Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:2210408I21Rik'

33957

Institutional Source

Beutler Lab

Gene Symbol

2210408I21Rik

Ensembl Gene

ENSMUSG00000071252

Gene Name

RIKEN cDNA 2210408I21 gene

Synonyms

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0226 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

77283659-77761903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77451544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 876 (E876V)

Ref Sequence

ENSEMBL: ENSMUSP00000127449 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168779
AA Change: E876V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: E876V

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

0.1272

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,379,569 (GRCm39)	T54K	possibly damaging	Het
Aasdh	A	T	5: 77,049,849 (GRCm39)	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,847,844 (GRCm39)		probably null	Het
Ablim1	A	T	19: 57,032,302 (GRCm39)	L556Q	probably damaging	Het
Afdn	A	G	17: 14,119,408 (GRCm39)	T1700A	probably benign	Het
Agl	G	A	3: 116,545,720 (GRCm39)	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,113,863 (GRCm39)	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,577,586 (GRCm39)	C180*	probably null	Het
Aim2	A	G	1: 173,289,899 (GRCm39)		probably benign	Het
Angpt1	T	C	15: 42,331,631 (GRCm39)	N320S	probably benign	Het
Ankrd52	T	A	10: 128,225,727 (GRCm39)		probably null	Het
Ap1g1	C	T	8: 110,581,694 (GRCm39)	S654L	probably benign	Het
Bpifa1	T	A	2: 153,987,977 (GRCm39)	S173R	probably benign	Het
Brd8	T	C	18: 34,736,947 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,381,670 (GRCm39)	T161A	probably benign	Het
Car6	T	C	4: 150,271,965 (GRCm39)	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,557,559 (GRCm39)	L273P	probably damaging	Het
Cit	G	A	5: 116,122,899 (GRCm39)	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,169,638 (GRCm39)	L48P	probably damaging	Het
Cttn	A	G	7: 143,995,589 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,743,619 (GRCm39)		probably benign	Het
Dtnbp1	A	G	13: 45,076,669 (GRCm39)	L175P	probably damaging	Het
Efl1	T	C	7: 82,342,219 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,162,830 (GRCm39)	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,751,061 (GRCm39)	S665T	probably benign	Het
Gm9843	A	T	16: 76,200,449 (GRCm39)		noncoding transcript	Het
Gpr155	C	T	2: 73,197,936 (GRCm39)	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076 (GRCm39)		probably benign	Het
Hdgfl1	A	T	13: 26,953,979 (GRCm39)	H31Q	probably benign	Het
Heatr1	T	C	13: 12,425,443 (GRCm39)	S628P	probably damaging	Het
Hivep2	A	G	10: 14,005,456 (GRCm39)	T685A	probably benign	Het
Hmgcl	T	G	4: 135,686,039 (GRCm39)	V168G	probably damaging	Het
Itch	T	C	2: 155,041,314 (GRCm39)	I454T	probably benign	Het
Itih2	T	C	2: 10,120,110 (GRCm39)	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,819,935 (GRCm39)	I304V	probably benign	Het
Kcnh1	G	A	1: 191,959,112 (GRCm39)	W222*	probably null	Het
Kcnh1	G	T	1: 191,959,113 (GRCm39)	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939 (GRCm39)	K287*	probably null	Het
