Mutagenetix > Incidental Mutations

Incidental Mutation 'R5306:Gm12185'

404574

Institutional Source

Beutler Lab

Gene Symbol

Gm12185

Ensembl Gene

ENSMUSG00000048852

Gene Name

predicted gene 12185

Synonyms

MMRRC Submission

042889-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48904656-48992226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48915555 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 270 (M270L)

Ref Sequence

ENSEMBL: ENSMUSP00000092049 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000059930
AA Change: M270L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: M270L

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: M270L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: M270L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	G	19: 29,729,830		probably benign	Het
Adam29	T	A	8: 55,871,757	D554V	probably damaging	Het
Ankrd44	G	A	1: 54,926,203		probably benign	Het
Api5	A	T	2: 94,423,466	C297*	probably null	Het
Asb14	G	A	14: 26,911,909	C357Y	probably damaging	Het
Brdt	T	A	5: 107,345,144	D112E	probably damaging	Het
Capsl	C	A	15: 9,457,790	Q32K	probably benign	Het
Ccdc106	A	G	7: 5,058,097	D81G	probably damaging	Het
Cep104	C	A	4: 154,006,242	T884K	probably benign	Het
Cmbl	T	C	15: 31,582,069	Y71H	probably damaging	Het
Crybg3	A	T	16: 59,559,993		probably benign	Het
Dynlt1c	T	C	17: 6,601,811	M1T	probably null	Het
Erbb2	T	C	11: 98,428,206	S574P	probably benign	Het
Exosc10	T	C	4: 148,562,392	V153A	probably benign	Het
Faxc	G	T	4: 21,931,557		probably benign	Het
Fcgbp	A	G	7: 28,091,818	T835A	probably damaging	Het
Fmo5	G	T	3: 97,641,760	M241I	probably benign	Het
Gabra1	A	C	11: 42,133,552	I432S	probably benign	Het
Gfap	A	G	11: 102,895,748		probably null	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm14443	T	C	2: 175,169,579	N358S	possibly damaging	Het
Gm6583	T	C	5: 112,355,044	R265G	probably benign	Het
Gpr3	C	T	4: 133,211,179	V61M	probably damaging	Het
Herc2	C	T	7: 56,184,961	T3229M	probably damaging	Het
Ifit3	A	G	19: 34,587,807	Y251C	probably damaging	Het
Inf2	G	A	12: 112,601,553	V180I	probably benign	Het
Ints11	T	C	4: 155,875,208	Y91H	probably damaging	Het
Ints4	A	C	7: 97,509,678	D419A	probably damaging	Het
Kmt2e	T	C	5: 23,499,333	S1175P	probably damaging	Het
Mki67	A	T	7: 135,714,001	V44E	probably damaging	Het
Mrgprb13	A	T	7: 48,312,192		noncoding transcript	Het
Myh2	T	C	11: 67,186,556	L839P	probably damaging	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Olfr723	A	G	14: 49,929,550		probably benign	Het
Olfr814	A	C	10: 129,873,941	I272R	probably damaging	Het
Pced1a	T	A	2: 130,419,171	H422L	probably benign	Het
Plpp1	G	T	13: 112,851,555		probably null	Het
Plxna4	T	C	6: 32,206,121	Y949C	probably damaging	Het
Polg2	G	A	11: 106,778,970	T158I	probably damaging	Het
Prss38	A	T	11: 59,372,995	I297K	probably benign	Het
Psph	A	G	5: 129,769,367	L98P	probably damaging	Het
Rab11b	G	A	17: 33,760,269		probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,579,929		probably benign	Het
Serpine3	G	A	14: 62,670,933	A137T	probably damaging	Het
Sh3bp4	T	C	1: 89,144,275	F282L	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slco2b1	T	A	7: 99,688,991	Y109F	possibly damaging	Het
Slfn10-ps	T	A	11: 83,035,529		noncoding transcript	Het
Smc5	A	G	19: 23,259,645		probably null	Het
Smyd4	A	G	11: 75,402,158	N638S	probably benign	Het
Stxbp5	T	C	10: 9,799,991	E628G	probably damaging	Het
Tmem236	A	T	2: 14,219,164	K255*	probably null	Het
Ttc29	T	A	8: 78,251,910		probably null	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Tyr	A	G	7: 87,438,014	I430T	probably damaging	Het
Uckl1	A	G	2: 181,574,367		probably null	Het
Vmn2r52	A	C	7: 10,170,745	I389R	possibly damaging	Het
Wdr62	A	T	7: 30,265,263	F352Y	possibly damaging	Het
Wdr70	T	C	15: 7,924,273	D379G	probably benign	Het
Zfp408	T	A	2: 91,646,345	M155L	probably benign	Het
Zfp459	T	A	13: 67,413,130	Q66H	probably damaging	Het
Zfp870	C	A	17: 32,883,653	G234V	probably damaging	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
R5371:Gm12185	UTSW	11	48915739	missense	probably benign	0.01
R5995:Gm12185	UTSW	11	48915713	missense	probably benign	0.40
R6113:Gm12185	UTSW	11	48915340	missense	possibly damaging	0.47
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'- CTCATCTGAGAACAAATGTGGAGAC -3'
(R):5'- AAGAACGTTTCCAGCAGGAGC -3'

Sequencing Primer
(F):5'- AGTGTCACGTTCAAATCCTCAG -3'
(R):5'- GCAGGAGCCTCCAGTCTTCTTAG -3'

Posted On

2016-07-22