Mutagenetix > Incidental Mutation

Incidental Mutation 'R8382:Gm19410'

646982

Institutional Source

Beutler Lab

Gene Symbol

Gm19410

Ensembl Gene

ENSMUSG00000109372

Gene Name

predicted gene, 19410

Synonyms

MMRRC Submission

067896-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R8382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36232944-36285201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36276302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1653 (V1653D)

Ref Sequence

ENSEMBL: ENSMUSP00000147162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207505]

AlphaFold

A0A140LJC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000207505
AA Change: V1653D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

94% (33/35)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,537,645 (GRCm39)	R689G	probably benign	Het
Anapc4	T	A	5: 53,016,277 (GRCm39)		probably null	Het
Atg9a	G	A	1: 75,162,342 (GRCm39)	Q523*	probably null	Het
Cacna1i	G	A	15: 80,261,017 (GRCm39)	V1342M	probably damaging	Het
Cblif	A	T	19: 11,727,090 (GRCm39)	T100S	probably benign	Het
Ccdc87	A	G	19: 4,890,018 (GRCm39)	D170G	possibly damaging	Het
Cpsf1	A	G	15: 76,485,151 (GRCm39)	V541A	probably benign	Het
Depdc5	C	T	5: 33,085,242 (GRCm39)	T687M	probably benign	Het
Ear6	T	C	14: 52,091,570 (GRCm39)	I39T	probably damaging	Het
Fcgbp	C	T	7: 27,816,762 (GRCm39)	A2408V	probably benign	Het
Frmd4b	G	A	6: 97,282,209 (GRCm39)	T539I	probably benign	Het
Jade1	A	G	3: 41,519,369 (GRCm39)		probably null	Het
Kncn	A	G	4: 115,743,947 (GRCm39)	N75S	probably benign	Het
Lig4	C	T	8: 10,022,346 (GRCm39)	G478D	probably damaging	Het
Med24	G	A	11: 98,608,537 (GRCm39)	T205I	unknown	Het
Meiob	A	G	17: 25,046,913 (GRCm39)	E179G	possibly damaging	Het
Nalf1	T	C	8: 9,257,972 (GRCm39)	E392G	probably benign	Het
Or10d5	A	G	9: 39,861,455 (GRCm39)	V204A	probably benign	Het
Or4a27	A	T	2: 88,559,857 (GRCm39)	F29I	probably damaging	Het
Or8b44	A	T	9: 38,410,588 (GRCm39)	I208F	probably damaging	Het
Pcdh15	T	C	10: 74,479,227 (GRCm39)	V708A	probably benign	Het
Pclo	T	A	5: 14,727,080 (GRCm39)	D1979E	unknown	Het
Plxnd1	A	T	6: 115,949,433 (GRCm39)	H784Q	probably benign	Het
Prim1	A	T	10: 127,856,138 (GRCm39)		probably null	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Slc7a5	A	T	8: 122,612,691 (GRCm39)	I371N	probably damaging	Het
Sp140l2	G	A	1: 85,224,671 (GRCm39)	S288L	possibly damaging	Het
Spata31e3	T	C	13: 50,401,474 (GRCm39)	K284R	possibly damaging	Het
Taf1c	G	T	8: 120,329,789 (GRCm39)	D117E	probably damaging	Het
Tekt5	T	C	16: 10,212,928 (GRCm39)	D119G	probably benign	Het
Top3b	T	C	16: 16,705,867 (GRCm39)	I508T	probably damaging	Het
Uba6	A	G	5: 86,279,196 (GRCm39)	I673T	probably benign	Het
Vmn2r17	G	T	5: 109,576,387 (GRCm39)	M419I	probably benign	Het
Zfr	C	T	15: 12,153,054 (GRCm39)	Q562*	probably null	Het
Zfyve16	A	T	13: 92,650,328 (GRCm39)	D885E	probably benign	Het

