Mutagenetix > Incidental Mutation

Incidental Mutation 'R6147:Gm12185'

488964

Institutional Source

Beutler Lab

Gene Symbol

Gm12185

Ensembl Gene

ENSMUSG00000048852

Gene Name

predicted gene 12185

Synonyms

MMRRC Submission

044294-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6147 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48795483-48818009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48806717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 158 (I158T)

Ref Sequence

ENSEMBL: ENSMUSP00000092049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059930] [ENSMUST00000094476]

AlphaFold

Q5NCB2

Predicted Effect

probably benign
Transcript: ENSMUST00000059930
AA Change: I158T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: I158T

Domain	Start	End	E-Value	Type
Pfam:IIGP	27	389	8.4e-123	PFAM
Pfam:MMR_HSR1	63	190	2.2e-9	PFAM
low complexity region	421	432	N/A	INTRINSIC
Pfam:IIGP	438	811	3.4e-152	PFAM
Pfam:MMR_HSR1	474	632	1.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094476
AA Change: I158T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: I158T

Domain	Start	End	E-Value	Type
Pfam:IIGP	27	389	1e-122	PFAM
Pfam:DLIC	43	98	3.2e-5	PFAM
Pfam:MMR_HSR1	63	187	6e-9	PFAM
low complexity region	421	432	N/A	INTRINSIC
Pfam:IIGP	438	811	8.9e-153	PFAM
Pfam:MMR_HSR1	474	615	2.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129318

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.1%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,657,157 (GRCm39)		probably benign	Het
Acsf3	T	A	8: 123,508,213 (GRCm39)	D236E	probably damaging	Het
Aqp1	G	T	6: 55,313,595 (GRCm39)	E40D	probably benign	Het
Arfgef2	A	G	2: 166,713,415 (GRCm39)	D1272G	probably damaging	Het
Arfip1	A	G	3: 84,436,485 (GRCm39)	V97A	probably benign	Het
Atp6v1b2	T	A	8: 69,555,134 (GRCm39)	Y165*	probably null	Het
Bclaf1	T	A	10: 20,199,171 (GRCm39)	D189E	possibly damaging	Het
Camsap2	G	A	1: 136,273,138 (GRCm39)	T13M	probably damaging	Het
Cblif	G	A	19: 11,724,936 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 10,012,894 (GRCm39)	Y297F	probably damaging	Het
Cntnap5b	G	A	1: 99,978,506 (GRCm39)	C174Y	probably damaging	Het
Cntrl	A	C	2: 35,055,745 (GRCm39)	D1213A	possibly damaging	Het
Comtd1	C	A	14: 21,898,883 (GRCm39)	A20S	probably damaging	Het
Cspg4	A	T	9: 56,796,056 (GRCm39)	R1264W	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dlgap2	T	A	8: 14,777,294 (GRCm39)	C180S	probably benign	Het
Ednra	C	T	8: 78,393,951 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,858,566 (GRCm39)	V3875A	unknown	Het
Ephb6	A	T	6: 41,593,715 (GRCm39)	S533C	probably damaging	Het
Fndc1	A	T	17: 7,972,594 (GRCm39)		probably null	Het
Gm14325	A	T	2: 177,474,600 (GRCm39)	C161S	probably damaging	Het
Ighv9-1	T	A	12: 114,057,840 (GRCm39)	Q20L	probably damaging	Het
