Mutagenetix > Incidental Mutation

Incidental Mutation 'R8965:2210408I21Rik'

682692

Institutional Source

Beutler Lab

Gene Symbol

2210408I21Rik

Ensembl Gene

ENSMUSG00000071252

Gene Name

RIKEN cDNA 2210408I21 gene

Synonyms

MMRRC Submission

068799-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77283659-77761903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77760723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 1260 (I1260K)

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: I1260K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: I1260K

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	G	T	11: 105,896,175 (GRCm39)	C707F	probably benign	Het
Ahi1	A	G	10: 20,839,761 (GRCm39)	H224R	probably benign	Het
Atp1a2	T	C	1: 172,107,612 (GRCm39)	D669G	probably benign	Het
Cdk5rap2	A	C	4: 70,185,042 (GRCm39)	V1136G	probably benign	Het
Cntnap4	T	A	8: 113,479,646 (GRCm39)	V277E	probably damaging	Het
Cyp2d12	T	C	15: 82,443,186 (GRCm39)	L416P	possibly damaging	Het
Dnah17	T	G	11: 117,915,492 (GRCm39)	T4376P	probably damaging	Het
E4f1	C	T	17: 24,664,504 (GRCm39)	V429M	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Erich6	A	T	3: 58,531,738 (GRCm39)	D419E	probably benign	Het
Grid2	A	G	6: 64,296,990 (GRCm39)	E451G	probably damaging	Het
Herpud1	T	C	8: 95,118,469 (GRCm39)	Y181H	probably damaging	Het
Igkv2-109	A	T	6: 68,280,112 (GRCm39)	Y111F	probably damaging	Het
Lztr1	T	C	16: 17,327,296 (GRCm39)		probably null	Het
Myh13	A	T	11: 67,255,432 (GRCm39)	M1601L	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or10ag53	A	T	2: 87,082,901 (GRCm39)	I207F	possibly damaging	Het
Or2w2	T	C	13: 21,758,387 (GRCm39)	T80A	probably benign	Het
Or5p52	T	C	7: 107,502,314 (GRCm39)	L130P	probably damaging	Het
P2rx1	T	C	11: 72,900,051 (GRCm39)	V156A	probably benign	Het
P3h2	T	C	16: 25,791,134 (GRCm39)	N444S	probably benign	Het
Patz1	T	C	11: 3,257,815 (GRCm39)	Y559H	probably damaging	Het
Pcna	T	C	2: 132,094,769 (GRCm39)	D63G	possibly damaging	Het
Pcnx2	G	A	8: 126,485,853 (GRCm39)	A1915V	probably benign	Het
Peli1	T	C	11: 21,098,488 (GRCm39)	Y408H	probably damaging	Het
Psma5	T	A	3: 108,172,510 (GRCm39)		probably null	Het
Ptpn11	G	A	5: 121,301,229 (GRCm39)	T205M	possibly damaging	Het
Rapgef2	A	G	3: 78,999,851 (GRCm39)	L453P	probably damaging	Het
Slc12a4	A	G	8: 106,671,982 (GRCm39)	V910A	possibly damaging	Het
Spaca6	A	G	17: 18,058,718 (GRCm39)	T306A	probably damaging	Het
Spata6	T	A	4: 111,680,009 (GRCm39)	Y422*	probably null	Het
Svop	A	G	5: 114,173,271 (GRCm39)	Y367H	probably benign	Het
Trgv3	T	A	13: 19,427,180 (GRCm39)	L21Q	probably damaging	Het
Trim38	T	C	13: 23,975,006 (GRCm39)	L315S	possibly damaging	Het
Ttc12	A	G	9: 49,349,718 (GRCm39)	V693A	probably benign	Het
Usp20	T	A	2: 30,901,797 (GRCm39)	Y521N	possibly damaging	Het
Vcam1	T	A	3: 115,922,422 (GRCm39)	K34*	probably null	Het
Vwa1	A	T	4: 155,857,440 (GRCm39)	Y119*	probably null	Het
Vwa5b2	A	G	16: 20,415,076 (GRCm39)	H366R	possibly damaging	Het
Wac	C	A	18: 7,905,936 (GRCm39)	Q168K	probably benign	Het
Wipf2	A	G	11: 98,783,497 (GRCm39)	S308G	probably benign	Het
Zbtb25	A	C	12: 76,396,577 (GRCm39)	I215S	probably benign	Het
Zfp677	T	C	17: 21,617,155 (GRCm39)	S71P	probably damaging	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
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
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'- AGAATAGGAAAGCTGAACCCTC -3'
(R):5'- ACGAGATGGCAGCAATTTTATC -3'

Sequencing Primer
(F):5'- CCTCAATAAACCAGTGACTGTATATC -3'
(R):5'- TGTTTAAAATAAGAAACGTGGAGCC -3'

Posted On

2021-10-11