Mutagenetix > Incidental Mutation

Incidental Mutation 'R0932:Gm14403'

80948

Institutional Source

Beutler Lab

Gene Symbol

Gm14403

Ensembl Gene

ENSMUSG00000094786

Gene Name

predicted gene 14403

Synonyms

MMRRC Submission

039076-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R0932 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

177190008-177201556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 177198810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 38 (R38W)

Ref Sequence

ENSEMBL: ENSMUSP00000104575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108940] [ENSMUST00000108947]

AlphaFold

A2BFU4

Predicted Effect

probably benign
Transcript: ENSMUST00000108940

SMART Domains

Protein: ENSMUSP00000104568
Gene: ENSMUSG00000094786

Domain	Start	End	E-Value	Type
internal_repeat_1	1	73	1.34e-11	PROSPERO
internal_repeat_1	169	241	1.34e-11	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000108947
AA Change: R38W

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104575
Gene: ENSMUSG00000094786
AA Change: R38W

Domain	Start	End	E-Value	Type
KRAB	4	66	4.86e-13	SMART
ZnF_C2H2	76	97	2.31e2	SMART
ZnF_C2H2	103	125	1.2e-3	SMART
ZnF_C2H2	131	153	1.18e-2	SMART
ZnF_C2H2	159	179	4.57e0	SMART
ZnF_C2H2	187	209	5.59e-4	SMART
ZnF_C2H2	215	237	1.12e-3	SMART
ZnF_C2H2	243	265	1.18e-2	SMART
ZnF_C2H2	271	293	8.6e-5	SMART
ZnF_C2H2	299	321	3.16e-3	SMART
ZnF_C2H2	327	349	1.84e-4	SMART
ZnF_C2H2	355	377	3.44e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142549

Meta Mutation Damage Score

0.4214

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.2%
20x: 97.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 90,852,995 (GRCm39)	N47S	probably benign	Het
AA986860	T	C	1: 130,665,430 (GRCm39)		probably null	Het
Akap9	T	A	5: 4,096,492 (GRCm39)	C2456S	possibly damaging	Het
Anks3	C	T	16: 4,771,691 (GRCm39)	R111H	probably damaging	Het
Atp1a3	A	T	7: 24,687,401 (GRCm39)		probably null	Het
Bahd1	T	C	2: 118,746,408 (GRCm39)	L9P	probably damaging	Het
Capn12	T	C	7: 28,587,123 (GRCm39)	V364A	possibly damaging	Het
Cds1	T	A	5: 101,944,891 (GRCm39)	C122S	probably damaging	Het
Cenpc1	T	C	5: 86,185,459 (GRCm39)	T351A	possibly damaging	Het
Cuzd1	T	C	7: 130,921,923 (GRCm39)		probably benign	Het
Daxx	T	C	17: 34,129,635 (GRCm39)	L72P	probably damaging	Het
Depdc1b	A	G	13: 108,523,369 (GRCm39)	I415V	probably benign	Het
Dlg2	T	C	7: 92,024,845 (GRCm39)	V675A	probably damaging	Het
Dtx4	A	G	19: 12,469,515 (GRCm39)	V204A	probably benign	Het
Ganc	T	C	2: 120,288,610 (GRCm39)	V872A	probably damaging	Het
Gm4553	T	C	7: 141,719,423 (GRCm39)	S2G	unknown	Het
Gm8159	G	A	14: 4,635,226 (GRCm38)	R148H	possibly damaging	Het
Gsdmc3	T	C	15: 63,730,400 (GRCm39)		probably null	Het
Ibtk	C	T	9: 85,617,099 (GRCm39)	G158R	probably damaging	Het
Irx2	T	A	13: 72,779,675 (GRCm39)	S320T	possibly damaging	Het
Kctd7	A	T	5: 130,180,510 (GRCm39)		probably null	Het
Kdr	T	C	5: 76,129,465 (GRCm39)	T141A	probably benign	Het
Krt25	T	A	11: 99,212,109 (GRCm39)	Q176L	possibly damaging	Het
Krt71	T	C	15: 101,645,195 (GRCm39)	N372S	probably benign	Het
Mllt3	A	G	4: 87,707,621 (GRCm39)	V446A	probably damaging	Het
Or1j21	T	A	2: 36,683,903 (GRCm39)	Y218*	probably null	Het
Or4k38	A	T	2: 111,165,543 (GRCm39)	D293E	probably benign	Het
Or5p4	C	T	7: 107,680,727 (GRCm39)	T242M	probably damaging	Het
Or5p52	A	C	7: 107,502,397 (GRCm39)	T158P	possibly damaging	Het
Or9e1	T	C	11: 58,732,540 (GRCm39)	V200A	possibly damaging	Het
Poldip2	T	C	11: 78,403,294 (GRCm39)	S18P	possibly damaging	Het
Ptprd	T	G	4: 76,055,122 (GRCm39)	Q193P	probably damaging	Het
Reck	C	T	4: 43,922,838 (GRCm39)	T371M	possibly damaging	Het
Rnf144b	G	T	13: 47,374,001 (GRCm39)	R66L	probably null	Het
Rpn2	T	A	2: 157,125,691 (GRCm39)	D67E	possibly damaging	Het
Scn11a	A	G	9: 119,636,876 (GRCm39)	F275S	probably damaging	Het
Slc12a5	G	A	2: 164,838,805 (GRCm39)		probably benign	Het
Snapc4	A	G	2: 26,264,658 (GRCm39)	I253T	probably damaging	Het
Tppp2	C	T	14: 52,157,881 (GRCm39)		probably benign	Het
Usp9y	A	C	Y: 1,315,930 (GRCm39)	N2068K	probably benign	Het
Vmn2r45	A	G	7: 8,478,380 (GRCm39)	C536R	probably damaging	Het

