Mutagenetix > Incidental Mutations

Incidental Mutation 'R1165:2210408I21Rik'

100968

Institutional Source

Beutler Lab

Gene Symbol

2210408I21Rik

Ensembl Gene

ENSMUSG00000071252

Gene Name

RIKEN cDNA 2210408I21 gene

Synonyms

MMRRC Submission

039238-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77135540-77613784 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 77334287 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 1209 (C1209G)

Ref Sequence

ENSEMBL: ENSMUSP00000127449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168779]

Predicted Effect

probably benign
Transcript: ENSMUST00000168779
AA Change: C1209G

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: C1209G

Domain	Start	End	E-Value	Type
low complexity region	121	133	N/A	INTRINSIC
low complexity region	151	164	N/A	INTRINSIC
Pfam:DUF4495	515	832	1.6e-140	PFAM
low complexity region	1241	1255	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	C	17: 23,710,515		probably benign	Het
Abcg2	C	A	6: 58,678,300	L407I	probably benign	Het
Adtrp	A	G	13: 41,814,303	V56A	probably damaging	Het
Angptl6	T	G	9: 20,878,308	N96T	probably benign	Het
Ank3	C	A	10: 69,898,302	N780K	possibly damaging	Het
AU040320	A	T	4: 126,823,640		probably benign	Het
Best2	C	T	8: 85,011,160	R202H	probably benign	Het
Bod1l	A	T	5: 41,821,053	S973T	probably benign	Het
Brca2	T	A	5: 150,542,747	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563	P539L	probably benign	Het
Ccr1	A	T	9: 123,963,494	V333E	possibly damaging	Het
Celf5	A	T	10: 81,471,338	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275		probably benign	Het
Coro1b	C	A	19: 4,149,902	H81N	probably damaging	Het
Cwc22	A	T	2: 77,903,898	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,794,041	G45W	probably damaging	Het
Dysf	T	A	6: 84,067,069	N297K	probably damaging	Het
Edem1	T	A	6: 108,851,253	L513Q	probably damaging	Het
Erich1	G	A	8: 14,090,530		probably benign	Het
Fam196b	A	G	11: 34,402,740	T261A	probably benign	Het
Fam91a1	T	C	15: 58,430,669	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,271,782		probably benign	Het
Gas7	T	C	11: 67,670,686		probably benign	Het
Glb1l2	T	C	9: 26,794,101	D151G	probably damaging	Het
Gm14410	A	C	2: 177,193,489	Y327*	probably null	Het
H6pd	A	G	4: 149,995,956	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,764,164		probably benign	Het
Hipk1	T	C	3: 103,761,524	T519A	possibly damaging	Het
Hpd	A	G	5: 123,176,090		probably null	Het
Olfr371	T	A	8: 85,230,771	I92N	probably damaging	Het
Olfr809	A	G	10: 129,776,433	D188G	probably damaging	Het
Pcdha11	A	G	18: 37,007,704		probably benign	Het
Pdgfrb	T	C	18: 61,064,002	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,284,939	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,873,654	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Rtel1	A	G	2: 181,334,939	K243E	probably benign	Het
Slc19a2	G	A	1: 164,263,445	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,909,694		probably null	Het
Slc6a1	T	C	6: 114,311,829	F266L	probably damaging	Het
Snx25	T	G	8: 46,035,715	I868L	probably damaging	Het
Spag16	A	G	1: 69,996,877	I355V	probably benign	Het
Tmem198	A	T	1: 75,479,932		probably benign	Het
Traf3ip3	A	C	1: 193,184,478	S349A	probably damaging	Het
Trim17	A	G	11: 58,971,215	N358D	possibly damaging	Het
Trmu	A	G	15: 85,892,674	T196A	probably damaging	Het
Tsen2	A	G	6: 115,561,435	Y291C	probably damaging	Het
Vps13d	A	G	4: 145,126,471	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,947	H317R	probably benign	Het
Zfp120	A	T	2: 150,119,929	V33E	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het

