Mutagenetix > Incidental Mutation

Incidental Mutation 'R4089:Gm14443'

317498

Institutional Source

Beutler Lab

Gene Symbol

Gm14443

Ensembl Gene

ENSMUSG00000078902

Gene Name

predicted gene 14443

Synonyms

MMRRC Submission

040982-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R4089 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

175008048-175017664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 175013685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 29 (Y29C)

Ref Sequence

ENSEMBL: ENSMUSP00000104682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109054]

AlphaFold

A2ARX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000109054
AA Change: Y29C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104682
Gene: ENSMUSG00000078902
AA Change: Y29C

Domain	Start	End	E-Value	Type
KRAB	4	66	1.9e-15	SMART
ZnF_C2H2	78	97	1.38e2	SMART
ZnF_C2H2	103	123	3.05e1	SMART
ZnF_C2H2	131	153	1.25e-1	SMART
ZnF_C2H2	159	179	7.89e0	SMART
ZnF_C2H2	187	209	2.27e-4	SMART
ZnF_C2H2	215	237	4.54e-4	SMART
ZnF_C2H2	243	265	5.99e-4	SMART
ZnF_C2H2	271	293	4.54e-4	SMART
ZnF_C2H2	299	321	5.21e-4	SMART
ZnF_C2H2	327	349	3.95e-4	SMART
ZnF_C2H2	355	377	4.24e-4	SMART
ZnF_C2H2	383	405	5.21e-4	SMART
ZnF_C2H2	411	433	5.21e-4	SMART
ZnF_C2H2	439	461	3.95e-4	SMART
ZnF_C2H2	467	489	4.24e-4	SMART
ZnF_C2H2	495	517	5.21e-4	SMART
ZnF_C2H2	523	545	3.95e-4	SMART
ZnF_C2H2	551	573	5.21e-4	SMART
ZnF_C2H2	579	601	2.27e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127251

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
A530064D06Rik	A	G	17: 48,473,678 (GRCm39)	S80P	probably damaging	Het
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Actr5	T	C	2: 158,467,022 (GRCm39)		probably benign	Het
Arhgef17	T	A	7: 100,533,006 (GRCm39)	E1173V	probably damaging	Het
Brca1	T	C	11: 101,415,002 (GRCm39)	N1044S	possibly damaging	Het
Cap1	A	G	4: 122,756,202 (GRCm39)	V398A	probably benign	Het
Cbs	A	C	17: 31,851,980 (GRCm39)	C8G	probably benign	Het
Csmd1	T	A	8: 16,042,738 (GRCm39)	I2332F	probably damaging	Het
Ddx4	A	G	13: 112,750,295 (GRCm39)	V386A	probably benign	Het
Dip2a	T	C	10: 76,114,323 (GRCm39)		probably null	Het
Dock9	A	T	14: 121,820,883 (GRCm39)	C1494S	probably damaging	Het
Ehbp1	A	T	11: 22,045,898 (GRCm39)	L592Q	possibly damaging	Het
Fbn2	C	T	18: 58,186,841 (GRCm39)	D1687N	probably benign	Het
Flt1	C	A	5: 147,501,051 (GRCm39)	L1327F	probably benign	Het
Frem3	T	C	8: 81,341,802 (GRCm39)	F1365S	probably damaging	Het
Gigyf2	A	G	1: 87,371,394 (GRCm39)	E1169G	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gpr108	A	G	17: 57,544,925 (GRCm39)	Y313H	probably damaging	Het
Ifngr1	T	C	10: 19,477,233 (GRCm39)		probably null	Het
Il31ra	C	T	13: 112,688,453 (GRCm39)	W41*	probably null	Het
Ints4	T	A	7: 97,178,462 (GRCm39)	Y687*	probably null	Het
Jpt2	A	G	17: 25,175,076 (GRCm39)	S37P	probably benign	Het
Kcnk9	A	G	15: 72,418,112 (GRCm39)	V6A	probably benign	Het
Lamc3	C	T	2: 31,810,520 (GRCm39)	R797*	probably null	Het
Lrig1	A	G	6: 94,586,840 (GRCm39)	I612T	possibly damaging	Het
Mapk4	C	A	18: 74,063,530 (GRCm39)	C564F	probably damaging	Het
Marveld2	T	A	13: 100,736,988 (GRCm39)	H215L	probably benign	Het
Mindy3	T	C	2: 12,369,327 (GRCm39)	M84V	probably benign	Het
Nek3	T	C	8: 22,639,929 (GRCm39)	D182G	probably damaging	Het
Or10ak7	C	T	4: 118,791,230 (GRCm39)	E272K	probably benign	Het
Pkp3	G	A	7: 140,664,056 (GRCm39)	R411H	probably damaging	Het
Plau	A	G	14: 20,891,134 (GRCm39)	D366G	probably damaging	Het
Prkd3	A	G	17: 79,278,817 (GRCm39)	M423T	possibly damaging	Het
Prmt9	A	T	8: 78,299,174 (GRCm39)	I623L	probably benign	Het
Rgs6	A	T	12: 83,110,261 (GRCm39)	E175D	probably damaging	Het
Rnf135	G	A	11: 80,089,872 (GRCm39)	G403S	probably damaging	Het
Scn11a	C	T	9: 119,624,719 (GRCm39)		probably null	Het
Snap23	C	T	2: 120,414,856 (GRCm39)		probably benign	Het
Sos1	A	G	17: 80,756,781 (GRCm39)	V257A	probably benign	Het
Sox10	C	T	15: 79,040,563 (GRCm39)	V165M	possibly damaging	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Tex14	A	G	11: 87,403,029 (GRCm39)	D533G	probably damaging	Het
Topbp1	T	C	9: 103,201,700 (GRCm39)		probably null	Het
Trim30d	T	C	7: 104,137,007 (GRCm39)	N66D	probably damaging	Het
Trim65	G	A	11: 116,017,305 (GRCm39)	Q386*	probably null	Het
Trip4	A	G	9: 65,765,565 (GRCm39)	V378A	probably benign	Het
Vmn2r115	A	C	17: 23,565,358 (GRCm39)	Q415P	probably benign	Het
Washc2	A	T	6: 116,233,253 (GRCm39)		probably null	Het

