Mutagenetix > Incidental Mutation

Incidental Mutation 'R2026:Gm14412'

220576

Institutional Source

Beutler Lab

Gene Symbol

Gm14412

Ensembl Gene

ENSMUSG00000078868

Gene Name

predicted gene 14412

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.634) question?

Stock #

R2026 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

177006313-177016100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 177008898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 50 (H50Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104587 (fasta)

Gene Model

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

AlphaFold

A2ARR7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108959
AA Change: H50Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868
AA Change: H50Q

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,880,205 (GRCm39)	K269R	probably benign	Het
Abcc12	A	G	8: 87,284,862 (GRCm39)	V251A	probably benign	Het
Avil	G	A	10: 126,847,742 (GRCm39)	G556S	probably damaging	Het
C3	T	C	17: 57,525,562 (GRCm39)	Y898C	probably damaging	Het
Cacng2	A	G	15: 77,879,720 (GRCm39)	F201L	possibly damaging	Het
Casp7	T	A	19: 56,424,830 (GRCm39)	I183N	probably damaging	Het
Cntn3	A	T	6: 102,397,388 (GRCm39)	W62R	probably damaging	Het
Ctrb1	T	C	8: 112,415,317 (GRCm39)	N119S	probably benign	Het
Cyp3a59	G	A	5: 146,033,098 (GRCm39)	V157M	probably damaging	Het
Dhfr	G	T	13: 92,502,279 (GRCm39)	G117*	probably null	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dlg2	C	A	7: 91,614,931 (GRCm39)	P290Q	probably damaging	Het
Dnah3	T	A	7: 119,638,629 (GRCm39)	Q1240L	probably damaging	Het
Exd1	A	T	2: 119,350,786 (GRCm39)	S492T	probably benign	Het
Fermt1	T	C	2: 132,760,445 (GRCm39)	I415M	probably benign	Het
Fsip2	A	G	2: 82,819,788 (GRCm39)	T5174A	possibly damaging	Het
Fuca2	T	G	10: 13,388,391 (GRCm39)	V389G	probably damaging	Het
Gm5129	G	A	5: 29,940,732 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,778,322 (GRCm39)	R437G	possibly damaging	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Hs1bp3	A	G	12: 8,387,738 (GRCm39)	E301G	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ice2	T	C	9: 69,323,607 (GRCm39)	S701P	probably benign	Het
Igf2bp1	A	G	11: 95,864,996 (GRCm39)	V151A	possibly damaging	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Man2b1	G	C	8: 85,821,964 (GRCm39)	W726C	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msh6	C	T	17: 88,297,771 (GRCm39)	H1264Y	probably damaging	Het
Ncoa1	A	T	12: 4,317,647 (GRCm39)	S1228R	probably benign	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nutm2	A	G	13: 50,628,856 (GRCm39)	H640R	probably benign	Het
Or11i1	T	C	3: 106,729,027 (GRCm39)	I283V	probably benign	Het
Or2t1	T	C	14: 14,328,891 (GRCm38)	V260A	probably benign	Het
Or51ac3	T	A	7: 103,214,084 (GRCm39)	Y134F	probably damaging	Het
Or5b123	T	A	19: 13,596,945 (GRCm39)	C140S	probably damaging	Het
Or5w1b	G	T	2: 87,475,753 (GRCm39)	A238E	probably damaging	Het
Or6c211	T	A	10: 129,506,334 (GRCm39)	D18V	probably damaging	Het
Pde1c	C	T	6: 56,157,175 (GRCm39)	V162I	probably damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pfas	C	T	11: 68,884,783 (GRCm39)	G473E	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Polq	A	G	16: 36,883,107 (GRCm39)	D1757G	possibly damaging	Het
Popdc3	T	C	10: 45,190,951 (GRCm39)	W21R	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rfc1	G	T	5: 65,445,372 (GRCm39)	T412K	probably damaging	Het
Sap130	T	C	18: 31,831,627 (GRCm39)	S706P	possibly damaging	Het
Scgn	T	C	13: 24,175,047 (GRCm39)		probably benign	Het
Smad7	T	C	18: 75,527,225 (GRCm39)	V357A	probably damaging	Het
Snrnp48	G	T	13: 38,393,862 (GRCm39)	A56S	possibly damaging	Het
Sptbn1	G	T	11: 30,054,559 (GRCm39)	A2178E	probably benign	Het
Syn2	C	T	6: 115,255,212 (GRCm39)	T508I	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Trpm7	T	C	2: 126,654,658 (GRCm39)	K1427E	probably benign	Het
Trrap	A	G	5: 144,739,854 (GRCm39)	I1118V	possibly damaging	Het
Tslp	A	T	18: 32,948,725 (GRCm39)	I37L	probably benign	Het
Ttll3	G	A	6: 113,375,731 (GRCm39)	V297M	probably damaging	Het
Ttn	T	C	2: 76,540,713 (GRCm39)	D34091G	possibly damaging	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,953,474 (GRCm39)	F803L	probably damaging	Het
Ubn1	A	G	16: 4,882,514 (GRCm39)	E325G	probably damaging	Het
Wfikkn2	A	G	11: 94,129,779 (GRCm39)	W121R	possibly damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het
Zfp616	A	T	11: 73,974,413 (GRCm39)	L227F	possibly damaging	Het

