Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Gm14412'

602485

Institutional Source

Beutler Lab

Gene Symbol

Gm14412

Ensembl Gene

ENSMUSG00000078868

Gene Name

predicted gene 14412

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.639) question?

Stock #

RF001 (G1)

Quality Score

95.0077

Status

Not validated

Chromosome

Chromosomal Location

177314520-177324307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 177317101 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 52 (I52V)

Ref Sequence

ENSEMBL: ENSMUSP00000104587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108959]

AlphaFold

A2ARR7

Predicted Effect

probably benign
Transcript: ENSMUST00000108959
AA Change: I52V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868
AA Change: I52V

Domain	Start	End	E-Value	Type
KRAB	4	66	1.54e-15	SMART
ZnF_C2H2	103	125	1.12e-3	SMART
ZnF_C2H2	131	153	2.15e-5	SMART
ZnF_C2H2	159	181	5.59e-4	SMART
ZnF_C2H2	187	209	1.98e-4	SMART
ZnF_C2H2	215	237	1.12e-3	SMART
ZnF_C2H2	243	265	6.52e-5	SMART
ZnF_C2H2	271	293	1.12e-3	SMART
ZnF_C2H2	299	321	5.59e-4	SMART
ZnF_C2H2	327	349	4.87e-4	SMART
ZnF_C2H2	355	377	2.61e-4	SMART
ZnF_C2H2	383	405	9.08e-4	SMART
ZnF_C2H2	411	433	4.87e-4	SMART
ZnF_C2H2	439	461	6.88e-4	SMART
ZnF_C2H2	467	489	4.61e-5	SMART
ZnF_C2H2	495	517	8.02e-5	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,913,590 (GRCm38)		probably benign	Het
Acer1	A	G	17: 56,958,909 (GRCm38)	V122A	probably benign	Het
Adam34l	T	G	8: 43,626,905 (GRCm38)	D94A	possibly damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,921 (GRCm38)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,643,571 (GRCm38)		probably benign	Het
Atp13a1	C	A	8: 69,800,070 (GRCm38)	A680D	probably damaging	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,512,927 (GRCm38)		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,512,906 (GRCm38)		probably benign	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,512,903 (GRCm38)		probably benign	Het
Cad	GT	G	5: 31,060,212 (GRCm38)		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,141,276 (GRCm38)		probably benign	Het
Casz1	CACA	C	4: 148,952,304 (GRCm38)		probably benign	Het
Cherp	GACCTGGA	G	8: 72,462,049 (GRCm38)		probably null	Het
Chga	AGC	AGCTGC	12: 102,561,423 (GRCm38)		probably benign	Het
Coq7	A	G	7: 118,533,182 (GRCm38)	S24P	probably benign	Het
Cul1	T	C	6: 47,524,581 (GRCm38)	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 87,040,416 (GRCm38)		probably benign	Het
Dgkz	A	T	2: 91,939,941 (GRCm38)	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,812,886 (GRCm38)		probably benign	Het
Fat1	T	G	8: 44,988,966 (GRCm38)	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 75,000,018 (GRCm38)		probably benign	Het
Gm5414	T	C	15: 101,627,953 (GRCm38)	E79G	probably benign	Het
Gpc5	G	A	14: 115,417,178 (GRCm38)	S470N	probably benign	Het
Grin2b	A	G	6: 136,044,240 (GRCm38)	V21A	probably benign	Het
Hecw1	C	A	13: 14,297,424 (GRCm38)	C553F	probably damaging	Het
Hsd3b6	T	A	3: 98,806,440 (GRCm38)	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,125,762 (GRCm38)		probably benign	Het
Inpp5f	G	A	7: 128,695,083 (GRCm38)	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,311,697 (GRCm38)	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,110,432 (GRCm38)	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,586,382 (GRCm38)		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,315,775 (GRCm38)		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,042,255 (GRCm38)		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,042,280 (GRCm38)		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,042,282 (GRCm38)		probably benign	Het
Lama1	A	G	17: 67,752,902 (GRCm38)	D662G		Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 93,018,269 (GRCm38)		probably benign	Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 93,018,152 (GRCm38)		probably benign	Het
Lmo4	A	C	3: 144,201,862 (GRCm38)	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,736,633 (GRCm38)	I952T	probably benign	Het
Lyst	T	C	13: 13,635,841 (GRCm38)	F699L	probably benign	Het
Matn3	T	A	12: 8,958,797 (GRCm38)	D303E	probably benign	Het
Me1	A	G	9: 86,582,823 (GRCm38)	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,300,299 (GRCm38)	V68E	probably benign	Het
Mptx2	T	C	1: 173,274,969 (GRCm38)	N51S	probably benign	Het
Mylk	A	G	16: 34,879,371 (GRCm38)	D368G	probably benign	Het
Myom2	T	C	8: 15,081,418 (GRCm38)	V372A	possibly damaging	Het
Neb	T	C	2: 52,195,421 (GRCm38)	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,030 (GRCm38)		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,110,235 (GRCm38)		probably benign	Het
Pop1	G	A	15: 34,502,437 (GRCm38)	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 156,096,075 (GRCm38)		probably benign	Het
Sertad4	T	C	1: 192,847,178 (GRCm38)	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,785,314 (GRCm38)		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,630,986 (GRCm38)		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,631,021 (GRCm38)		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,727,662 (GRCm38)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,835,739 (GRCm38)		probably benign	Het
Tecpr1	A	G	5: 144,217,386 (GRCm38)	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,967,027 (GRCm38)		probably benign	Het
Vmn1r48	A	T	6: 90,036,204 (GRCm38)	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,429,687 (GRCm38)		probably benign	Het
Zscan29	T	C	2: 121,163,996 (GRCm38)	N503D	possibly damaging	Het