Other mutations in Gm19410

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB009:Gm19410	UTSW	8	36,262,753 (GRCm39)	missense	probably damaging	0.98
BB019:Gm19410	UTSW	8	36,262,753 (GRCm39)	missense	probably damaging	0.98
R0046:Gm19410	UTSW	8	36,269,799 (GRCm39)	missense	probably benign	0.31
R6026:Gm19410	UTSW	8	36,279,580 (GRCm39)	missense	probably benign	0.03
R6039:Gm19410	UTSW	8	36,276,518 (GRCm39)	missense	probably benign	0.44
R6039:Gm19410	UTSW	8	36,276,518 (GRCm39)	missense	probably benign	0.44
R6185:Gm19410	UTSW	8	36,274,664 (GRCm39)	missense	possibly damaging	0.87
R6239:Gm19410	UTSW	8	36,245,918 (GRCm39)	missense	probably damaging	0.98
R6303:Gm19410	UTSW	8	36,274,714 (GRCm39)	missense	possibly damaging	0.96
R6377:Gm19410	UTSW	8	36,270,736 (GRCm39)	nonsense	probably null
R6545:Gm19410	UTSW	8	36,257,652 (GRCm39)	missense	possibly damaging	0.93
R6700:Gm19410	UTSW	8	36,274,664 (GRCm39)	missense	possibly damaging	0.87
R6720:Gm19410	UTSW	8	36,274,730 (GRCm39)	missense	probably benign	0.12
R6795:Gm19410	UTSW	8	36,262,676 (GRCm39)	missense	probably damaging	0.98
R6808:Gm19410	UTSW	8	36,239,733 (GRCm39)	missense	probably damaging	0.99
R6810:Gm19410	UTSW	8	36,239,733 (GRCm39)	missense	probably damaging	0.99
R6811:Gm19410	UTSW	8	36,239,733 (GRCm39)	missense	probably damaging	0.99
R6966:Gm19410	UTSW	8	36,285,127 (GRCm39)	missense	possibly damaging	0.84
R7264:Gm19410	UTSW	8	36,252,920 (GRCm39)	missense	probably benign	0.01
R7267:Gm19410	UTSW	8	36,281,997 (GRCm39)	missense	possibly damaging	0.80
R7355:Gm19410	UTSW	8	36,274,226 (GRCm39)	missense	probably benign	0.00
R7423:Gm19410	UTSW	8	36,271,761 (GRCm39)	missense	probably benign	0.28
R7494:Gm19410	UTSW	8	36,262,684 (GRCm39)	missense	probably damaging	0.99
R7516:Gm19410	UTSW	8	36,263,433 (GRCm39)	missense	probably benign	0.30
R7517:Gm19410	UTSW	8	36,240,772 (GRCm39)	missense	possibly damaging	0.45
R7526:Gm19410	UTSW	8	36,257,766 (GRCm39)	missense	probably damaging	0.98
R7527:Gm19410	UTSW	8	36,269,386 (GRCm39)	missense	probably damaging	0.99
R7545:Gm19410	UTSW	8	36,269,779 (GRCm39)	missense	probably damaging	0.99
R7549:Gm19410	UTSW	8	36,266,500 (GRCm39)	missense	probably benign	0.20
R7564:Gm19410	UTSW	8	36,274,151 (GRCm39)	missense	probably benign	0.00
R7615:Gm19410	UTSW	8	36,263,513 (GRCm39)	missense	probably damaging	1.00
R7622:Gm19410	UTSW	8	36,277,501 (GRCm39)	missense	possibly damaging	0.91
R7655:Gm19410	UTSW	8	36,276,253 (GRCm39)	missense	probably benign
R7656:Gm19410	UTSW	8	36,276,253 (GRCm39)	missense	probably benign
R7703:Gm19410	UTSW	8	36,266,539 (GRCm39)	missense	probably damaging	0.98
R7750:Gm19410	UTSW	8	36,274,652 (GRCm39)	missense	possibly damaging	0.68
R7760:Gm19410	UTSW	8	36,269,491 (GRCm39)	missense	probably damaging	0.99
R7837:Gm19410	UTSW	8	36,276,134 (GRCm39)	missense	possibly damaging	0.91
R7932:Gm19410	UTSW	8	36,262,753 (GRCm39)	missense	probably damaging	0.98
R7942:Gm19410	UTSW	8	36,238,940 (GRCm39)	missense	probably damaging	0.98
R7970:Gm19410	UTSW	8	36,282,801 (GRCm39)	missense	probably benign	0.00
R8088:Gm19410	UTSW	8	36,273,995 (GRCm39)	missense	probably benign	0.45
R8228:Gm19410	UTSW	8	36,252,992 (GRCm39)	missense	possibly damaging	0.53
R8757:Gm19410	UTSW	8	36,276,119 (GRCm39)	missense	possibly damaging	0.83
R8879:Gm19410	UTSW	8	36,239,022 (GRCm39)	missense	probably damaging	0.99
R9010:Gm19410	UTSW	8	36,282,011 (GRCm39)	missense	probably benign	0.02
R9060:Gm19410	UTSW	8	36,269,480 (GRCm39)	missense	probably damaging	1.00
R9088:Gm19410	UTSW	8	36,240,766 (GRCm39)	missense	probably damaging	1.00
R9104:Gm19410	UTSW	8	36,247,621 (GRCm39)	missense	probably damaging	0.99
R9186:Gm19410	UTSW	8	36,282,629 (GRCm39)	missense	possibly damaging	0.90
R9290:Gm19410	UTSW	8	36,269,386 (GRCm39)	missense	probably damaging	0.99
R9334:Gm19410	UTSW	8	36,270,722 (GRCm39)	nonsense	probably null
R9398:Gm19410	UTSW	8	36,272,356 (GRCm39)	missense	probably benign	0.00
R9439:Gm19410	UTSW	8	36,248,810 (GRCm39)	missense	probably damaging	0.96
R9445:Gm19410	UTSW	8	36,239,652 (GRCm39)	missense	possibly damaging	0.75
R9511:Gm19410	UTSW	8	36,257,848 (GRCm39)	missense	probably damaging	0.99
R9520:Gm19410	UTSW	8	36,262,637 (GRCm39)	missense	probably benign	0.15
R9523:Gm19410	UTSW	8	36,257,608 (GRCm39)	missense	probably benign	0.01
R9669:Gm19410	UTSW	8	36,247,493 (GRCm39)	missense	possibly damaging	0.45
R9711:Gm19410	UTSW	8	36,279,493 (GRCm39)	missense	possibly damaging	0.85
R9728:Gm19410	UTSW	8	36,247,594 (GRCm39)	missense	possibly damaging	0.95
R9759:Gm19410	UTSW	8	36,252,938 (GRCm39)	missense	possibly damaging	0.53
Z1176:Gm19410	UTSW	8	36,259,765 (GRCm39)	missense	possibly damaging	0.79
Z1177:Gm19410	UTSW	8	36,276,119 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CTCTACCTGTCAGAGCTCAAC -3'
(R):5'- CTGAATCCGAAAAGGCCAGG -3'

Sequencing Primer
(F):5'- TGTCAGAGCTCAACACCAGTG -3'
(R):5'- GGGACTGCAGCCATAGTACTTTTC -3'

Posted On

2020-09-02