Mutagenetix > Incidental Mutation

Incidental Mutation 'R3014:Gm10220'

257590

Institutional Source

Beutler Lab

Gene Symbol

Gm10220

Ensembl Gene

ENSMUSG00000067698

Gene Name

predicted gene 10220

Synonyms

MMRRC Submission

040535-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.437) question?

Stock #

R3014 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

26319762-26326419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 26322826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 195 (D195E)

Ref Sequence

ENSEMBL: ENSMUSP00000085569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088236]

AlphaFold

K7N660

Predicted Effect

probably damaging
Transcript: ENSMUST00000088236
AA Change: D195E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085569
Gene: ENSMUSG00000067698
AA Change: D195E

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	1.6e-25	PFAM
low complexity region	235	259	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt4	G	T	2: 151,771,517 (GRCm39)	V278L	probably benign	Het
Dmbt1	A	G	7: 130,633,827 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,321,304 (GRCm39)	N3921K	probably benign	Het
Duxf4	G	A	10: 58,071,356 (GRCm39)	T286I	possibly damaging	Het
Fam193a	A	T	5: 34,623,016 (GRCm39)	E1201D	probably benign	Het
Gmps	A	G	3: 63,922,857 (GRCm39)	K607E	possibly damaging	Het
Gprin1	T	A	13: 54,886,288 (GRCm39)	D662V	probably benign	Het
Gria4	A	G	9: 4,464,294 (GRCm39)	I556T	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hcar2	A	T	5: 124,002,768 (GRCm39)	V245E	probably damaging	Het
Hmces	T	G	6: 87,894,823 (GRCm39)	D62E	probably benign	Het
Ighv1-4	T	A	12: 114,450,769 (GRCm39)	Y113F	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kng1	C	T	16: 22,898,120 (GRCm39)	H507Y	possibly damaging	Het
Lypd10	A	G	7: 24,412,821 (GRCm39)	I76M	possibly damaging	Het
Map3k5	A	T	10: 19,970,175 (GRCm39)	Y694F	probably damaging	Het
Myo1a	T	G	10: 127,552,214 (GRCm39)	F778V	probably damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or1ad1	A	G	11: 50,875,534 (GRCm39)	D2G	probably benign	Het
Or4l1	G	A	14: 50,166,489 (GRCm39)	H171Y	probably benign	Het
Or6aa1	A	G	7: 86,043,884 (GRCm39)	V274A	probably benign	Het
Or6z6	A	T	7: 6,491,470 (GRCm39)	Y134*	probably null	Het
Parp3	C	A	9: 106,348,514 (GRCm39)	S507I	possibly damaging	Het
Ppip5k2	T	A	1: 97,671,800 (GRCm39)	T491S	probably damaging	Het
Psmg1	T	A	16: 95,781,248 (GRCm39)	I266F	probably damaging	Het
Ptpn23	T	C	9: 110,218,763 (GRCm39)	T476A	probably benign	Het
Rttn	G	C	18: 89,032,744 (GRCm39)	V671L	probably damaging	Het
Srsf7	T	C	17: 80,508,990 (GRCm39)	E235G	unknown	Het
Sv2a	G	A	3: 96,096,751 (GRCm39)	W416*	probably null	Het
Tas2r107	A	G	6: 131,636,972 (GRCm39)	Y26H	probably benign	Het
Tenm2	T	C	11: 35,914,800 (GRCm39)	T2245A	probably damaging	Het
Vmn2r13	T	A	5: 109,319,627 (GRCm39)	H451L	possibly damaging	Het
Xkr6	T	C	14: 64,056,793 (GRCm39)	Y235H	unknown	Het

Other mutations in Gm10220

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Gm10220	APN	5	26,323,609 (GRCm39)	missense	possibly damaging	0.94
IGL01782:Gm10220	APN	5	26,322,021 (GRCm39)	missense	probably damaging	1.00
IGL03194:Gm10220	APN	5	26,326,231 (GRCm39)	missense	probably damaging	1.00
IGL03218:Gm10220	APN	5	26,323,696 (GRCm39)	missense	probably damaging	0.99
IGL03255:Gm10220	APN	5	26,321,899 (GRCm39)	missense	possibly damaging	0.93
R3883:Gm10220	UTSW	5	26,321,908 (GRCm39)	missense	possibly damaging	0.70
R4577:Gm10220	UTSW	5	26,322,869 (GRCm39)	missense	probably benign
R5484:Gm10220	UTSW	5	26,322,930 (GRCm39)	missense	possibly damaging	0.59
R6358:Gm10220	UTSW	5	26,325,303 (GRCm39)	splice site	probably null
R8300:Gm10220	UTSW	5	26,322,818 (GRCm39)	missense	probably damaging	0.99
R8871:Gm10220	UTSW	5	26,322,863 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGCTACATTCCATGAGGAGG -3'
(R):5'- CAGGGTACAGGTCAGGTTAATG -3'

Sequencing Primer
(F):5'- CTACATTCCATGAGGAGGGTGGC -3'
(R):5'- AGGAGGCTGCAGGATCTTACTATG -3'

Posted On

2015-01-11