Mutagenetix > Incidental Mutation

Incidental Mutation 'R1946:Gm13119'

216659

Institutional Source

Beutler Lab

Gene Symbol

Gm13119

Ensembl Gene

ENSMUSG00000070619

Gene Name

predicted gene 13119

Synonyms

MMRRC Submission

039964-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144357942-144364419 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144361865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 77 (V77E)

Ref Sequence

ENSEMBL: ENSMUSP00000092103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094526]

AlphaFold

B1ARV5

Predicted Effect

probably benign
Transcript: ENSMUST00000094526
AA Change: V77E

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: V77E

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	414	3e-10	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,891,704	S253P	probably damaging	Het
Adamts5	C	A	16: 85,899,243	C342F	probably damaging	Het
Adgrv1	C	T	13: 81,374,249	C5923Y	probably damaging	Het
Aen	G	C	7: 78,902,672	E32Q	probably damaging	Het
Apba2	T	C	7: 64,744,630		probably null	Het
Arhgap44	A	G	11: 65,012,096	M509T	probably damaging	Het
Arpc1b	A	G	5: 145,122,633	T56A	probably null	Het
Atoh1	T	C	6: 64,729,459	V46A	probably benign	Het
Bmpr2	T	C	1: 59,868,397	V883A	possibly damaging	Het
Bpifa1	A	T	2: 154,145,634	I135F	probably damaging	Het
Bsn	A	G	9: 108,114,651	F1301L	probably damaging	Het
Capn13	T	C	17: 73,350,525	E240G	possibly damaging	Het
Ccdc18	A	G	5: 108,228,995	E1434G	probably damaging	Het
Coq8b	G	A	7: 27,239,874	V150I	possibly damaging	Het
Cpn1	G	A	19: 43,956,518	T450M	probably benign	Het
Dlg4	A	G	11: 70,039,575	Y432C	probably damaging	Het
Dnah8	C	A	17: 30,712,385	T1458K	probably benign	Het
Dock5	A	T	14: 67,786,316	M1132K	probably damaging	Het
Dsg2	A	G	18: 20,580,548	D192G	probably damaging	Het
F930017D23Rik	G	A	10: 43,593,444		noncoding transcript	Het
Fndc11	A	T	2: 181,221,834	D144V	probably benign	Het
Fut2	A	G	7: 45,651,324	F8S	probably damaging	Het
Gad2	A	T	2: 22,685,428	T515S	probably benign	Het
Ganab	T	A	19: 8,910,808	D439E	probably damaging	Het
Gm10228	C	A	16: 89,041,353	G21V	unknown	Het
Gm9573	A	T	17: 35,622,524		probably benign	Het
Grm3	A	G	5: 9,512,123	W576R	probably damaging	Het
Gsdmc4	C	A	15: 63,902,780	D51Y	probably benign	Het
Hmcn2	T	C	2: 31,405,635	S2619P	probably damaging	Het
Kcnq2	T	A	2: 181,088,451	D446V	probably benign	Het
Kera	A	G	10: 97,609,147	K123E	probably benign	Het
Kmt2c	A	T	5: 25,315,154	V1986E	probably benign	Het
Lrp11	T	C	10: 7,623,776	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,665,147	D320V	unknown	Het
Lrrcc1	A	G	3: 14,550,393	R394G	probably benign	Het
Lrrk2	G	A	15: 91,736,661		probably null	Het
Map4k5	A	T	12: 69,845,755	D133E	probably damaging	Het
Megf11	A	T	9: 64,679,276	D461V	probably damaging	Het
Msrb3	A	G	10: 120,852,008	V54A	probably damaging	Het
Ncoa3	T	A	2: 166,059,177	N896K	possibly damaging	Het
Ncor2	G	A	5: 125,034,412	T1314I	probably damaging	Het
Nes	A	G	3: 87,978,514	Q1316R	possibly damaging	Het
Nfe2l3	A	C	6: 51,457,315	Q285P	probably damaging	Het
Nkd1	C	T	8: 88,592,117	H357Y	probably damaging	Het
Nmt2	T	A	2: 3,322,635	I355N	probably benign	Het
Olfr1333	T	C	4: 118,830,026	N139S	probably benign	Het
Olfr1354	T	A	10: 78,916,924	I28N	probably damaging	Het
Olfr1469	T	C	19: 13,410,779	V70A	possibly damaging	Het
Olfr147	T	A	9: 38,402,886	M1K	probably null	Het
Olfr290	T	C	7: 84,916,279	S167P	probably benign	Het
Olfr353	A	T	2: 36,890,446	M134K	possibly damaging	Het
Otx1	G	T	11: 21,998,482	T46K	probably damaging	Het
Panx1	A	G	9: 15,007,526	C346R	probably benign	Het
Pcdhb16	T	A	18: 37,478,899	L304*	probably null	Het
Plet1	A	G	9: 50,504,352		probably null	Het
Plod2	A	G	9: 92,607,135	S707G	probably damaging	Het
Plscr4	G	A	9: 92,483,836	V120I	probably damaging	Het
Ppp1r12b	A	G	1: 134,892,270	V245A	probably damaging	Het
Ppp2r2d	A	G	7: 138,868,467	D19G	probably damaging	Het
Rimbp3	G	A	16: 17,210,427	V572I	probably benign	Het
Ror2	T	C	13: 53,131,849	I110V	probably damaging	Het
Sec24d	A	T	3: 123,353,394	H667L	probably benign	Het
Sema3d	A	G	5: 12,573,843	Q573R	probably damaging	Het
Snx19	T	A	9: 30,432,324	N593K	probably damaging	Het
Sulf1	T	C	1: 12,796,907	V105A	probably benign	Het
Syngr3	T	C	17: 24,687,706	N45S	probably benign	Het
Tenm4	A	T	7: 96,735,808	H524L	probably damaging	Het
Tex30	C	T	1: 44,091,404	G68D	probably damaging	Het
Tmem43	A	T	6: 91,486,909	I389F	probably benign	Het
Trpm1	A	T	7: 64,223,808	N488Y	probably damaging	Het
Usf2	T	C	7: 30,956,238	T1A	probably null	Het
Vill	A	T	9: 119,058,492	H108L	probably benign	Het
Vmn1r16	T	C	6: 57,322,900	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,088,645	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,245,378	E487K	probably damaging	Het
Zfp24	AC	A	18: 24,014,419		probably null	Het

