Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Gm14412'

568550

Institutional Source

Beutler Lab

Gene Symbol

Gm14412

Ensembl Gene

ENSMUSG00000078868

Gene Name

predicted gene 14412

Synonyms

MMRRC Submission

045234-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.639) question?

Stock #

R7182 (G1)

Quality Score

59.0073

Status

Validated

Chromosome

Chromosomal Location

177314520-177324307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 177315615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 162 (N162K)

Ref Sequence

ENSEMBL: ENSMUSP00000104587 (fasta)

Gene Model

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

AlphaFold

A2ARR7

Predicted Effect

probably benign
Transcript: ENSMUST00000108959
AA Change: N162K

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868
AA Change: N162K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,714 (GRCm38)	V323A	unknown	Het
AC117241.1	A	G	17: 7,352,688 (GRCm38)	V158A	unknown	Het
Acadm	A	G	3: 153,941,881 (GRCm38)		probably null	Het
Adcy10	T	G	1: 165,543,470 (GRCm38)		probably null	Het
Aldh6a1	C	T	12: 84,441,831 (GRCm38)	A94T	probably benign	Het
Ano2	T	A	6: 125,790,293 (GRCm38)	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,377,655 (GRCm38)	R1828H	probably damaging	Het
Ccdc33	A	T	9: 58,034,173 (GRCm38)		probably null	Het
Cep112	A	C	11: 108,682,844 (GRCm38)	D6A	probably benign	Het
Chd9	T	C	8: 91,006,622 (GRCm38)	F1373S	unknown	Het
Cog5	T	C	12: 31,685,708 (GRCm38)	L158P	probably damaging	Het
Col6a3	G	A	1: 90,803,678 (GRCm38)	Q1618*	probably null	Het
Dlg5	A	G	14: 24,244,856 (GRCm38)	V3A		Het
Dnah7a	T	A	1: 53,620,461 (GRCm38)		probably null	Het
Dpp10	A	T	1: 123,341,151 (GRCm38)	H716Q	probably benign	Het
Epor	A	G	9: 21,963,329 (GRCm38)	F35L	probably benign	Het
Ergic1	A	T	17: 26,654,882 (GRCm38)	Y92F		Het
Fam71a	C	T	1: 191,163,351 (GRCm38)	R365H	probably damaging	Het
Fam98a	G	A	17: 75,539,018 (GRCm38)	Q273*	probably null	Het
Fhdc1	G	A	3: 84,448,850 (GRCm38)	T429I	probably damaging	Het
Fmnl2	T	A	2: 53,107,441 (GRCm38)	L468Q	unknown	Het
Fmnl3	C	T	15: 99,321,782 (GRCm38)	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,920,506 (GRCm38)	M271V	probably damaging	Het
Gk5	G	T	9: 96,119,526 (GRCm38)	V26L	possibly damaging	Het
Gm3604	T	C	13: 62,371,875 (GRCm38)	D22G	probably damaging	Het
Gm5565	G	T	5: 146,158,055 (GRCm38)	H294N	probably benign	Het
Hsf2	T	A	10: 57,505,176 (GRCm38)	D287E	possibly damaging	Het
Impdh2	G	A	9: 108,563,208 (GRCm38)	R231H	possibly damaging	Het
Irak3	T	C	10: 120,166,511 (GRCm38)	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,741,458 (GRCm38)		probably null	Het
Lrch3	T	A	16: 32,993,779 (GRCm38)	D551E	probably benign	Het
Manba	A	T	3: 135,567,513 (GRCm38)	N736I	probably benign	Het
Map2	A	G	1: 66,412,653 (GRCm38)	D234G	possibly damaging	Het
Mdk	C	A	2: 91,930,852 (GRCm38)	K121N	unknown	Het
Mfn1	T	A	3: 32,564,220 (GRCm38)	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,866,157 (GRCm38)		probably null	Het
Mnat1	G	T	12: 73,230,678 (GRCm38)	E233*	probably null	Het
Mtmr4	T	C	11: 87,604,605 (GRCm38)		probably null	Het
Mtrf1	A	G	14: 79,423,464 (GRCm38)	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,842,645 (GRCm38)	R165C	unknown	Het
Naip6	T	A	13: 100,316,149 (GRCm38)	I135F	probably benign	Het
Nod2	A	G	8: 88,663,832 (GRCm38)	T256A	probably benign	Het
Notch4	T	A	17: 34,583,499 (GRCm38)	V1298E	probably damaging	Het
Nudc	G	T	4: 133,534,465 (GRCm38)	D169E	possibly damaging	Het
Obscn	A	T	11: 59,035,101 (GRCm38)	I5602N	probably damaging	Het
Olfr1468-ps1	G	A	19: 13,375,844 (GRCm38)	G294E	unknown	Het
Osbpl10	G	A	9: 115,067,251 (GRCm38)	D18N	probably damaging	Het
Pigk	G	A	3: 152,722,551 (GRCm38)	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,437,170 (GRCm38)	E26K	probably damaging	Het
Prpf8	A	G	11: 75,490,727 (GRCm38)	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,224,763 (GRCm38)	D159G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990 (GRCm38)	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,759,757 (GRCm38)	H1171R	probably benign	Het
Scn4a	T	A	11: 106,330,308 (GRCm38)	I842F	probably benign	Het
Scnm1	A	T	3: 95,133,854 (GRCm38)	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,524,361 (GRCm38)	I137N	probably benign	Het
Slc30a3	A	C	5: 31,089,670 (GRCm38)	M103R	probably damaging	Het
Slc30a3	T	C	5: 31,086,825 (GRCm38)	Q371R	probably benign	Het
Slco1a1	A	T	6: 141,911,839 (GRCm38)	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,656,930 (GRCm38)	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,998,523 (GRCm38)	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991 (GRCm38)	S3552T	probably benign	Het
Tmem62	A	G	2: 121,004,743 (GRCm38)	I516M	probably benign	Het
Trim61	A	T	8: 65,013,614 (GRCm38)	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520 (GRCm38)	T227P	probably benign	Het
Trpc3	T	C	3: 36,655,109 (GRCm38)	Q406R	probably benign	Het
Ttc30b	A	T	2: 75,937,949 (GRCm38)	Y153*	probably null	Het
Ush2a	A	T	1: 188,753,543 (GRCm38)	Y2950F	probably benign	Het
Usp32	C	T	11: 85,040,170 (GRCm38)	G478D	probably benign	Het
Wdfy3	A	G	5: 101,943,892 (GRCm38)	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,893,678 (GRCm38)	V163A	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
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
RF001:Gm14412	UTSW	2	177,317,101 (GRCm38)	missense	probably benign	0.04
RF007:Gm14412	UTSW	2	177,315,701 (GRCm38)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- CTGCAAAGGCTTTACCACATTG -3'
(R):5'- TGCATATGAGAGTCATAGTCAAAGG -3'

Sequencing Primer
(F):5'- GCAAAGGCTTTACCACATTGTTTAC -3'
(R):5'- ACCATGACTGTAACCAATGTGG -3'

Posted On

2019-08-19