Other mutations in Gm14412

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm14412	APN	2	177,007,479 (GRCm39)	missense	probably benign
R0124:Gm14412	UTSW	2	177,007,705 (GRCm39)	splice site	probably benign
R0507:Gm14412	UTSW	2	177,006,325 (GRCm39)	missense	possibly damaging	0.46
R1833:Gm14412	UTSW	2	177,007,583 (GRCm39)	missense	probably benign	0.00
R1908:Gm14412	UTSW	2	177,007,630 (GRCm39)	missense	probably benign	0.03
R1908:Gm14412	UTSW	2	177,007,269 (GRCm39)	missense	probably damaging	1.00
R2209:Gm14412	UTSW	2	177,009,229 (GRCm39)	missense	probably damaging	1.00
R2656:Gm14412	UTSW	2	177,006,993 (GRCm39)	missense	unknown
R3946:Gm14412	UTSW	2	177,006,478 (GRCm39)	nonsense	probably null
R4430:Gm14412	UTSW	2	177,007,625 (GRCm39)	missense	probably benign	0.09
R4537:Gm14412	UTSW	2	177,006,352 (GRCm39)	missense	probably benign	0.06
R4595:Gm14412	UTSW	2	177,007,005 (GRCm39)	missense	unknown
R4928:Gm14412	UTSW	2	177,006,373 (GRCm39)	missense	probably benign	0.01
R5100:Gm14412	UTSW	2	177,006,908 (GRCm39)	missense	probably damaging	0.99
R5434:Gm14412	UTSW	2	177,006,405 (GRCm39)	missense	probably damaging	1.00
R5668:Gm14412	UTSW	2	177,007,402 (GRCm39)	nonsense	probably null
R6173:Gm14412	UTSW	2	177,006,330 (GRCm39)	missense	probably damaging	1.00
R6558:Gm14412	UTSW	2	177,006,347 (GRCm39)	missense	probably damaging	0.99
R6784:Gm14412	UTSW	2	177,009,133 (GRCm39)	missense	probably benign	0.10
R7094:Gm14412	UTSW	2	177,009,138 (GRCm39)	missense	probably damaging	1.00
R7182:Gm14412	UTSW	2	177,007,408 (GRCm39)	missense	probably benign	0.44
R7254:Gm14412	UTSW	2	177,009,189 (GRCm39)	missense	probably damaging	0.97
R7793:Gm14412	UTSW	2	177,007,660 (GRCm39)	missense	possibly damaging	0.78
R7799:Gm14412	UTSW	2	177,007,590 (GRCm39)	missense	probably benign	0.01
R8238:Gm14412	UTSW	2	177,007,111 (GRCm39)	missense	unknown
R9098:Gm14412	UTSW	2	177,006,356 (GRCm39)	missense	probably damaging	1.00
R9304:Gm14412	UTSW	2	177,007,547 (GRCm39)	missense	probably benign
R9699:Gm14412	UTSW	2	177,007,636 (GRCm39)	nonsense	probably null
RF001:Gm14412	UTSW	2	177,008,894 (GRCm39)	missense	probably benign	0.04
RF007:Gm14412	UTSW	2	177,007,494 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GAAGACACTCACACTTGTACAGCA -3'
(R):5'- GAAGAGTCTCTACAAAGATGTGATGC -3'

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

Posted On

2014-08-25