Mutagenetix > Incidental Mutation

Incidental Mutation 'R6808:Gm19410'

533655

Institutional Source

Beutler Lab

Gene Symbol

Gm19410

Ensembl Gene

ENSMUSG00000109372

Gene Name

predicted gene, 19410

Synonyms

MMRRC Submission

044921-MU

Accession Numbers

Essential gene?

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

Stock #

R6808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36232944-36285201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36239733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 143 (A143E)

Ref Sequence

ENSEMBL: ENSMUSP00000147162 (fasta)

Gene Model

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

AlphaFold

A0A140LJC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000207505
AA Change: A143E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,098 (GRCm39)	I53F	probably damaging	Het
Apol7b	T	A	15: 77,308,873 (GRCm39)	D75V	probably damaging	Het
Brd8	C	T	18: 34,741,528 (GRCm39)	A387T	probably damaging	Het
Cacybp	T	C	1: 160,036,169 (GRCm39)		probably null	Het
Calcoco1	T	C	15: 102,618,875 (GRCm39)	K444E	probably damaging	Het
Cers2	G	A	3: 95,228,320 (GRCm39)	R120H	probably benign	Het
Chd4	T	A	6: 125,099,086 (GRCm39)	C1587S	possibly damaging	Het
Col11a1	A	T	3: 113,888,593 (GRCm39)	K286N	possibly damaging	Het
Creld2	A	G	15: 88,709,413 (GRCm39)	N308S	probably damaging	Het
Cyp2d12	T	C	15: 82,440,934 (GRCm39)	S151P	probably damaging	Het
Dlec1	A	G	9: 118,955,242 (GRCm39)	H642R	probably benign	Het
Eif6	T	C	2: 155,665,206 (GRCm39)	Y151C	probably damaging	Het
Erbb4	A	T	1: 68,079,462 (GRCm39)	M1206K	probably benign	Het
Fam178b	G	A	1: 36,639,216 (GRCm39)	T361M	probably damaging	Het
Fbxo10	A	G	4: 45,059,035 (GRCm39)	F234S	probably benign	Het
Gcc2	A	T	10: 58,094,064 (GRCm39)	E13D	probably damaging	Het
Gtf3c5	T	C	2: 28,460,499 (GRCm39)	K367E	probably damaging	Het
Ifi204	T	C	1: 173,589,269 (GRCm39)	E54G	probably benign	Het
Kalrn	A	T	16: 33,848,346 (GRCm39)	I492N	probably damaging	Het
Kifbp	T	C	10: 62,410,923 (GRCm39)	N140S	possibly damaging	Het
Map2k5	A	G	9: 63,229,528 (GRCm39)	Y168H	probably benign	Het
Mbip	A	C	12: 56,384,383 (GRCm39)		probably null	Het
Mcmdc2	C	T	1: 10,004,242 (GRCm39)	T574I	probably damaging	Het
Or10a3b	T	C	7: 108,444,747 (GRCm39)	T157A	probably benign	Het
Or52j3	T	G	7: 102,836,511 (GRCm39)	D234E	probably benign	Het
Or5w22	A	T	2: 87,363,285 (GRCm39)	M303L	probably benign	Het
Or8d2	T	A	9: 38,760,085 (GRCm39)	I225N	probably damaging	Het
Or8g33	T	C	9: 39,337,836 (GRCm39)	Y177C	probably damaging	Het
Or9s27	A	T	1: 92,516,768 (GRCm39)	R239W	probably damaging	Het
Pdzd8	A	G	19: 59,287,957 (GRCm39)	*1148Q	probably null	Het
Phactr1	T	A	13: 43,286,445 (GRCm39)	I582N	probably damaging	Het
Phf20l1	T	G	15: 66,502,762 (GRCm39)	L714R	probably damaging	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rcor3	T	C	1: 191,822,179 (GRCm39)	E6G	possibly damaging	Het
Skic3	T	C	13: 76,333,298 (GRCm39)	S1516P	probably damaging	Het
Sptlc2	G	A	12: 87,397,069 (GRCm39)	T239I	possibly damaging	Het
Tmc1	A	T	19: 20,772,880 (GRCm39)	V707D	probably damaging	Het
Tmem63b	T	A	17: 45,971,734 (GRCm39)	E827V	probably benign	Het
Triml1	A	G	8: 43,594,258 (GRCm39)	S58P	probably damaging	Het
Zdbf2	A	G	1: 63,347,687 (GRCm39)	H2022R	possibly damaging	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
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
R8382:Gm19410	UTSW	8	36,276,302 (GRCm39)	missense	probably damaging	0.99
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'- TTCTGAAATCGGCCGAGTCC -3'
(R):5'- AGCAGCCTGTGTACTATACCC -3'

Sequencing Primer
(F):5'- TAGCACTCATTTAGATACCCAGG -3'
(R):5'- CCTGCCCTTGAAATGTCAGTAGG -3'

Posted On

2018-09-12