transcript	Het
Gna14	T	G	19: 16,598,980 (GRCm38)	V117G	possibly damaging	Het
Gpr6	T	C	10: 41,071,041 (GRCm38)	T182A	probably damaging	Het
Ifi204	C	A	1: 173,760,361 (GRCm38)		probably benign	Het
Ifih1	A	T	2: 62,598,876 (GRCm38)	L906H	probably benign	Het
Ift88	A	G	14: 57,480,850 (GRCm38)		probably benign	Het
Ighd	A	G	12: 113,416,041 (GRCm38)		probably benign	Het
Ighv11-1	A	C	12: 113,982,002 (GRCm38)	I77R	possibly damaging	Het
Il22	A	T	10: 118,205,606 (GRCm38)	I75F	probably damaging	Het
Il23r	A	T	6: 67,490,702 (GRCm38)	I27K	probably damaging	Het
Inpp5a	A	C	7: 139,558,923 (GRCm38)	N261T	probably damaging	Het
Ints8	T	G	4: 11,223,785 (GRCm38)	Q686P	possibly damaging	Het
Iqcf4	T	C	9: 106,568,320 (GRCm38)		probably null	Het
Irf2bp1	C	T	7: 19,005,571 (GRCm38)	R379C	possibly damaging	Het
Iws1	C	T	18: 32,080,013 (GRCm38)	P165S	probably benign	Het
Kalrn	T	C	16: 34,203,957 (GRCm38)	D610G	probably damaging	Het
Kcna10	A	T	3: 107,194,610 (GRCm38)	I186F	probably benign	Het
Limk2	C	A	11: 3,347,586 (GRCm38)	E329*	probably null	Het
Nadk	C	A	4: 155,585,227 (GRCm38)	P157T	probably benign	Het
Notch1	T	G	2: 26,471,158 (GRCm38)	K1107Q	probably benign	Het
Nsd1	T	A	13: 55,214,063 (GRCm38)	D281E	probably damaging	Het
Olfml2a	T	A	2: 38,951,238 (GRCm38)	L262Q	probably damaging	Het
Olfr1294	T	A	2: 111,537,768 (GRCm38)	I174L	probably benign	Het
Olfr231	A	G	1: 174,117,398 (GRCm38)	I206T	possibly damaging	Het
Olfr371	A	G	8: 85,230,608 (GRCm38)	T38A	possibly damaging	Het
Olfr374	T	A	8: 72,110,200 (GRCm38)	F211L	probably damaging	Het
Olfr557	A	T	7: 102,698,270 (GRCm38)	T11S	probably benign	Het
Otogl	A	C	10: 107,821,924 (GRCm38)	D1048E	probably damaging	Het
Oxnad1	T	C	14: 32,095,470 (GRCm38)	W96R	probably damaging	Het
Pcdh15	A	T	10: 74,450,163 (GRCm38)	D743V	probably damaging	Het
Pclo	A	G	5: 14,676,480 (GRCm38)		probably benign	Het
Pcnx	C	T	12: 81,895,164 (GRCm38)	T112I	probably benign	Het
Pctp	T	C	11: 89,987,273 (GRCm38)	E145G	possibly damaging	Het
Pip5k1b	T	C	19: 24,355,153 (GRCm38)	K389R	probably damaging	Het
Pla2g15	T	A	8: 106,163,059 (GRCm38)	M321K	probably benign	Het
Pnlip	T	A	19: 58,676,467 (GRCm38)	D242E	probably damaging	Het
Ptpn21	T	C	12: 98,679,392 (GRCm38)	T1096A	probably benign	Het
Rims3	A	T	4: 120,883,297 (GRCm38)		probably benign	Het
Rnf219	A	G	14: 104,506,208 (GRCm38)	L145P	probably benign	Het
Scfd2	T	A	5: 74,519,595 (GRCm38)	Q299L	probably benign	Het
Selplg	T	C	5: 113,819,033 (GRCm38)	D404G	probably benign	Het
Slc15a5	T	C	6: 138,055,645 (GRCm38)	D237G	probably benign	Het
Slc16a12	T	A	19: 34,674,891 (GRCm38)	H285L	possibly damaging	Het
Sox2	C	A	3: 34,650,713 (GRCm38)	R100S	probably damaging	Het
Sspo	G	A	6: 48,500,453 (GRCm38)	C4969Y	probably damaging	Het
Stxbp2	A	G	8: 3,632,521 (GRCm38)	S37G	probably damaging	Het
Tbxas1	T	C	6: 39,083,857 (GRCm38)		probably null	Het
Tcf4	A	G	18: 69,657,910 (GRCm38)	Y307C	probably damaging	Het
Thsd7b	A	T	1: 130,049,909 (GRCm38)		probably benign	Het
Tnn	G	T	1: 160,116,245 (GRCm38)	D999E	possibly damaging	Het
Trmt13	C	A	3: 116,594,598 (GRCm38)	W63L	probably benign	Het
Tsc2	T	C	17: 24,604,909 (GRCm38)	N915S	probably benign	Het
Tyrp1	T	A	4: 80,840,806 (GRCm38)		probably null	Het
Uvrag	A	T	7: 98,989,587 (GRCm38)	I315N	probably damaging	Het
Vmn1r31	C	A	6: 58,471,968 (GRCm38)	*304L	probably null	Het
Vmn2r59	T	A	7: 42,012,262 (GRCm38)	I710L	probably benign	Het
Vmn2r82	A	T	10: 79,378,807 (GRCm38)	H208L	probably damaging	Het
Wtap	T	C	17: 12,980,824 (GRCm38)	T91A	probably benign	Het
Xirp1	A	T	9: 120,017,027 (GRCm38)	V930E	probably damaging	Het
Xpo4	T	G	14: 57,590,108 (GRCm38)	H877P	probably benign	Het

