Mutagenetix > Incidental Mutation

Incidental Mutation 'R5094:Gm12185'

387997

Institutional Source

Beutler Lab

Gene Symbol

Gm12185

Ensembl Gene

ENSMUSG00000048852

Gene Name

predicted gene 12185

Synonyms

MMRRC Submission

042683-MU

Accession Numbers

Essential gene?

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

Stock #

R5094 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48795483-48818009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48798375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 706 (D706V)

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: D706V

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: D706V

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: D706V

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: D706V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

91% (40/44)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	T	15: 81,946,883 (GRCm39)	G260V	possibly damaging	Het
Agap3	T	C	5: 24,656,319 (GRCm39)		probably benign	Het
Bicra	A	G	7: 15,709,296 (GRCm39)	S1173P	probably damaging	Het
C3	A	T	17: 57,532,033 (GRCm39)		probably null	Het
Cdh18	G	A	15: 22,714,625 (GRCm39)		probably benign	Het
Cep290	A	G	10: 100,402,892 (GRCm39)	K2274E	probably damaging	Het
Cfap54	T	C	10: 92,734,861 (GRCm39)		probably benign	Het
Chat	T	A	14: 32,130,896 (GRCm39)	I582F	probably damaging	Het
Chrnb4	T	C	9: 54,942,597 (GRCm39)	I226V	probably benign	Het
Dnajc2	T	C	5: 21,981,730 (GRCm39)	T139A	probably damaging	Het
Eml1	T	C	12: 108,502,570 (GRCm39)	F712S	probably benign	Het
Fgfr1	C	T	8: 26,060,181 (GRCm39)	S524L	probably damaging	Het
Gimap3	T	C	6: 48,742,306 (GRCm39)	E208G	probably damaging	Het
Gucy1a2	T	A	9: 3,865,443 (GRCm39)	V639D	probably damaging	Het
Hivep2	T	C	10: 14,007,893 (GRCm39)	F1497S	probably benign	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Ifit3b	T	A	19: 34,589,948 (GRCm39)	S375T	possibly damaging	Het
Mucl1	A	G	15: 103,785,669 (GRCm39)	S13P	possibly damaging	Het
Or5w12	C	T	2: 87,502,174 (GRCm39)	C179Y	possibly damaging	Het
Or8k20	T	A	2: 86,106,384 (GRCm39)	Y149F	probably damaging	Het
Pah	T	A	10: 87,374,081 (GRCm39)	Y78*	probably null	Het
Pex13	A	G	11: 23,605,441 (GRCm39)	V263A	probably benign	Het
Pfdn2	T	A	1: 171,184,067 (GRCm39)		probably benign	Het
Phip	C	T	9: 82,753,897 (GRCm39)	V1616I	probably benign	Het
Pigg	A	G	5: 108,484,123 (GRCm39)	S457G	possibly damaging	Het
Ppp1r13b	A	G	12: 111,810,044 (GRCm39)	S97P	probably benign	Het
Slc22a6	T	C	19: 8,603,541 (GRCm39)	L535P	probably damaging	Het
Slc5a1	A	G	5: 33,315,624 (GRCm39)	T548A	probably damaging	Het
Smtnl2	T	A	11: 72,291,211 (GRCm39)	S346C	probably damaging	Het
Spata31d1a	A	G	13: 59,852,858 (GRCm39)		probably null	Het
Tlcd2	T	C	11: 75,360,640 (GRCm39)	S228P	probably benign	Het
Tmem135	A	G	7: 88,793,001 (GRCm39)	L411P	probably damaging	Het
Tnrc6c	T	C	11: 117,611,872 (GRCm39)	V170A	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
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
R6147:Gm12185	UTSW	11	48,806,717 (GRCm39)	missense	probably benign
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'- TCTTACTAAAGTAAAGGCCTGAGGC -3'
(R):5'- CTACTGAAGGAACTCCCAGC -3'

Sequencing Primer
(F):5'- GTGGTCCCCCAGTAACACAG -3'
(R):5'- GGAACTCCCAGCCCACAAG -3'

Posted On

2016-06-06