Mutagenetix > Incidental Mutation

Incidental Mutation 'R4061:Gm14443'

368216

Institutional Source

Beutler Lab

Gene Symbol

Gm14443

Ensembl Gene

ENSMUSG00000078902

Gene Name

predicted gene 14443

Synonyms

MMRRC Submission

040852-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4061 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

175008048-175017664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 175011402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 348 (T348I)

Ref Sequence

ENSEMBL: ENSMUSP00000104682 (fasta)

Gene Model

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

AlphaFold

A2ARX0

Predicted Effect

probably benign
Transcript: ENSMUST00000109054
AA Change: T348I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000104682
Gene: ENSMUSG00000078902
AA Change: T348I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

94% (51/54)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,197,928 (GRCm39)	L140Q	probably damaging	Het
Adam25	A	G	8: 41,206,819 (GRCm39)	I28M	possibly damaging	Het
Anks1b	A	G	10: 90,143,484 (GRCm39)	S464G	probably damaging	Het
AU040320	T	A	4: 126,729,488 (GRCm39)	M550K	probably damaging	Het
Cab39l	A	G	14: 59,737,056 (GRCm39)	K59E	possibly damaging	Het
Cdc5l	C	T	17: 45,721,816 (GRCm39)	A485T	probably benign	Het
Csmd1	A	G	8: 15,995,158 (GRCm39)	S2626P	probably benign	Het
Ctss	C	T	3: 95,450,345 (GRCm39)	R99W	probably benign	Het
Deptor	A	T	15: 55,072,177 (GRCm39)	M219L	probably benign	Het
Disp1	A	G	1: 182,869,264 (GRCm39)	V1052A	probably damaging	Het
Esyt3	C	T	9: 99,202,891 (GRCm39)	S504N	probably damaging	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Folh1	T	A	7: 86,406,170 (GRCm39)	Y301F	possibly damaging	Het
Gtpbp2	G	A	17: 46,478,253 (GRCm39)	R467H	probably damaging	Het
Hnrnpll	T	C	17: 80,340,201 (GRCm39)	H526R	probably benign	Het
Iars2	A	T	1: 185,035,583 (GRCm39)	H552Q	possibly damaging	Het
Il18r1	G	A	1: 40,514,096 (GRCm39)	V101I	probably benign	Het
Impdh2	A	G	9: 108,440,003 (GRCm39)	R182G	possibly damaging	Het
Krt12	A	T	11: 99,306,841 (GRCm39)	M487K	unknown	Het
Lmln	C	A	16: 32,886,761 (GRCm39)	Y89*	probably null	Het
Lrrc38	T	A	4: 143,077,076 (GRCm39)	L113Q	probably damaging	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Muc5ac	A	G	7: 141,364,867 (GRCm39)	D1947G	possibly damaging	Het
Myh13	A	T	11: 67,221,715 (GRCm39)	I177F	possibly damaging	Het
Nfasc	T	C	1: 132,525,583 (GRCm39)	Y904C	probably damaging	Het
Obscn	G	A	11: 58,899,358 (GRCm39)	P1000S	probably damaging	Het
Or52n4	T	A	7: 104,293,680 (GRCm39)	K298*	probably null	Het
Or5t7	T	A	2: 86,507,162 (GRCm39)	I172F	probably damaging	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Pclo	A	G	5: 14,590,580 (GRCm39)	E960G	unknown	Het
Plagl1	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	10: 13,004,515 (GRCm39)		probably benign	Het
Prl7a1	T	C	13: 27,819,832 (GRCm39)	I141V	possibly damaging	Het
Ptpn18	A	T	1: 34,512,011 (GRCm39)	H45L	possibly damaging	Het
Sbno1	A	T	5: 124,526,635 (GRCm39)	M960K	probably damaging	Het
Slx4ip	T	A	2: 136,846,937 (GRCm39)	S67R	probably benign	Het
Spata18	A	G	5: 73,828,509 (GRCm39)	K243E	probably damaging	Het
Tcp1	A	G	17: 13,139,750 (GRCm39)	Q265R	probably benign	Het
Tec	C	T	5: 72,980,752 (GRCm39)		probably benign	Het
Thbs4	A	G	13: 92,912,605 (GRCm39)		probably null	Het
Tln1	T	A	4: 43,549,177 (GRCm39)	Q635L	probably damaging	Het
Tshz2	A	G	2: 169,804,245 (GRCm39)		probably benign	Het
Uap1	T	C	1: 169,986,415 (GRCm39)	E189G	possibly damaging	Het
Usp21	G	A	1: 171,112,974 (GRCm39)		probably benign	Het
Vmn1r118	G	T	7: 20,645,933 (GRCm39)	Q114K	probably damaging	Het
Vmn1r38	A	T	6: 66,753,832 (GRCm39)	C95S	possibly damaging	Het
Vmn2r12	A	T	5: 109,240,058 (GRCm39)	N168K	possibly damaging	Het
Vmn2r84	T	A	10: 130,221,898 (GRCm39)	E774V	probably damaging	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
R4089:Gm14443	UTSW	2	175,013,685 (GRCm39)	missense	probably damaging	1.00
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'- TTGGAGGTCACCACTTCTTATAAAA -3'
(R):5'- GCGGACCTCCAAATACATAAGC -3'

Sequencing Primer
(F):5'- CGCTCATGTATTTGGAGATTACTGC -3'
(R):5'- AGCTTTTATAAGAAGTGGGGACCTCC -3'

Posted On

2016-01-06