Mutagenetix > Incidental Mutation

Incidental Mutation 'R5668:Gm14412'

442416

Institutional Source

Beutler Lab

Gene Symbol

Gm14412

Ensembl Gene

ENSMUSG00000078868

Gene Name

predicted gene 14412

Synonyms

MMRRC Submission

043311-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.639) question?

Stock #

R5668 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

177314520-177324307 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 177315609 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 164 (C164*)

Ref Sequence

ENSEMBL: ENSMUSP00000104587 (fasta)

Gene Model

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

AlphaFold

A2ARR7

Predicted Effect

probably null
Transcript: ENSMUST00000108959
AA Change: C164*

SMART Domains

Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868
AA Change: C164*

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

Meta Mutation Damage Score

0.9702

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,904,550 (GRCm38)	W429R	probably damaging	Het
Afg1l	C	T	10: 42,360,240 (GRCm38)	C272Y	probably damaging	Het
Agrn	T	C	4: 156,167,313 (GRCm38)	T1831A	probably damaging	Het
AI481877	A	G	4: 59,047,399 (GRCm38)	S1407P	probably benign	Het
Aifm2	T	C	10: 61,725,917 (GRCm38)	V14A	probably damaging	Het
Angptl3	A	T	4: 99,032,084 (GRCm38)		probably null	Het
Arfgap1	A	T	2: 180,974,119 (GRCm38)	D197V	possibly damaging	Het
Atp1a3	T	C	7: 24,978,869 (GRCm38)		probably benign	Het
BC003965	G	A	17: 25,184,989 (GRCm38)	S101N	probably damaging	Het
BC067074	A	G	13: 113,317,167 (GRCm38)	S55G	possibly damaging	Het
Brwd1	T	C	16: 96,016,150 (GRCm38)	I1387M	probably damaging	Het
Cavin4	A	G	4: 48,672,499 (GRCm38)	T315A	probably benign	Het
Cep128	T	C	12: 90,999,636 (GRCm38)	T1066A	probably benign	Het
Cln3	T	C	7: 126,572,386 (GRCm38)	T376A	probably benign	Het
Cntn4	A	T	6: 106,679,436 (GRCm38)		silent	Het
Colec12	T	A	18: 9,848,963 (GRCm38)	D380E	probably damaging	Het
Csmd3	T	C	15: 47,695,755 (GRCm38)	I2371V	possibly damaging	Het
Cxcl3	T	C	5: 90,787,440 (GRCm38)	S99P	unknown	Het
Ddx60	A	G	8: 62,000,578 (GRCm38)	R1244G	probably benign	Het
Dhx38	T	C	8: 109,553,416 (GRCm38)	D914G	probably damaging	Het
Dlc1	T	G	8: 36,937,501 (GRCm38)		probably benign	Het
Fam161b	A	G	12: 84,356,350 (GRCm38)	S169P	probably damaging	Het
Fastkd1	A	G	2: 69,707,381 (GRCm38)	S286P	possibly damaging	Het
Fmn2	A	T	1: 174,582,037 (GRCm38)	E612V	unknown	Het
Foxb1	T	A	9: 69,760,246 (GRCm38)	M1L	probably damaging	Het
Gm43302	T	A	5: 105,275,812 (GRCm38)	M432L	probably benign	Het
Gm4353	C	A	7: 116,083,678 (GRCm38)	A223S	probably damaging	Het
Gm884	T	A	11: 103,617,054 (GRCm38)		probably benign	Het
Gm8994	A	T	6: 136,329,395 (GRCm38)	I264F	probably benign	Het
Gpatch8	T	C	11: 102,500,867 (GRCm38)	K143R	unknown	Het
Gpr15	A	G	16: 58,717,650 (GRCm38)	S359P	probably damaging	Het
Gucy2e	A	G	11: 69,228,381 (GRCm38)	L649P	probably damaging	Het
H2-M10.5	C	A	17: 36,774,581 (GRCm38)	H211N	probably damaging	Het
Hs6st1	T	C	1: 36,103,889 (GRCm38)	Y302H	probably damaging	Het
Khdrbs2	A	T	1: 32,467,770 (GRCm38)	D165V	probably damaging	Het