Other mutations in Gm14412

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm14412	APN	2	177,315,686 (GRCm38)	missense	probably benign
R0124:Gm14412	UTSW	2	177,315,912 (GRCm38)	splice site	probably benign
R0507:Gm14412	UTSW	2	177,314,532 (GRCm38)	missense	possibly damaging	0.46
R1833:Gm14412	UTSW	2	177,315,790 (GRCm38)	missense	probably benign	0.00
R1908:Gm14412	UTSW	2	177,315,837 (GRCm38)	missense	probably benign	0.03
R1908:Gm14412	UTSW	2	177,315,476 (GRCm38)	missense	probably damaging	1.00
R2026:Gm14412	UTSW	2	177,317,105 (GRCm38)	missense	possibly damaging	0.92
R2209:Gm14412	UTSW	2	177,317,436 (GRCm38)	missense	probably damaging	1.00
R2656:Gm14412	UTSW	2	177,315,200 (GRCm38)	missense	unknown
R3946:Gm14412	UTSW	2	177,314,685 (GRCm38)	nonsense	probably null
R4430:Gm14412	UTSW	2	177,315,832 (GRCm38)	missense	probably benign	0.09
R4537:Gm14412	UTSW	2	177,314,559 (GRCm38)	missense	probably benign	0.06
R4595:Gm14412	UTSW	2	177,315,212 (GRCm38)	missense	unknown
R4928:Gm14412	UTSW	2	177,314,580 (GRCm38)	missense	probably benign	0.01
R5100:Gm14412	UTSW	2	177,315,115 (GRCm38)	missense	probably damaging	0.99
R5434:Gm14412	UTSW	2	177,314,612 (GRCm38)	missense	probably damaging	1.00
R5668:Gm14412	UTSW	2	177,315,609 (GRCm38)	nonsense	probably null
R6173:Gm14412	UTSW	2	177,314,537 (GRCm38)	missense	probably damaging	1.00
R6558:Gm14412	UTSW	2	177,314,554 (GRCm38)	missense	probably damaging	0.99
R6784:Gm14412	UTSW	2	177,317,340 (GRCm38)	missense	probably benign	0.10
R7094:Gm14412	UTSW	2	177,317,345 (GRCm38)	missense	probably damaging	1.00
R7182:Gm14412	UTSW	2	177,315,615 (GRCm38)	missense	probably benign	0.44
R7254:Gm14412	UTSW	2	177,317,396 (GRCm38)	missense	probably damaging	0.97
R7793:Gm14412	UTSW	2	177,315,867 (GRCm38)	missense	possibly damaging	0.78
R7799:Gm14412	UTSW	2	177,315,797 (GRCm38)	missense	probably benign	0.01
R8238:Gm14412	UTSW	2	177,315,318 (GRCm38)	missense	unknown
R9098:Gm14412	UTSW	2	177,314,563 (GRCm38)	missense	probably damaging	1.00
R9304:Gm14412	UTSW	2	177,315,754 (GRCm38)	missense	probably benign
R9699:Gm14412	UTSW	2	177,315,843 (GRCm38)	nonsense	probably null
RF007:Gm14412	UTSW	2	177,315,701 (GRCm38)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- CACACTTGTACAGCATAGCTCT -3'
(R):5'- TCCTTCTCAGAAGAGTCTCTACAAAG -3'

Sequencing Primer
(F):5'- CACTTGTACAGCATAGCTCTACTAGG -3'
(R):5'- GAGTCTCTACAAAGATGTGATGC -3'

Posted On

2019-12-04