Lrig3	A	G	10: 125,807,986 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,367,907 (GRCm39)	C202S	probably null	Het
Lrrc37	A	T	11: 103,494,067 (GRCm39)	F663L	probably benign	Het
Lrrn2	A	G	1: 132,865,558 (GRCm39)	N208D	probably damaging	Het
Mcm5	C	T	8: 75,852,880 (GRCm39)	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,791,790 (GRCm39)	L365S	probably benign	Het
Mfsd6	A	G	1: 52,697,849 (GRCm39)		probably benign	Het
Mgat4e	A	G	1: 134,468,841 (GRCm39)	V401A	probably benign	Het
Mllt3	C	A	4: 87,758,969 (GRCm39)	V360L	probably benign	Het
Mrm1	G	A	11: 84,709,996 (GRCm39)	A68V	possibly damaging	Het
Myo19	A	G	11: 84,788,558 (GRCm39)		probably benign	Het
Myo3b	A	G	2: 70,047,510 (GRCm39)	T311A	probably benign	Het
Myo5b	T	C	18: 74,875,251 (GRCm39)	F1552L	probably benign	Het
Myo7b	C	T	18: 32,105,949 (GRCm39)	V1353I	probably benign	Het
Myo9b	T	C	8: 71,806,476 (GRCm39)	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,329,988 (GRCm39)	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,685,641 (GRCm39)	S703P	probably damaging	Het
Pclo	T	C	5: 14,815,237 (GRCm39)	I1231T	probably damaging	Het
Pex16	A	C	2: 92,206,032 (GRCm39)		probably benign	Het
Pfkl	T	C	10: 77,828,368 (GRCm39)	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,390,180 (GRCm39)	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,332,692 (GRCm39)	T106S	probably benign	Het
Prrc1	A	G	18: 57,496,363 (GRCm39)	M105V	probably benign	Het
Psg26	A	G	7: 18,217,883 (GRCm39)	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,622,263 (GRCm39)	S455C	probably damaging	Het
Ryr2	T	C	13: 11,787,442 (GRCm39)	K977R	probably damaging	Het
Sart1	C	T	19: 5,431,150 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,998,167 (GRCm39)	S509G	probably benign	Het
Sin3b	A	T	8: 73,471,136 (GRCm39)	E361V	probably benign	Het
Slc35e3	C	T	10: 117,576,795 (GRCm39)	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,728,215 (GRCm39)	S388P	probably damaging	Het
Srms	A	G	2: 180,854,175 (GRCm39)	S131P	probably benign	Het
Sting1	A	T	18: 35,872,141 (GRCm39)	F120L	probably benign	Het
Stxbp5	T	C	10: 9,742,442 (GRCm39)		probably benign	Het
Taar2	T	C	10: 23,816,961 (GRCm39)	V167A	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,899 (GRCm39)	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,544,513 (GRCm39)		probably benign	Het
Tnfaip3	T	C	10: 18,878,495 (GRCm39)	K771R	probably damaging	Het
Treml1	C	T	17: 48,667,486 (GRCm39)	L124F	probably damaging	Het
Ttn	G	T	2: 76,611,141 (GRCm39)	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,449,685 (GRCm39)	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,402,508 (GRCm39)	V248L	possibly damaging	Het
Vps35	T	C	8: 86,000,204 (GRCm39)	Q474R	probably damaging	Het
Wdr17	T	A	8: 55,116,043 (GRCm39)	T580S	probably benign	Het
Xpnpep1	T	C	19: 52,998,583 (GRCm39)	K222E	probably benign	Het
Ylpm1	A	G	12: 85,096,511 (GRCm39)	T1446A	probably benign	Het
Zfp277	A	G	12: 40,414,161 (GRCm39)	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,393,188 (GRCm39)	K57M	probably damaging	Het
Zmpste24	A	T	4: 120,938,406 (GRCm39)	S244R	probably benign	Het