Other mutations in 2210408I21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:2210408I21Rik	APN	13	77323358	splice site	probably benign
IGL01154:2210408I21Rik	APN	13	77281094	missense	probably benign	0.01
IGL01461:2210408I21Rik	APN	13	77281095	missense	probably benign	0.25
IGL01624:2210408I21Rik	APN	13	77193086	missense	probably damaging	0.99
IGL02033:2210408I21Rik	APN	13	77259876	missense	possibly damaging	0.90
IGL02621:2210408I21Rik	APN	13	77260031	missense	possibly damaging	0.92
IGL02718:2210408I21Rik	APN	13	77174872	missense	probably damaging	1.00
IGL02823:2210408I21Rik	APN	13	77261955	missense	probably damaging	0.96
IGL02859:2210408I21Rik	APN	13	77267699	missense	possibly damaging	0.71
IGL03006:2210408I21Rik	APN	13	77323772	critical splice donor site	probably null
IGL03072:2210408I21Rik	APN	13	77259997	missense	probably benign
IGL03184:2210408I21Rik	APN	13	77323451	missense	possibly damaging	0.63
IGL03275:2210408I21Rik	APN	13	77298555	missense	possibly damaging	0.71
PIT4651001:2210408I21Rik	UTSW	13	77259895	missense	probably benign
R0226:2210408I21Rik	UTSW	13	77303425	missense	possibly damaging	0.86
R0323:2210408I21Rik	UTSW	13	77298555	missense	possibly damaging	0.71
R0614:2210408I21Rik	UTSW	13	77192663	missense	probably benign	0.26
R0894:2210408I21Rik	UTSW	13	77323607	missense	probably benign	0.18
R1509:2210408I21Rik	UTSW	13	77192647	missense	probably benign
R1711:2210408I21Rik	UTSW	13	77269920	missense	possibly damaging	0.93
R1714:2210408I21Rik	UTSW	13	77316360	missense	possibly damaging	0.86
R1718:2210408I21Rik	UTSW	13	77245370	intron	probably benign
R1836:2210408I21Rik	UTSW	13	77323374	missense	probably benign	0.00
R1893:2210408I21Rik	UTSW	13	77267809	missense	possibly damaging	0.93
R2035:2210408I21Rik	UTSW	13	77612642	makesense	probably null
R2329:2210408I21Rik	UTSW	13	77303325	missense	probably benign	0.04
R2897:2210408I21Rik	UTSW	13	77323521	missense	probably benign	0.33
R3688:2210408I21Rik	UTSW	13	77267849	missense	possibly damaging	0.52
R4153:2210408I21Rik	UTSW	13	77193173	missense	probably benign	0.00
R4387:2210408I21Rik	UTSW	13	77316574	critical splice donor site	probably null
R4388:2210408I21Rik	UTSW	13	77316574	critical splice donor site	probably null
R4499:2210408I21Rik	UTSW	13	77316527	missense	possibly damaging	0.96
R4614:2210408I21Rik	UTSW	13	77254256	splice site	probably null
R4798:2210408I21Rik	UTSW	13	77323724	missense	possibly damaging	0.96
R4943:2210408I21Rik	UTSW	13	77245327	missense	possibly damaging	0.86
R5045:2210408I21Rik	UTSW	13	77267808	splice site	probably null
R5387:2210408I21Rik	UTSW	13	77259973	missense	probably benign	0.11
R5500:2210408I21Rik	UTSW	13	77303389	missense	probably benign	0.33
R5686:2210408I21Rik	UTSW	13	77303314	missense	possibly damaging	0.72
R6111:2210408I21Rik	UTSW	13	77327902	missense	possibly damaging	0.72
R6135:2210408I21Rik	UTSW	13	77254216	missense	probably damaging	0.98
R6188:2210408I21Rik	UTSW	13	77183731	missense	possibly damaging	0.53
R6388:2210408I21Rik	UTSW	13	77262111	missense	probably benign
R6588:2210408I21Rik	UTSW	13	77192647	missense	probably benign
R6632:2210408I21Rik	UTSW	13	77281067	missense	possibly damaging	0.86
R6638:2210408I21Rik	UTSW	13	77303402	missense	probably benign	0.07
R6755:2210408I21Rik	UTSW	13	77327875	missense	probably benign
R6971:2210408I21Rik	UTSW	13	77193187	missense	possibly damaging	0.90
R7079:2210408I21Rik	UTSW	13	77254204	missense	possibly damaging	0.86
R7130:2210408I21Rik	UTSW	13	77269902	missense	possibly damaging	0.93
R7215:2210408I21Rik	UTSW	13	77323571	missense	possibly damaging	0.96
R7272:2210408I21Rik	UTSW	13	77323536	missense	probably benign	0.00
R7331:2210408I21Rik	UTSW	13	77183609	missense	possibly damaging	0.53
R7561:2210408I21Rik	UTSW	13	77193195	missense	probably benign
R7684:2210408I21Rik	UTSW	13	77612540	nonsense	probably null
R7728:2210408I21Rik	UTSW	13	77316477	missense	possibly damaging	0.96
R7881:2210408I21Rik	UTSW	13	77323566	missense	possibly damaging	0.53
R7963:2210408I21Rik	UTSW	13	77192554	missense	probably benign	0.02
R8008:2210408I21Rik	UTSW	13	77281115	missense	probably benign	0.28
R8024:2210408I21Rik	UTSW	13	77612594	missense	probably benign
R8170:2210408I21Rik	UTSW	13	77263594	missense	probably benign	0.06
R8201:2210408I21Rik	UTSW	13	77193159	missense	possibly damaging	0.72
R8255:2210408I21Rik	UTSW	13	77267731	missense	possibly damaging	0.71
R8296:2210408I21Rik	UTSW	13	77267777	missense	probably damaging	0.98
R8476:2210408I21Rik	UTSW	13	77261901	missense	possibly damaging	0.92
R8526:2210408I21Rik	UTSW	13	77269816	nonsense	probably null
R8746:2210408I21Rik	UTSW	13	77303410	missense	probably benign	0.01
R8812:2210408I21Rik	UTSW	13	77332352	missense	probably damaging	0.98
R8870:2210408I21Rik	UTSW	13	77323721	missense	possibly damaging	0.96
R8885:2210408I21Rik	UTSW	13	77323406	missense	possibly damaging	0.91
R8910:2210408I21Rik	UTSW	13	77323649	missense	probably benign	0.03
R8911:2210408I21Rik	UTSW	13	77281115	missense	probably benign	0.28
X0066:2210408I21Rik	UTSW	13	77183640	missense	possibly damaging	0.72
Z1088:2210408I21Rik	UTSW	13	77174891	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15