Mutagenetix > Incidental Mutation

Incidental Mutation 'R4499:2210408I21Rik'

331766

Institutional Source

Beutler Lab

Gene Symbol

2210408I21Rik

Ensembl Gene

ENSMUSG00000071252

Gene Name

RIKEN cDNA 2210408I21 gene

Synonyms

MMRRC Submission

041752-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77283659-77761903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77464646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 948 (W948R)

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: W948R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: W948R

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

0.1562

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (47/51)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	C	5: 137,290,194 (GRCm39)	M508L	probably damaging	Het
Adgrb2	A	T	4: 129,886,454 (GRCm39)	E198V	probably damaging	Het
Adgrl4	A	G	3: 151,216,422 (GRCm39)	N535S	possibly damaging	Het
Agbl3	T	C	6: 34,834,533 (GRCm39)	S906P	probably benign	Het
Akna	T	C	4: 63,313,278 (GRCm39)	T282A	probably benign	Het
Arfgef2	G	A	2: 166,727,734 (GRCm39)	V1561M	probably damaging	Het
Arfgef3	T	C	10: 18,484,091 (GRCm39)	D1388G	possibly damaging	Het
Asnsd1	A	G	1: 53,387,129 (GRCm39)	V166A	probably benign	Het
Bank1	T	C	3: 135,990,004 (GRCm39)	I29V	probably benign	Het
Bpifb5	A	T	2: 154,082,678 (GRCm39)	I484F	possibly damaging	Het
Camta2	T	C	11: 70,565,512 (GRCm39)	E788G	probably damaging	Het
Ccdc18	T	G	5: 108,376,826 (GRCm39)	S1422R	possibly damaging	Het
Cdc42bpg	C	T	19: 6,370,585 (GRCm39)	P1226L	possibly damaging	Het
Cep126	T	C	9: 8,101,589 (GRCm39)	N315S	possibly damaging	Het
Dcaf4	T	A	12: 83,586,134 (GRCm39)	L367Q	probably damaging	Het
Dcc	A	T	18: 71,680,388 (GRCm39)	V616D	probably benign	Het
Dennd4a	G	A	9: 64,817,405 (GRCm39)	D1680N	possibly damaging	Het
Dgkq	C	G	5: 108,797,527 (GRCm39)	E788D	possibly damaging	Het
Dpep2	T	C	8: 106,712,114 (GRCm39)	E282G	probably benign	Het
Gm8221	T	A	15: 77,510,245 (GRCm39)		noncoding transcript	Het
Ice1	T	C	13: 70,757,146 (GRCm39)	S280G	possibly damaging	Het
Lrrc2	A	T	9: 110,791,713 (GRCm39)	Q155L	probably benign	Het
Mesd	G	A	7: 83,547,185 (GRCm39)	R216Q	probably benign	Het
Msh6	T	A	17: 88,287,697 (GRCm39)	N112K	probably damaging	Het
Myo15b	A	G	11: 115,781,778 (GRCm39)	E307G	probably benign	Het
Nod1	T	A	6: 54,920,981 (GRCm39)	N446Y	probably damaging	Het
Nrap	G	A	19: 56,339,913 (GRCm39)	T787I	probably damaging	Het
P2ry12	A	G	3: 59,125,078 (GRCm39)	I199T	probably damaging	Het
Prr11	T	G	11: 86,989,533 (GRCm39)	K279N	possibly damaging	Het
Psg25	C	T	7: 18,258,816 (GRCm39)	E287K	possibly damaging	Het
Rusc1	T	C	3: 88,999,615 (GRCm39)	S56G	probably benign	Het
Slc16a7	T	C	10: 125,064,056 (GRCm39)	N427S	probably damaging	Het
Slc47a1	T	A	11: 61,250,355 (GRCm39)	I341L	probably benign	Het
Slc9a8	T	A	2: 167,266,113 (GRCm39)	L30Q	probably benign	Het
Ssh2	T	A	11: 77,283,893 (GRCm39)	L49*	probably null	Het
Stard9	T	A	2: 120,530,722 (GRCm39)	D2326E	probably benign	Het
Thbs1	T	C	2: 117,950,431 (GRCm39)	I688T	possibly damaging	Het
Ttn	T	A	2: 76,746,822 (GRCm39)	E4742D	probably benign	Het
Vps37b	T	C	5: 124,145,689 (GRCm39)	I117V	probably damaging	Het
Xirp2	A	T	2: 67,343,782 (GRCm39)	M2008L	probably benign	Het
Zfp1005	T	G	2: 150,111,362 (GRCm39)	V684G	possibly damaging	Het
Zfp53	A	G	17: 21,729,497 (GRCm39)	E510G	probably damaging	Het
Zswim8	T	A	14: 20,764,365 (GRCm39)	S578R	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
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
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'- GCTCTGCTAACCATAATATGCTC -3'
(R):5'- AGGAGGAAGGTCCCTTATACATG -3'

Sequencing Primer
(F):5'- AAGTCTCATCGTTCACAGAGTCTCAG -3'
(R):5'- GAAGGTCCCTTATACATGTTGAAATG -3'

Posted On

2015-07-21