Mutagenetix > Incidental Mutation

Incidental Mutation 'R4153:2210408I21Rik'

315005

Institutional Source

Beutler Lab

Gene Symbol

2210408I21Rik

Ensembl Gene

ENSMUSG00000071252

Gene Name

RIKEN cDNA 2210408I21 gene

Synonyms

MMRRC Submission

040997-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4153 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77283659-77761903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77341292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 47 (V47A)

Ref Sequence

ENSEMBL: ENSMUSP00000153269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168779] [ENSMUST00000225605] [ENSMUST00000225760]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000168779
AA Change: V307A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: V307A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225605
AA Change: V307A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000225760
AA Change: V47A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Meta Mutation Damage Score

0.0669

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,498,941 (GRCm39)		probably benign	Het
Acat2	T	A	17: 13,171,153 (GRCm39)	H159L	possibly damaging	Het
Acsl5	A	G	19: 55,269,895 (GRCm39)	E253G	probably benign	Het
Adam34l	T	A	8: 44,079,564 (GRCm39)	Y220F	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Ebf2	T	G	14: 67,472,672 (GRCm39)	V30G	probably damaging	Het
Erlin1	T	A	19: 44,056,056 (GRCm39)	T60S	probably benign	Het
Fanca	A	G	8: 124,031,617 (GRCm39)	V358A	possibly damaging	Het
Fastkd3	T	C	13: 68,738,257 (GRCm39)	F602S	probably damaging	Het
Fras1	C	A	5: 96,924,594 (GRCm39)	N3678K	probably benign	Het
Gopc	T	C	10: 52,225,239 (GRCm39)	I277V	probably damaging	Het
Gpd2	A	G	2: 57,245,783 (GRCm39)	T438A	probably damaging	Het
Gzma	T	C	13: 113,232,802 (GRCm39)	K97E	possibly damaging	Het
Gzmn	T	A	14: 56,405,299 (GRCm39)	T62S	probably damaging	Het
Hip1	T	C	5: 135,441,560 (GRCm39)	E570G	probably damaging	Het
Hs3st6	T	C	17: 24,977,339 (GRCm39)	V273A	possibly damaging	Het
Jarid2	C	A	13: 45,063,902 (GRCm39)	S873R	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Mast2	T	C	4: 116,173,160 (GRCm39)	N548S	possibly damaging	Het
Mthfr	G	T	4: 148,135,932 (GRCm39)	R335L	probably damaging	Het
Ndst3	T	C	3: 123,465,876 (GRCm39)	Y32C	probably damaging	Het
Nwd1	T	C	8: 73,408,564 (GRCm39)	L808P	probably damaging	Het
Or52b1	T	C	7: 104,978,592 (GRCm39)	N269S	probably damaging	Het
Or56a3b	A	T	7: 104,771,516 (GRCm39)	H284L	probably damaging	Het
Or8g52	A	C	9: 39,631,296 (GRCm39)	M258L	probably benign	Het
Pgk2	A	G	17: 40,519,149 (GRCm39)	V93A	probably damaging	Het
Pigk	G	A	3: 152,445,766 (GRCm39)	V126I	probably damaging	Het
Plcl2	A	T	17: 50,913,389 (GRCm39)	K133*	probably null	Het
Pofut2	A	G	10: 77,104,500 (GRCm39)	K426E	probably benign	Het
Rbpj	T	A	5: 53,806,789 (GRCm39)	H230Q	probably damaging	Het
Rnf213	A	G	11: 119,300,308 (GRCm39)	K269E	probably benign	Het
Shh	A	T	5: 28,662,947 (GRCm39)	I407N	probably damaging	Het
Sntg1	A	T	1: 8,653,569 (GRCm39)		probably null	Het
Svep1	A	T	4: 58,089,426 (GRCm39)	F1661Y	possibly damaging	Het
Tep1	G	A	14: 51,075,051 (GRCm39)	H1755Y	possibly damaging	Het
Thrap3	A	C	4: 126,067,235 (GRCm39)		probably null	Het
Thumpd1	C	T	7: 119,319,816 (GRCm39)	C50Y	probably damaging	Het
Tmem131	T	C	1: 36,847,874 (GRCm39)		probably benign	Het
Tnrc18	T	C	5: 142,751,747 (GRCm39)	D1368G	possibly damaging	Het
Tubd1	G	A	11: 86,440,296 (GRCm39)	G107S	probably damaging	Het
Ugt1a6a	A	G	1: 88,066,193 (GRCm39)		probably null	Het
Uty	A	G	Y: 1,158,327 (GRCm39)	V572A	possibly damaging	Het
Vmn1r171	A	G	7: 23,332,077 (GRCm39)	K89E	probably damaging	Het
Vmn2r100	AAAACAGGAGTATTGATTGGAAAC	AAAAC	17: 19,743,681 (GRCm39)		probably null	Het
Vmn2r106	A	G	17: 20,488,080 (GRCm39)	L773P	probably damaging	Het
Vps13b	T	A	15: 35,792,173 (GRCm39)		probably null	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
R0226:2210408I21Rik	UTSW	13	77,451,544 (GRCm39)	missense	possibly damaging	0.86
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
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

PCR Primer
(F):5'- TCCTTCGTGCAACAGAGAATC -3'
(R):5'- TCAAGAGTTGATTTACGCTCTGG -3'

Sequencing Primer
(F):5'- GTGTGTGGATACCAAAGTACTATGC -3'
(R):5'- ACGCTCTGGTTTATTTTGCAATG -3'

Posted On

2015-05-14