Mutagenetix > Incidental Mutation

Incidental Mutation 'R8228:Gm19410'

637055

Institutional Source

Beutler Lab

Gene Symbol

Gm19410

Ensembl Gene

ENSMUSG00000109372

Gene Name

predicted gene, 19410

Synonyms

MMRRC Submission

067661-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R8228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36232944-36285201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36252992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 646 (K646E)

Ref Sequence

ENSEMBL: ENSMUSP00000147162 (fasta)

Gene Model

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

AlphaFold

A0A140LJC7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207505
AA Change: K646E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	C	6: 72,324,500 (GRCm39)		probably null	Het
1700008O03Rik	A	G	7: 44,009,729 (GRCm39)	Y158H	probably benign	Het
4930438A08Rik	T	A	11: 58,182,381 (GRCm39)	I252N		Het
A930011G23Rik	G	A	5: 99,524,980 (GRCm39)	P60S	probably damaging	Het
Abcf1	A	G	17: 36,271,933 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,026,260 (GRCm39)	T14A	probably damaging	Het
Alox12b	T	C	11: 69,054,755 (GRCm39)	Y253H	probably damaging	Het
Anapc1	T	A	2: 128,461,837 (GRCm39)	K1756*	probably null	Het
Arid5b	T	A	10: 68,114,536 (GRCm39)	E2V	possibly damaging	Het
Atp13a1	G	A	8: 70,251,569 (GRCm39)	V545M	probably damaging	Het
Atp2b4	TTCTTC	TTCTTCCTCTTC	1: 133,629,459 (GRCm39)		probably benign	Het
Cert1	A	G	13: 96,679,723 (GRCm39)	T18A	probably benign	Het
Cfap119	G	A	7: 127,184,179 (GRCm39)	T239M	probably benign	Het
Col1a1	T	G	11: 94,836,426 (GRCm39)		probably null	Het
Csdc2	C	T	15: 81,833,411 (GRCm39)	T136I	possibly damaging	Het
Dpp9	A	T	17: 56,498,129 (GRCm39)	I609N	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Gjb6	T	C	14: 57,361,926 (GRCm39)	R112G	probably benign	Het
Grik5	T	C	7: 24,709,933 (GRCm39)	E934G	probably damaging	Het
Grik5	A	T	7: 24,745,735 (GRCm39)	F446Y	possibly damaging	Het
Iffo2	C	G	4: 139,302,483 (GRCm39)	N75K	probably damaging	Het
Kif15	A	G	9: 122,821,041 (GRCm39)	N649D	possibly damaging	Het
Lrit2	G	A	14: 36,791,148 (GRCm39)	A276T	probably damaging	Het
Mcm8	T	C	2: 132,684,714 (GRCm39)		probably null	Het
Mmut	A	G	17: 41,248,219 (GRCm39)	E82G	possibly damaging	Het
Or4n4	A	G	14: 50,518,997 (GRCm39)	S238P	probably damaging	Het
Or5w8	T	A	2: 87,688,284 (GRCm39)	M255K	probably benign	Het
Pcdhga8	A	G	18: 37,861,236 (GRCm39)	Q764R	probably benign	Het
Pcgf2	T	C	11: 97,582,865 (GRCm39)	Y138C	probably benign	Het
Phf20l1	G	T	15: 66,511,789 (GRCm39)	V922F	possibly damaging	Het
Pkd1l2	A	T	8: 117,792,514 (GRCm39)	I426N	probably damaging	Het
Psmd6	T	C	14: 14,116,843 (GRCm38)	N160S	possibly damaging	Het
Robo1	A	G	16: 72,809,768 (GRCm39)	D1172G	probably benign	Het
Sdr9c7	T	C	10: 127,734,544 (GRCm39)	Y11H	possibly damaging	Het
Sec24c	G	T	14: 20,739,975 (GRCm39)	A635S	probably benign	Het
Tex2	T	C	11: 106,457,997 (GRCm39)	I478V	probably benign	Het
Traip	T	C	9: 107,838,265 (GRCm39)	M166T	probably benign	Het
Trdn	T	C	10: 33,033,014 (GRCm39)	S80P	probably damaging	Het
Trim46	G	T	3: 89,142,255 (GRCm39)	T744N	probably benign	Het
Tsc1	C	A	2: 28,566,141 (GRCm39)	A520D	probably benign	Het
Usp36	T	C	11: 118,155,716 (GRCm39)	E852G	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Zc3h7a	A	G	16: 10,956,954 (GRCm39)	F885S	probably damaging	Het
Zfp335	G	A	2: 164,746,818 (GRCm39)	R354W	probably damaging	Het
Zfp456	C	A	13: 67,514,533 (GRCm39)	C391F	probably 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
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
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'- ATGGCTACTCAACGTGGGAATC -3'
(R):5'- CACATCTAGTCTTTGGCATGAAGG -3'

Sequencing Primer
(F):5'- GCTACTCAACGTGGGAATCATCTG -3'
(R):5'- GGCATGAAGGTATTTTCAGATTAGG -3'

Posted On

2020-07-13