Other mutations in 2210408I21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:2210408I21Rik	APN	13	77,471,477 (GRCm39)	splice site	probably benign
IGL01154:2210408I21Rik	APN	13	77,429,213 (GRCm39)	missense	probably benign	0.01
IGL01461:2210408I21Rik	APN	13	77,429,214 (GRCm39)	missense	probably benign	0.25
IGL01624:2210408I21Rik	APN	13	77,341,205 (GRCm39)	missense	probably damaging	0.99
IGL02033:2210408I21Rik	APN	13	77,407,995 (GRCm39)	missense	possibly damaging	0.90
IGL02621:2210408I21Rik	APN	13	77,408,150 (GRCm39)	missense	possibly damaging	0.92
IGL02718:2210408I21Rik	APN	13	77,322,991 (GRCm39)	missense	probably damaging	1.00
IGL02823:2210408I21Rik	APN	13	77,410,074 (GRCm39)	missense	probably damaging	0.96
IGL02859:2210408I21Rik	APN	13	77,415,818 (GRCm39)	missense	possibly damaging	0.71
IGL03006:2210408I21Rik	APN	13	77,471,891 (GRCm39)	critical splice donor site	probably null
IGL03072:2210408I21Rik	APN	13	77,408,116 (GRCm39)	missense	probably benign
IGL03184:2210408I21Rik	APN	13	77,471,570 (GRCm39)	missense	possibly damaging	0.63
IGL03275:2210408I21Rik	APN	13	77,446,674 (GRCm39)	missense	possibly damaging	0.71
PIT4651001:2210408I21Rik	UTSW	13	77,408,014 (GRCm39)	missense	probably benign
R0323:2210408I21Rik	UTSW	13	77,446,674 (GRCm39)	missense	possibly damaging	0.71
R0614:2210408I21Rik	UTSW	13	77,340,782 (GRCm39)	missense	probably benign	0.26
R0894:2210408I21Rik	UTSW	13	77,471,726 (GRCm39)	missense	probably benign	0.18
R1165:2210408I21Rik	UTSW	13	77,482,406 (GRCm39)	missense	probably benign	0.06
R1509:2210408I21Rik	UTSW	13	77,340,766 (GRCm39)	missense	probably benign
R1711:2210408I21Rik	UTSW	13	77,418,039 (GRCm39)	missense	possibly damaging	0.93
R1714:2210408I21Rik	UTSW	13	77,464,479 (GRCm39)	missense	possibly damaging	0.86
R1718:2210408I21Rik	UTSW	13	77,393,489 (GRCm39)	intron	probably benign
R1836:2210408I21Rik	UTSW	13	77,471,493 (GRCm39)	missense	probably benign	0.00
R1893:2210408I21Rik	UTSW	13	77,415,928 (GRCm39)	missense	possibly damaging	0.93
R2035:2210408I21Rik	UTSW	13	77,760,761 (GRCm39)	makesense	probably null
R2329:2210408I21Rik	UTSW	13	77,451,444 (GRCm39)	missense	probably benign	0.04
R2897:2210408I21Rik	UTSW	13	77,471,640 (GRCm39)	missense	probably benign	0.33
R3688:2210408I21Rik	UTSW	13	77,415,968 (GRCm39)	missense	possibly damaging	0.52
R4153:2210408I21Rik	UTSW	13	77,341,292 (GRCm39)	missense	probably benign	0.00
R4387:2210408I21Rik	UTSW	13	77,464,693 (GRCm39)	critical splice donor site	probably null
R4388:2210408I21Rik	UTSW	13	77,464,693 (GRCm39)	critical splice donor site	probably null
R4499:2210408I21Rik	UTSW	13	77,464,646 (GRCm39)	missense	possibly damaging	0.96
R4614:2210408I21Rik	UTSW	13	77,402,375 (GRCm39)	splice site	probably null
R4798:2210408I21Rik	UTSW	13	77,471,843 (GRCm39)	missense	possibly damaging	0.96
R4943:2210408I21Rik	UTSW	13	77,393,446 (GRCm39)	missense	possibly damaging	0.86
R5045:2210408I21Rik	UTSW	13	77,415,927 (GRCm39)	splice site	probably null
R5387:2210408I21Rik	UTSW	13	77,408,092 (GRCm39)	missense	probably benign	0.11
R5500:2210408I21Rik	UTSW	13	77,451,508 (GRCm39)	missense	probably benign	0.33
R5686:2210408I21Rik	UTSW	13	77,451,433 (GRCm39)	missense	possibly damaging	0.72
R6111:2210408I21Rik	UTSW	13	77,476,021 (GRCm39)	missense	possibly damaging	0.72