Klra13-ps	T	G	6: 130,304,283 (GRCm38)		noncoding transcript	Het
Lrrc37a	T	A	11: 103,500,175 (GRCm38)	T1475S	probably benign	Het
Ly75	A	G	2: 60,354,500 (GRCm38)	S437P	probably damaging	Het
Maz	C	T	7: 127,025,322 (GRCm38)	C342Y	probably damaging	Het
Mcf2l	C	A	8: 13,013,812 (GRCm38)	S1008*	probably null	Het
Mcmbp	T	C	7: 128,712,754 (GRCm38)	D246G	probably benign	Het
Mipol1	G	A	12: 57,325,560 (GRCm38)	R135H	possibly damaging	Het
Mycbp2	T	A	14: 103,120,519 (GRCm38)	Y4613F	possibly damaging	Het
Nup188	G	A	2: 30,336,324 (GRCm38)	A1118T	probably damaging	Het
Olfr1226	A	T	2: 89,193,826 (GRCm38)	D69E	possibly damaging	Het
Olfr1249	G	A	2: 89,630,344 (GRCm38)	L185F	probably damaging	Het
Olfr1427	A	G	19: 12,098,926 (GRCm38)	S238P	probably damaging	Het
Olfr267	T	A	4: 58,785,489 (GRCm38)	I78F	probably benign	Het
Olfr573-ps1	T	C	7: 102,941,921 (GRCm38)	K219E	probably benign	Het
Olfr585	A	T	7: 103,097,896 (GRCm38)	S52C	probably benign	Het
Olfr981	A	T	9: 40,022,668 (GRCm38)	I92F	probably damaging	Het
P3h1	T	A	4: 119,244,046 (GRCm38)	I460N	possibly damaging	Het
Pcnt	T	C	10: 76,409,500 (GRCm38)	D1101G	probably benign	Het
Phlpp2	C	A	8: 109,928,573 (GRCm38)	Q667K	possibly damaging	Het
Plec	A	G	15: 76,190,466 (GRCm38)	F434L	possibly damaging	Het
Ppp6r2	T	A	15: 89,280,399 (GRCm38)	I602N	probably damaging	Het
Rdh8	A	C	9: 20,825,179 (GRCm38)	I181L	probably benign	Het
Rnf181	A	G	6: 72,361,522 (GRCm38)	M1T	probably null	Het
Rpl29-ps2	A	G	13: 4,614,222 (GRCm38)		noncoding transcript	Het
Sart3	A	G	5: 113,745,156 (GRCm38)		probably null	Het
Sec14l2	A	C	11: 4,109,189 (GRCm38)	L160R	probably damaging	Het
Senp1	C	T	15: 98,048,355 (GRCm38)	R503H	probably damaging	Het
Slc22a2	T	C	17: 12,608,409 (GRCm38)	V316A	probably benign	Het
Slc34a1	A	T	13: 55,409,085 (GRCm38)	I365F	possibly damaging	Het
Spag5	T	C	11: 78,304,716 (GRCm38)	V283A	possibly damaging	Het
Srebf2	C	T	15: 82,192,255 (GRCm38)	T702I	probably benign	Het
Sun3	A	G	11: 9,031,433 (GRCm38)		probably null	Het
Syt6	A	G	3: 103,620,901 (GRCm38)	Y312C	probably damaging	Het
Tas2r121	T	A	6: 132,700,793 (GRCm38)	Y72F	possibly damaging	Het
Tfrc	A	G	16: 32,623,376 (GRCm38)	Y473C	probably damaging	Het
Trp63	C	T	16: 25,866,185 (GRCm38)	A274V	possibly damaging	Het
Trpm5	T	C	7: 143,073,229 (GRCm38)	D1085G	probably benign	Het
Ttn	A	G	2: 76,914,664 (GRCm38)	V5347A	probably benign	Het
Vma21-ps	T	A	4: 52,496,946 (GRCm38)	Q100L	possibly damaging	Het
Vmn2r22	T	C	6: 123,637,914 (GRCm38)	N239S	probably benign	Het
Wfdc8	T	C	2: 164,597,419 (GRCm38)		probably benign	Het
Xkr4	T	A	1: 3,671,035 (GRCm38)	Y105F	probably damaging	Het
Xpo7	C	T	14: 70,682,846 (GRCm38)	V627I	possibly damaging	Het
Zfp606	T	C	7: 12,492,552 (GRCm38)	V200A	probably benign	Het
Zfp936	A	T	7: 43,190,434 (GRCm38)	S441C	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
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
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'- TTTCTGCAAAGGCTTTACCAC -3'
(R):5'- GCCTTTGCATATGAGAGTCATAGTC -3'

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

Posted On

2016-11-09