Khnyn	G	C	14: 56,125,060 (GRCm39)	S438T	probably damaging	Het
Krt9	T	C	11: 100,079,665 (GRCm39)	S576G	unknown	Het
Lrriq4	A	T	3: 30,713,228 (GRCm39)	N443I	probably damaging	Het
Luzp1	A	G	4: 136,268,374 (GRCm39)	Y199C	probably damaging	Het
Map2k3	T	A	11: 60,840,776 (GRCm39)	Y268*	probably null	Het
Men1	T	A	19: 6,387,272 (GRCm39)	D248E	probably damaging	Het
Mfsd4b2	A	T	10: 39,797,573 (GRCm39)	C261S	probably benign	Het
Mpeg1	T	G	19: 12,440,258 (GRCm39)	I572S	probably damaging	Het
Mrgprb2	A	G	7: 48,202,113 (GRCm39)	V204A	possibly damaging	Het
Mycbp2	A	T	14: 103,392,945 (GRCm39)	C805*	probably null	Het
Nphs2	A	T	1: 156,146,296 (GRCm39)	K91*	probably null	Het
Obox3	A	G	7: 15,359,926 (GRCm39)	S248P	probably damaging	Het
Or12d17	T	C	17: 37,777,430 (GRCm39)	I111T	probably benign	Het
Or5w19	C	T	2: 87,699,061 (GRCm39)	T242I	probably benign	Het
Or8k22	A	T	2: 86,162,844 (GRCm39)	N285K	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pan3	T	C	5: 147,485,093 (GRCm39)		probably benign	Het
Pate10	A	G	9: 35,653,528 (GRCm39)	T111A	possibly damaging	Het
Pate10	A	T	9: 35,653,406 (GRCm39)	Y70F	possibly damaging	Het
Pcdhb5	T	A	18: 37,453,779 (GRCm39)	L53Q	probably damaging	Het
Pcdhb9	G	T	18: 37,535,494 (GRCm39)	R496L	possibly damaging	Het
Peg10	C	T	6: 4,754,499 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,690,481 (GRCm39)	K722E	probably damaging	Het
Plch1	A	G	3: 63,630,302 (GRCm39)	S489P	probably damaging	Het
Plekhg3	T	C	12: 76,611,985 (GRCm39)	V362A	probably damaging	Het
Prorp	A	G	12: 55,426,093 (GRCm39)	Y168C	probably damaging	Het
Radil	G	A	5: 142,483,695 (GRCm39)	H264Y	probably benign	Het
Ranbp2	C	A	10: 58,315,250 (GRCm39)	T1990K	probably damaging	Het
Rnf207	T	C	4: 152,400,112 (GRCm39)	D192G	probably damaging	Het
Ryr1	A	T	7: 28,785,339 (GRCm39)	F1784Y	possibly damaging	Het
Set	T	A	2: 29,956,836 (GRCm39)	S2T	probably benign	Het
Slc26a2	T	A	18: 61,334,757 (GRCm39)	Y232F	probably damaging	Het
Sntb1	T	A	15: 55,511,406 (GRCm39)	M393L	probably benign	Het
Stx16	A	G	2: 173,932,480 (GRCm39)	T18A	probably damaging	Het
Stxbp5	A	T	10: 9,684,216 (GRCm39)	S585T	possibly damaging	Het
Sult2a7	T	C	7: 14,199,088 (GRCm39)	E313G	probably damaging	Het
Tbck	A	G	3: 132,400,207 (GRCm39)	K86R	probably benign	Het
Tom1	A	T	8: 75,781,320 (GRCm39)	Q255L	possibly damaging	Het
Trbv4	A	G	6: 41,036,637 (GRCm39)	Y54C	probably damaging	Het
Trim34a	A	T	7: 103,910,398 (GRCm39)	Q400L	probably damaging	Het
Trim42	G	T	9: 97,245,382 (GRCm39)	H473N	probably benign	Het
Tsbp1	T	C	17: 34,637,897 (GRCm39)	S31P	possibly damaging	Het
Tshr	T	A	12: 91,505,009 (GRCm39)	M649K	possibly damaging	Het
Vmn2r11	C	T	5: 109,202,700 (GRCm39)	V126M	probably benign	Het
Vps13b	T	A	15: 35,930,177 (GRCm39)	H3971Q	probably benign	Het
Wdr75	T	A	1: 45,858,698 (GRCm39)	N622K	probably benign	Het
Wdr93	A	T	7: 79,408,245 (GRCm39)	Q242L	probably benign	Het