R6135:2210408I21Rik	UTSW	13	77,402,335 (GRCm39)	missense	probably damaging	0.98
R6188:2210408I21Rik	UTSW	13	77,331,850 (GRCm39)	missense	possibly damaging	0.53
R6388:2210408I21Rik	UTSW	13	77,410,230 (GRCm39)	missense	probably benign
R6588:2210408I21Rik	UTSW	13	77,340,766 (GRCm39)	missense	probably benign
R6632:2210408I21Rik	UTSW	13	77,429,186 (GRCm39)	missense	possibly damaging	0.86
R6638:2210408I21Rik	UTSW	13	77,451,521 (GRCm39)	missense	probably benign	0.07
R6755:2210408I21Rik	UTSW	13	77,475,994 (GRCm39)	missense	probably benign
R6971:2210408I21Rik	UTSW	13	77,341,306 (GRCm39)	missense	possibly damaging	0.90
R7079:2210408I21Rik	UTSW	13	77,402,323 (GRCm39)	missense	possibly damaging	0.86
R7130:2210408I21Rik	UTSW	13	77,418,021 (GRCm39)	missense	possibly damaging	0.93
R7215:2210408I21Rik	UTSW	13	77,471,690 (GRCm39)	missense	possibly damaging	0.96
R7272:2210408I21Rik	UTSW	13	77,471,655 (GRCm39)	missense	probably benign	0.00
R7331:2210408I21Rik	UTSW	13	77,331,728 (GRCm39)	missense	possibly damaging	0.53
R7561:2210408I21Rik	UTSW	13	77,341,314 (GRCm39)	missense	probably benign
R7684:2210408I21Rik	UTSW	13	77,760,659 (GRCm39)	nonsense	probably null
R7728:2210408I21Rik	UTSW	13	77,464,596 (GRCm39)	missense	possibly damaging	0.96
R7881:2210408I21Rik	UTSW	13	77,471,685 (GRCm39)	missense	possibly damaging	0.53
R7963:2210408I21Rik	UTSW	13	77,340,673 (GRCm39)	missense	probably benign	0.02
R8008:2210408I21Rik	UTSW	13	77,429,234 (GRCm39)	missense	probably benign	0.28
R8024:2210408I21Rik	UTSW	13	77,760,713 (GRCm39)	missense	probably benign
R8170:2210408I21Rik	UTSW	13	77,411,713 (GRCm39)	missense	probably benign	0.06
R8201:2210408I21Rik	UTSW	13	77,341,278 (GRCm39)	missense	possibly damaging	0.72
R8255:2210408I21Rik	UTSW	13	77,415,850 (GRCm39)	missense	possibly damaging	0.71
R8296:2210408I21Rik	UTSW	13	77,415,896 (GRCm39)	missense	probably damaging	0.98
R8476:2210408I21Rik	UTSW	13	77,410,020 (GRCm39)	missense	possibly damaging	0.92
R8526:2210408I21Rik	UTSW	13	77,417,935 (GRCm39)	nonsense	probably null
R8746:2210408I21Rik	UTSW	13	77,451,529 (GRCm39)	missense	probably benign	0.01
R8812:2210408I21Rik	UTSW	13	77,480,471 (GRCm39)	missense	probably damaging	0.98
R8870:2210408I21Rik	UTSW	13	77,471,840 (GRCm39)	missense	possibly damaging	0.96
R8885:2210408I21Rik	UTSW	13	77,471,525 (GRCm39)	missense	possibly damaging	0.91
R8910:2210408I21Rik	UTSW	13	77,471,768 (GRCm39)	missense	probably benign	0.03
R8911:2210408I21Rik	UTSW	13	77,429,234 (GRCm39)	missense	probably benign	0.28
R8965:2210408I21Rik	UTSW	13	77,760,723 (GRCm39)	missense	probably benign	0.02
R8968:2210408I21Rik	UTSW	13	77,480,429 (GRCm39)	nonsense	probably null
R8989:2210408I21Rik	UTSW	13	77,760,724 (GRCm39)	missense	probably benign	0.01
R9163:2210408I21Rik	UTSW	13	77,393,400 (GRCm39)	missense	possibly damaging	0.73
R9378:2210408I21Rik	UTSW	13	77,471,735 (GRCm39)	missense	possibly damaging	0.53
R9478:2210408I21Rik	UTSW	13	77,451,573 (GRCm39)	missense	possibly damaging	0.53
R9523:2210408I21Rik	UTSW	13	77,407,988 (GRCm39)	missense	possibly damaging	0.53
R9595:2210408I21Rik	UTSW	13	77,464,566 (GRCm39)	missense	probably benign
X0066:2210408I21Rik	UTSW	13	77,331,759 (GRCm39)	missense	possibly damaging	0.72
Z1088:2210408I21Rik	UTSW	13	77,323,010 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-05-09