Other mutations in Gm14403

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01835:Gm14403	APN	2	177,199,049 (GRCm39)	missense	probably damaging	0.99
IGL02660:Gm14403	APN	2	177,201,257 (GRCm39)	missense	probably damaging	1.00
R0492:Gm14403	UTSW	2	177,200,359 (GRCm39)	missense	probably benign	0.09
R0975:Gm14403	UTSW	2	177,201,217 (GRCm39)	missense	probably damaging	1.00
R1468:Gm14403	UTSW	2	177,199,024 (GRCm39)	splice site	probably benign
R1853:Gm14403	UTSW	2	177,200,932 (GRCm39)	missense	probably damaging	1.00
R3011:Gm14403	UTSW	2	177,200,786 (GRCm39)	missense	probably benign
R3803:Gm14403	UTSW	2	177,200,569 (GRCm39)	missense	probably benign	0.04
R4589:Gm14403	UTSW	2	177,200,428 (GRCm39)	missense	probably benign	0.29
R4805:Gm14403	UTSW	2	177,200,492 (GRCm39)	missense	probably damaging	0.97
R5085:Gm14403	UTSW	2	177,200,282 (GRCm39)	missense	probably benign	0.04
R5311:Gm14403	UTSW	2	177,201,448 (GRCm39)	unclassified	probably benign
R5425:Gm14403	UTSW	2	177,201,448 (GRCm39)	unclassified	probably benign
R5643:Gm14403	UTSW	2	177,199,054 (GRCm39)	missense	possibly damaging	0.87
R5644:Gm14403	UTSW	2	177,199,054 (GRCm39)	missense	possibly damaging	0.87
R5739:Gm14403	UTSW	2	177,201,040 (GRCm39)	missense	probably damaging	1.00
R5982:Gm14403	UTSW	2	177,200,345 (GRCm39)	missense	probably damaging	0.98
R6197:Gm14403	UTSW	2	177,201,448 (GRCm39)	unclassified	probably benign
R6198:Gm14403	UTSW	2	177,201,448 (GRCm39)	unclassified	probably benign
R6892:Gm14403	UTSW	2	177,201,040 (GRCm39)	missense	probably damaging	1.00
R7090:Gm14403	UTSW	2	177,201,114 (GRCm39)	missense	possibly damaging	0.87
R7168:Gm14403	UTSW	2	177,201,318 (GRCm39)	missense	probably damaging	0.96
R7510:Gm14403	UTSW	2	177,200,403 (GRCm39)	missense	probably benign	0.01
R7623:Gm14403	UTSW	2	177,200,405 (GRCm39)	missense	probably benign
R8049:Gm14403	UTSW	2	177,200,311 (GRCm39)	missense	probably benign	0.00
R8557:Gm14403	UTSW	2	177,201,354 (GRCm39)	missense	probably damaging	0.99
R9224:Gm14403	UTSW	2	177,200,336 (GRCm39)	missense	probably benign
R9333:Gm14403	UTSW	2	177,200,919 (GRCm39)	missense	probably benign	0.42
R9632:Gm14403	UTSW	2	177,201,421 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2013-11-07