Mutagenetix > Incidental Mutation

Incidental Mutation 'R6795:Gm19410'

532972

Institutional Source

Beutler Lab

Gene Symbol

Gm19410

Ensembl Gene

ENSMUSG00000109372

Gene Name

predicted gene, 19410

Synonyms

MMRRC Submission

044908-MU

Accession Numbers

Essential gene?

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

Stock #

R6795 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36232944-36285201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36262676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 871 (C871Y)

Ref Sequence

ENSEMBL: ENSMUSP00000147162 (fasta)

Gene Model

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

AlphaFold

A0A140LJC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000207505
AA Change: C871Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	A	4: 73,869,065 (GRCm39)		probably benign	Het
A2m	T	A	6: 121,625,281 (GRCm39)		probably null	Het
Aadacl2fm3	A	T	3: 59,776,357 (GRCm39)	Y176F	probably damaging	Het
Agps	A	G	2: 75,724,402 (GRCm39)	D472G	probably damaging	Het
Amfr	A	G	8: 94,726,961 (GRCm39)	V158A	probably benign	Het
Birc2	A	G	9: 7,833,873 (GRCm39)	Y203H	possibly damaging	Het
Calr4	A	G	4: 109,101,985 (GRCm39)	N147D	probably damaging	Het
Cd8b1	T	A	6: 71,303,324 (GRCm39)	L133Q	probably damaging	Het
Cenpn	T	A	8: 117,652,887 (GRCm39)	S19R	probably benign	Het
Ces2g	A	G	8: 105,694,449 (GRCm39)	N494S	probably damaging	Het
Ces3a	G	A	8: 105,777,228 (GRCm39)	G184R	possibly damaging	Het
Dlgap1	C	A	17: 71,125,069 (GRCm39)	A614E	possibly damaging	Het
Dpy19l1	C	A	9: 24,414,158 (GRCm39)	R90L	possibly damaging	Het
Ephb2	A	C	4: 136,400,646 (GRCm39)	L544R	possibly damaging	Het
Fanca	T	A	8: 124,045,232 (GRCm39)	T21S	probably benign	Het
Fsip2	A	T	2: 82,811,303 (GRCm39)	M2541L	probably benign	Het
Galnt2	T	C	8: 125,070,175 (GRCm39)	F530S	probably damaging	Het
Gmds	C	T	13: 32,418,335 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,841,270 (GRCm39)	V620A	possibly damaging	Het
Myo18b	T	C	5: 112,994,230 (GRCm39)	T908A	probably damaging	Het
Or5d18	C	T	2: 87,864,668 (GRCm39)	V272I	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Pcf11	A	C	7: 92,306,786 (GRCm39)	N1127K	probably benign	Het
Plec	T	C	15: 76,064,338 (GRCm39)	K1979E	probably damaging	Het
Prpf38b	T	C	3: 108,811,980 (GRCm39)		probably benign	Het
Sema5b	T	A	16: 35,478,941 (GRCm39)	C588*	probably null	Het
Skint5	C	T	4: 113,524,420 (GRCm39)	E854K	unknown	Het
Slc25a42	A	G	8: 70,641,040 (GRCm39)	Y187H	probably damaging	Het
Slc30a5	A	T	13: 100,953,577 (GRCm39)	D182E	probably damaging	Het
Synrg	A	G	11: 83,910,740 (GRCm39)	I1047V	probably damaging	Het
Tbc1d31	A	G	15: 57,815,102 (GRCm39)	D593G	probably damaging	Het
Thnsl1	C	T	2: 21,218,303 (GRCm39)	Q165*	probably null	Het
Ttc6	T	C	12: 57,751,199 (GRCm39)	F1364L	probably damaging	Het
Ttf2	G	A	3: 100,866,578 (GRCm39)	A518V	probably damaging	Het
Vmn1r6	A	G	6: 56,979,422 (GRCm39)	Y28C	possibly damaging	Het
Zzef1	A	G	11: 72,741,485 (GRCm39)	E709G	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
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
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'- TAGAGCCATGCGGATGTTC -3'
(R):5'- CTTGTCCAGAGGAAGTTGGG -3'

Sequencing Primer
(F):5'- CGGATGTTCTGCGTTGACATG -3'
(R):5'- TCCTATCATGGGCCTGAAGATGAC -3'

Posted On

2018-08-29