Mutagenetix > Incidental Mutations

Incidental Mutation 'R6113:Gm12185'

484965

Institutional Source

Beutler Lab

Gene Symbol

Gm12185

Ensembl Gene

ENSMUSG00000048852

Gene Name

predicted gene 12185

Synonyms

MMRRC Submission

044262-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R6113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48904656-48992226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48915340 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 341 (H341Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092049 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059930
AA Change: H341Q

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: H341Q

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

possibly damaging
Transcript: ENSMUST00000094476
AA Change: H341Q

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: H341Q

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	A	16: 8,572,900	T7N	probably benign	Het
Aldh1l2	G	T	10: 83,508,134	C359*	probably null	Het
Bpifb6	G	A	2: 153,910,731	E384K	probably benign	Het
Chtf18	G	A	17: 25,722,867	R544C	probably damaging	Het
Cilp2	T	C	8: 69,882,359	D663G	probably benign	Het
Cplx3	T	A	9: 57,602,440	I92F	probably damaging	Het
Cr1l	T	C	1: 195,131,411		probably benign	Het
Cyp1a1	T	A	9: 57,701,891	F323I	probably damaging	Het
Dclk1	T	C	3: 55,489,819	Y186H	probably benign	Het
Dclre1c	T	C	2: 3,452,863	L261P	probably damaging	Het
Dcst2	T	C	3: 89,367,885	S312P	possibly damaging	Het
Diexf	T	C	1: 193,129,502	I46V	probably null	Het
Dnah17	A	G	11: 118,126,275	L213P	probably damaging	Het
Dnd1	T	A	18: 36,765,395	Y102F	probably damaging	Het
Dnm1l	T	C	16: 16,341,003	N121S	probably benign	Het
Dsp	T	A	13: 38,192,047	N1269K	probably damaging	Het
Dync1h1	T	C	12: 110,620,414	V943A	probably benign	Het
Eml5	T	A	12: 98,824,674	K1322*	probably null	Het
Fam173b	T	C	15: 31,608,162	Y120H	probably damaging	Het
Fgf23	A	G	6: 127,078,154	T76A	probably benign	Het
Fgf6	T	C	6: 127,015,937		probably null	Het
Fkbp15	G	A	4: 62,340,647	T124I	probably benign	Het
Gm20647	A	G	5: 72,329,800		probably benign	Het
Lrp2	G	C	2: 69,483,557	R2277G	possibly damaging	Het
Lrrc69	T	C	4: 14,708,673	T224A	probably benign	Het
Ly75	T	G	2: 60,368,873	I175L	probably benign	Het
Morc2b	G	T	17: 33,138,068	Y243*	probably null	Het
Myo18b	C	G	5: 112,866,385	D764H	probably damaging	Het
Naip6	T	C	13: 100,299,286	S910G	possibly damaging	Het
Nbeal1	T	A	1: 60,222,263	I21N	possibly damaging	Het
P3h2	A	T	16: 25,981,153	I430K	probably benign	Het
Pcdh9	A	G	14: 93,887,108	V542A	probably damaging	Het
Pkp3	T	A	7: 141,082,656	N60K	probably damaging	Het
Pold1	C	A	7: 44,537,700	G686C	probably damaging	Het
Prdm6	T	A	18: 53,473,601	L58Q	probably damaging	Het
Rab13	C	A	3: 90,224,866	R86S	probably benign	Het
Rad21l	A	C	2: 151,657,478	L265V	probably damaging	Het
Rec8	G	A	14: 55,622,478	A228T	probably damaging	Het
Rgs12	C	A	5: 35,020,323	R76S	probably damaging	Het
Sfmbt1	A	G	14: 30,815,184	N670D	possibly damaging	Het
Slc17a7	A	G	7: 45,174,751	T464A	possibly damaging	Het
Srcap	C	A	7: 127,560,281		probably benign	Het
Srgap2	A	T	1: 131,355,505		probably null	Het
Tenm1	C	T	X: 42,827,195	G404E	probably damaging	Het
Thpo	C	A	16: 20,728,847		probably benign	Het
Tle4	A	T	19: 14,595,588		probably null	Het
Tnfrsf14	T	C	4: 154,924,492	Q74R	possibly damaging	Het
Trav15-2-dv6-2	T	G	14: 53,649,725	V34G	probably benign	Het
Trbv13-1	C	T	6: 41,116,379	A82V	probably benign	Het
Trib1	C	T	15: 59,651,638	R174*	probably null	Het
Trpv3	G	A	11: 73,286,018	V408I	probably benign	Het
Tyk2	A	T	9: 21,107,922	V1068E	probably damaging	Het
Usp35	A	G	7: 97,324,326	S230P	probably damaging	Het
Vav1	T	A	17: 57,301,884	D349E	probably benign	Het
Vcan	T	A	13: 89,657,536	R114*	probably null	Het
Vmn1r25	T	C	6: 57,978,572	E244G	probably benign	Het
Vmn2r5	T	C	3: 64,491,399	T720A	probably benign	Het
Wdr72	T	A	9: 74,152,641	D444E	probably benign	Het
Zfhx3	T	A	8: 108,947,421	M1701K	probably benign	Het