Other mutations in Gm12185

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Gm12185	APN	11	48,798,049 (GRCm39)	missense	probably benign	0.01
IGL00495:Gm12185	APN	11	48,798,688 (GRCm39)	missense	probably damaging	0.99
IGL01763:Gm12185	APN	11	48,806,671 (GRCm39)	missense	probably benign	0.07
IGL01919:Gm12185	APN	11	48,798,886 (GRCm39)	missense	possibly damaging	0.90
IGL03388:Gm12185	APN	11	48,799,113 (GRCm39)	missense	probably benign	0.01
IGL03404:Gm12185	APN	11	48,798,864 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Gm12185	UTSW	11	48,798,738 (GRCm39)	missense	probably damaging	1.00
R0347:Gm12185	UTSW	11	48,806,009 (GRCm39)	missense	probably benign	0.29
R0488:Gm12185	UTSW	11	48,798,666 (GRCm39)	missense	probably damaging	1.00
R1168:Gm12185	UTSW	11	48,806,182 (GRCm39)	missense	possibly damaging	0.60
R1223:Gm12185	UTSW	11	48,798,103 (GRCm39)	missense	probably damaging	0.98
R1417:Gm12185	UTSW	11	48,798,669 (GRCm39)	missense	probably damaging	1.00
R1468:Gm12185	UTSW	11	48,806,501 (GRCm39)	missense	possibly damaging	0.60
R1468:Gm12185	UTSW	11	48,806,501 (GRCm39)	missense	possibly damaging	0.60
R1519:Gm12185	UTSW	11	48,798,594 (GRCm39)	missense	probably damaging	1.00
R1558:Gm12185	UTSW	11	48,806,262 (GRCm39)	missense	probably damaging	0.99
R1630:Gm12185	UTSW	11	48,798,717 (GRCm39)	missense	probably benign	0.31
R1758:Gm12185	UTSW	11	48,798,859 (GRCm39)	missense	possibly damaging	0.82
R1793:Gm12185	UTSW	11	48,806,583 (GRCm39)	nonsense	probably null
R1908:Gm12185	UTSW	11	48,806,231 (GRCm39)	missense	probably benign	0.00
R1983:Gm12185	UTSW	11	48,806,183 (GRCm39)	missense	probably benign	0.01
R3917:Gm12185	UTSW	11	48,806,760 (GRCm39)	missense	probably benign	0.01
R3969:Gm12185	UTSW	11	48,798,172 (GRCm39)	missense	probably benign	0.03
R3970:Gm12185	UTSW	11	48,798,172 (GRCm39)	missense	probably benign	0.03
R4510:Gm12185	UTSW	11	48,799,305 (GRCm39)	missense	possibly damaging	0.84
R4511:Gm12185	UTSW	11	48,799,305 (GRCm39)	missense	possibly damaging	0.84
R4529:Gm12185	UTSW	11	48,798,921 (GRCm39)	missense	possibly damaging	0.66
R4529:Gm12185	UTSW	11	48,798,747 (GRCm39)	missense	probably damaging	1.00
R4532:Gm12185	UTSW	11	48,798,921 (GRCm39)	missense	possibly damaging	0.66
R4532:Gm12185	UTSW	11	48,798,747 (GRCm39)	missense	probably damaging	1.00
R4533:Gm12185	UTSW	11	48,798,747 (GRCm39)	missense	probably damaging	1.00
R4533:Gm12185	UTSW	11	48,798,921 (GRCm39)	missense	possibly damaging	0.66
R4678:Gm12185	UTSW	11	48,806,367 (GRCm39)	missense	probably benign	0.05
R5094:Gm12185	UTSW	11	48,798,375 (GRCm39)	missense	probably benign	0.35
R5238:Gm12185	UTSW	11	48,799,044 (GRCm39)	missense	possibly damaging	0.92
R5306:Gm12185	UTSW	11	48,806,382 (GRCm39)	missense	probably benign	0.03
R5371:Gm12185	UTSW	11	48,806,566 (GRCm39)	missense	probably benign	0.01
R5995:Gm12185	UTSW	11	48,806,540 (GRCm39)	missense	probably benign	0.40
R6113:Gm12185	UTSW	11	48,806,167 (GRCm39)	missense	possibly damaging	0.47
R6160:Gm12185	UTSW	11	48,799,255 (GRCm39)	nonsense	probably null
R6247:Gm12185	UTSW	11	48,806,735 (GRCm39)	missense	probably damaging	0.98
R6264:Gm12185	UTSW	11	48,807,002 (GRCm39)	missense	probably benign	0.01
R6748:Gm12185	UTSW	11	48,807,123 (GRCm39)	missense	possibly damaging	0.53
R6765:Gm12185	UTSW	11	48,806,531 (GRCm39)	missense	probably benign	0.12
R6970:Gm12185	UTSW	11	48,798,739 (GRCm39)	nonsense	probably null
R7028:Gm12185	UTSW	11	48,799,071 (GRCm39)	missense	possibly damaging	0.80
R7033:Gm12185	UTSW	11	48,806,826 (GRCm39)	missense	probably benign
R7512:Gm12185	UTSW	11	48,806,717 (GRCm39)	missense	probably benign
R7609:Gm12185	UTSW	11	48,806,850 (GRCm39)	missense	possibly damaging	0.82
R7673:Gm12185	UTSW	11	48,798,455 (GRCm39)	missense	probably benign	0.45
R8848:Gm12185	UTSW	11	48,806,280 (GRCm39)	missense	possibly damaging	0.60
R9578:Gm12185	UTSW	11	48,806,408 (GRCm39)	missense	probably benign
R9580:Gm12185	UTSW	11	48,799,192 (GRCm39)	missense	possibly damaging	0.48
R9712:Gm12185	UTSW	11	48,798,216 (GRCm39)	missense	probably benign	0.03
R9760:Gm12185	UTSW	11	48,806,168 (GRCm39)	missense	probably benign	0.01
Z1176:Gm12185	UTSW	11	48,798,913 (GRCm39)	missense	probably benign	0.21
Z1177:Gm12185	UTSW	11	48,807,129 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAGAAGACTGGAGGCTCCTG -3'
(R):5'- GAAGAAGGTGCAGCTGCTTC -3'

Sequencing Primer
(F):5'- AGGCTCCTGCTGGAAACGTTC -3'
(R):5'- TGCAGCTGCTTCCACAG -3'

Posted On

2017-10-10