Other mutations in Gm14443

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02248:Gm14443	APN	2	175,012,107 (GRCm39)	missense	probably benign	0.01
R0081:Gm14443	UTSW	2	175,011,729 (GRCm39)	missense	probably damaging	1.00
R1312:Gm14443	UTSW	2	175,013,383 (GRCm39)	splice site	probably benign
R1958:Gm14443	UTSW	2	175,011,497 (GRCm39)	missense	probably benign	0.31
R4061:Gm14443	UTSW	2	175,011,402 (GRCm39)	missense	probably benign	0.01
R5306:Gm14443	UTSW	2	175,011,372 (GRCm39)	missense	possibly damaging	0.63
R5405:Gm14443	UTSW	2	175,013,644 (GRCm39)	missense	possibly damaging	0.55
R5417:Gm14443	UTSW	2	175,011,796 (GRCm39)	missense	probably damaging	1.00
R6422:Gm14443	UTSW	2	175,012,174 (GRCm39)	nonsense	probably null
R7410:Gm14443	UTSW	2	175,011,069 (GRCm39)	missense	possibly damaging	0.85
R7880:Gm14443	UTSW	2	175,011,163 (GRCm39)	missense	probably benign	0.08
R7962:Gm14443	UTSW	2	175,012,035 (GRCm39)	missense	probably benign	0.01
R8081:Gm14443	UTSW	2	175,012,238 (GRCm39)	nonsense	probably null
R8174:Gm14443	UTSW	2	175,011,468 (GRCm39)	missense	probably damaging	1.00
R8315:Gm14443	UTSW	2	175,013,640 (GRCm39)	critical splice donor site	probably null
R8725:Gm14443	UTSW	2	175,010,693 (GRCm39)	nonsense	probably null
R8804:Gm14443	UTSW	2	175,011,652 (GRCm39)	missense	probably damaging	0.98
R9109:Gm14443	UTSW	2	175,011,869 (GRCm39)	nonsense	probably null
R9298:Gm14443	UTSW	2	175,011,869 (GRCm39)	nonsense	probably null
R9332:Gm14443	UTSW	2	175,017,610 (GRCm39)	start gained	probably benign
R9624:Gm14443	UTSW	2	175,012,129 (GRCm39)	missense	possibly damaging	0.92
R9766:Gm14443	UTSW	2	175,012,248 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACAGCCCCAGAGAAAGTATGTTAC -3'
(R):5'- GACAGGGTAGTCAGCAAATATTC -3'

Sequencing Primer
(F):5'- CCCCAGAGAAAGTATGTTACATTATC -3'
(R):5'- GGGTAGTCAGCAAATATTCATTTTG -3'

Posted On

2015-05-15