Other mutations in Gm13119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Gm13119	APN	4	144362530	missense	possibly damaging	0.91
IGL00485:Gm13119	APN	4	144363442	missense	probably damaging	0.99
IGL01025:Gm13119	APN	4	144363377	missense	probably damaging	1.00
IGL01102:Gm13119	APN	4	144363625	missense	probably benign	0.08
IGL01631:Gm13119	APN	4	144362445	missense	probably benign	0.12
IGL02228:Gm13119	APN	4	144362661	missense	probably damaging	1.00
IGL02708:Gm13119	APN	4	144363413	missense	probably damaging	1.00
IGL02827:Gm13119	APN	4	144363761	missense	probably damaging	1.00
IGL03398:Gm13119	APN	4	144363491	missense	probably damaging	1.00
R0403:Gm13119	UTSW	4	144362646	missense	probably benign	0.00
R0627:Gm13119	UTSW	4	144362846	missense	probably benign	0.03
R0632:Gm13119	UTSW	4	144363782	missense	probably damaging	1.00
R1783:Gm13119	UTSW	4	144361725	missense	probably benign	0.01
R1895:Gm13119	UTSW	4	144361865	missense	probably benign	0.11
R2263:Gm13119	UTSW	4	144363541	missense	probably benign	0.00
R2389:Gm13119	UTSW	4	144363413	missense	probably damaging	1.00
R2435:Gm13119	UTSW	4	144362903	missense	possibly damaging	0.75
R3013:Gm13119	UTSW	4	144362455	missense	probably damaging	0.98
R3021:Gm13119	UTSW	4	144361799	missense	probably damaging	0.99
R3106:Gm13119	UTSW	4	144361676	missense	probably benign	0.04
R5237:Gm13119	UTSW	4	144362471	nonsense	probably null
R5411:Gm13119	UTSW	4	144361637	start codon destroyed	probably null	1.00
R5532:Gm13119	UTSW	4	144363491	missense	probably damaging	1.00
R6229:Gm13119	UTSW	4	144363629	missense	probably benign	0.03
R6277:Gm13119	UTSW	4	144363653	missense	probably damaging	1.00
R6625:Gm13119	UTSW	4	144363799	missense	probably damaging	1.00
R6717:Gm13119	UTSW	4	144362657	missense	probably benign	0.00
R7103:Gm13119	UTSW	4	144363727	missense	probably benign	0.00
R7207:Gm13119	UTSW	4	144361903	missense	probably benign	0.08
R8934:Gm13119	UTSW	4	144363775	missense	possibly damaging	0.54
R9325:Gm13119	UTSW	4	144362523	missense	probably benign
R9411:Gm13119	UTSW	4	144363427	missense	probably benign	0.00
Z1177:Gm13119	UTSW	4	144362973	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGAGCTTGGCAGTACAGAGC -3'
(R):5'- ACTGTCCAGGACACTGTAGC -3'

Sequencing Primer
(F):5'- CCTGGCGAAGAATGAAGCCTTG -3'
(R):5'- CAGGACACTGTAGCTCTTCAAGATG -3'

Posted On

2014-08-01