Other mutations in AA986860

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:AA986860	APN	1	130,742,836 (GRCm38)	missense	possibly damaging	0.69
IGL01761:AA986860	APN	1	130,742,722 (GRCm38)	missense	possibly damaging	0.70
IGL02557:AA986860	APN	1	130,742,707 (GRCm38)	missense	probably benign	0.02
IGL03003:AA986860	APN	1	130,743,772 (GRCm38)	missense	probably damaging	1.00
IGL02802:AA986860	UTSW	1	130,743,393 (GRCm38)	missense	probably benign	0.00
R0326:AA986860	UTSW	1	130,742,898 (GRCm38)	missense	possibly damaging	0.87
R0483:AA986860	UTSW	1	130,743,825 (GRCm38)	missense	probably damaging	1.00
R0906:AA986860	UTSW	1	130,737,693 (GRCm38)	splice site	probably benign
R0932:AA986860	UTSW	1	130,737,693 (GRCm38)	splice site	probably null
R1522:AA986860	UTSW	1	130,743,094 (GRCm38)	missense	probably damaging	1.00
R1762:AA986860	UTSW	1	130,737,688 (GRCm38)	critical splice donor site	probably null
R1874:AA986860	UTSW	1	130,742,691 (GRCm38)	missense	probably benign	0.06
R2083:AA986860	UTSW	1	130,741,069 (GRCm38)	missense	probably damaging	1.00
R2091:AA986860	UTSW	1	130,743,169 (GRCm38)	missense	probably benign	0.01
R2093:AA986860	UTSW	1	130,743,304 (GRCm38)	missense	probably benign	0.13
R3546:AA986860	UTSW	1	130,741,189 (GRCm38)	splice site	probably benign
R3915:AA986860	UTSW	1	130,742,607 (GRCm38)	missense	probably benign
R4679:AA986860	UTSW	1	130,742,403 (GRCm38)	missense	possibly damaging	0.67
R4890:AA986860	UTSW	1	130,740,988 (GRCm38)	splice site	probably benign
R4988:AA986860	UTSW	1	130,742,710 (GRCm38)	missense	probably damaging	1.00
R5171:AA986860	UTSW	1	130,742,847 (GRCm38)	missense	probably benign	0.23
R5327:AA986860	UTSW	1	130,741,003 (GRCm38)	missense	probably damaging	1.00
R5424:AA986860	UTSW	1	130,742,941 (GRCm38)	missense	probably damaging	1.00
R5763:AA986860	UTSW	1	130,743,031 (GRCm38)	missense	possibly damaging	0.53
R5799:AA986860	UTSW	1	130,741,171 (GRCm38)	nonsense	probably null
R6247:AA986860	UTSW	1	130,743,043 (GRCm38)	missense	possibly damaging	0.78
R7124:AA986860	UTSW	1	130,742,887 (GRCm38)	missense	possibly damaging	0.67
R7747:AA986860	UTSW	1	130,743,547 (GRCm38)	missense	possibly damaging	0.60
Z1176:AA986860	UTSW	1	130,742,991 (GRCm38)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- AAGATGATCCCAGTCTGCTTG -3'
(R):5'- GCTGAGAGATAGCTGCTCAG -3'

Sequencing Primer
(F):5'- CTCAAAGTCAGGGAGGCTC -3'
(R):5'- TCAGCCCTACGCCTGAACG -3'

Posted On

2015-10-21