Mutagenetix > Incidental Mutation

Incidental Mutation 'R5500:2210408I21Rik'

430576

Institutional Source

Beutler Lab

Gene Symbol

2210408I21Rik

Ensembl Gene

ENSMUSG00000071252

Gene Name

RIKEN cDNA 2210408I21 gene

Synonyms

MMRRC Submission

043061-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5500 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77283659-77761903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77451508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 864 (Q864L)

Ref Sequence

ENSEMBL: ENSMUSP00000127449 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000168779
AA Change: Q864L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: Q864L

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

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	A	G	2: 34,990,650 (GRCm39)	S16P	probably damaging	Het
Amy1	A	T	3: 113,356,371 (GRCm39)	Y262N	probably damaging	Het
Cdh23	T	C	10: 60,150,090 (GRCm39)	D2583G	probably damaging	Het
Ddx60	A	G	8: 62,403,485 (GRCm39)	K303E	probably benign	Het
Dis3l2	T	C	1: 86,948,841 (GRCm39)		probably null	Het
Evi5l	T	A	8: 4,241,658 (GRCm39)	M329K	probably damaging	Het
Fam169b	A	G	7: 68,000,117 (GRCm39)	D221G	probably damaging	Het
Farsb	T	C	1: 78,447,761 (GRCm39)	D126G	probably damaging	Het
Gm4847	A	G	1: 166,462,611 (GRCm39)	I293T	probably damaging	Het
Ighmbp2	T	C	19: 3,318,687 (GRCm39)	H463R	possibly damaging	Het
Iigp1c	G	A	18: 60,379,092 (GRCm39)	R209H	probably damaging	Het
Kank1	A	T	19: 25,401,696 (GRCm39)	D1101V	possibly damaging	Het
Kcnh8	G	A	17: 53,033,008 (GRCm39)	M98I	probably benign	Het
Kdsr	A	G	1: 106,687,374 (GRCm39)		probably benign	Het
Kif18b	A	T	11: 102,806,526 (GRCm39)	V107E	probably damaging	Het
Klhl41	A	G	2: 69,513,873 (GRCm39)	E584G	probably damaging	Het
Kpnb1	G	A	11: 97,063,937 (GRCm39)	A389V	possibly damaging	Het
Krtap31-2	A	G	11: 99,827,173 (GRCm39)	T2A	possibly damaging	Het
Lama3	A	T	18: 12,589,821 (GRCm39)	I784F	possibly damaging	Het
Lpar1	G	A	4: 58,486,573 (GRCm39)	R233C	probably benign	Het
Neb	C	A	2: 52,052,079 (GRCm39)		probably null	Het
Neo1	A	G	9: 58,824,337 (GRCm39)	I697T	possibly damaging	Het
Ntaq1	T	C	15: 58,016,006 (GRCm39)	V85A	possibly damaging	Het
Pgm2l1	T	G	7: 99,917,340 (GRCm39)	S486A	probably benign	Het
Prpf40a	A	T	2: 53,035,296 (GRCm39)	S748R	probably benign	Het
Recql4	A	G	15: 76,589,778 (GRCm39)		probably benign	Het
Rhbdl1	T	C	17: 26,055,528 (GRCm39)	T20A	possibly damaging	Het
Ric8a	T	C	7: 140,438,228 (GRCm39)	Y156H	probably benign	Het
Rnf111	C	A	9: 70,383,325 (GRCm39)	G203C	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc2a12	G	A	10: 22,541,036 (GRCm39)	G297E	probably damaging	Het
Slc35f1	A	T	10: 52,809,318 (GRCm39)	I102F	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slitrk3	T	C	3: 72,957,680 (GRCm39)	Y364C	probably damaging	Het
Tdrd9	T	C	12: 111,989,702 (GRCm39)	Y505H	probably benign	Het
Tlr1	G	T	5: 65,084,441 (GRCm39)	D45E	probably benign	Het
Upp1	G	A	11: 9,081,774 (GRCm39)	V104M	probably damaging	Het
Usp9y	A	G	Y: 1,341,875 (GRCm39)	V1330A	probably damaging	Het
Zbed5	T	A	5: 129,930,823 (GRCm39)	Y257*	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
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
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'- TCAACTGCACTAAGAAGCAAGTG -3'
(R):5'- CCAAACAGAAGCTCTATAAGATGCATG -3'

Sequencing Primer
(F):5'- CTGCACTAAGAAGCAAGTGTATGTC -3'
(R):5'- TTTACAAACAAGAGTCAGAAAAGCTC -3'

Posted On

2016-10-05