Other mutations in Gm12185

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Gm12185	APN	11	48907222	missense	probably benign	0.01
IGL00495:Gm12185	APN	11	48907861	missense	probably damaging	0.99
IGL01763:Gm12185	APN	11	48915844	missense	probably benign	0.07
IGL01919:Gm12185	APN	11	48908059	missense	possibly damaging	0.90
IGL03388:Gm12185	APN	11	48908286	missense	probably benign	0.01
IGL03404:Gm12185	APN	11	48908037	missense	probably damaging	1.00
PIT4458001:Gm12185	UTSW	11	48907911	missense	probably damaging	1.00
R0347:Gm12185	UTSW	11	48915182	missense	probably benign	0.29
R0488:Gm12185	UTSW	11	48907839	missense	probably damaging	1.00
R1168:Gm12185	UTSW	11	48915355	missense	possibly damaging	0.60
R1223:Gm12185	UTSW	11	48907276	missense	probably damaging	0.98
R1417:Gm12185	UTSW	11	48907842	missense	probably damaging	1.00
R1468:Gm12185	UTSW	11	48915674	missense	possibly damaging	0.60
R1468:Gm12185	UTSW	11	48915674	missense	possibly damaging	0.60
R1519:Gm12185	UTSW	11	48907767	missense	probably damaging	1.00
R1558:Gm12185	UTSW	11	48915435	missense	probably damaging	0.99
R1630:Gm12185	UTSW	11	48907890	missense	probably benign	0.31
R1758:Gm12185	UTSW	11	48908032	missense	possibly damaging	0.82
R1793:Gm12185	UTSW	11	48915756	nonsense	probably null
R1908:Gm12185	UTSW	11	48915404	missense	probably benign	0.00
R1983:Gm12185	UTSW	11	48915356	missense	probably benign	0.01
R3917:Gm12185	UTSW	11	48915933	missense	probably benign	0.01
R3969:Gm12185	UTSW	11	48907345	missense	probably benign	0.03
R3970:Gm12185	UTSW	11	48907345	missense	probably benign	0.03
R4510:Gm12185	UTSW	11	48908478	missense	possibly damaging	0.84
R4511:Gm12185	UTSW	11	48908478	missense	possibly damaging	0.84
R4529:Gm12185	UTSW	11	48907920	missense	probably damaging	1.00
R4529:Gm12185	UTSW	11	48908094	missense	possibly damaging	0.66
R4532:Gm12185	UTSW	11	48907920	missense	probably damaging	1.00
R4532:Gm12185	UTSW	11	48908094	missense	possibly damaging	0.66
R4533:Gm12185	UTSW	11	48907920	missense	probably damaging	1.00
R4533:Gm12185	UTSW	11	48908094	missense	possibly damaging	0.66
R4678:Gm12185	UTSW	11	48915540	missense	probably benign	0.05
R5094:Gm12185	UTSW	11	48907548	missense	probably benign	0.35
R5238:Gm12185	UTSW	11	48908217	missense	possibly damaging	0.92
R5306:Gm12185	UTSW	11	48915555	missense	probably benign	0.03
R5371:Gm12185	UTSW	11	48915739	missense	probably benign	0.01
R5995:Gm12185	UTSW	11	48915713	missense	probably benign	0.40
R6147:Gm12185	UTSW	11	48915890	missense	probably benign
R6160:Gm12185	UTSW	11	48908428	nonsense	probably null
R6247:Gm12185	UTSW	11	48915908	missense	probably damaging	0.98
R6264:Gm12185	UTSW	11	48916175	missense	probably benign	0.01
R6748:Gm12185	UTSW	11	48916296	missense	possibly damaging	0.53
R6765:Gm12185	UTSW	11	48915704	missense	probably benign	0.12
R6970:Gm12185	UTSW	11	48907912	nonsense	probably null
R7028:Gm12185	UTSW	11	48908244	missense	possibly damaging	0.80
R7033:Gm12185	UTSW	11	48915999	missense	probably benign
R7512:Gm12185	UTSW	11	48915890	missense	probably benign
R7609:Gm12185	UTSW	11	48916023	missense	possibly damaging	0.82
R7673:Gm12185	UTSW	11	48907628	missense	probably benign	0.45
Z1176:Gm12185	UTSW	11	48908086	missense	probably benign	0.21
Z1177:Gm12185	UTSW	11	48916302	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGAAACACTTTGCCCACGG -3'
(R):5'- AGGAATCCATAATGCCAAGAGC -3'

Sequencing Primer
(F):5'- GCCTTAGAGTTGAATGAGCTCACC -3'
(R):5'- GGACATGGAGATGTTGCA -3'

Posted On

2017-08-16