Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03184:2210408I21Rik'

412379

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2210408I21Rik

Ensembl Gene

ENSMUSG00000071252

Gene Name

RIKEN cDNA 2210408I21 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03184

Quality Score

Status

Chromosome

Chromosomal Location

77283659-77761903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77471570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 992 (Y992H)

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: Y992H

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: Y992H

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	A	G	7: 26,896,432 (GRCm39)		probably benign	Het
Adcy7	T	A	8: 89,035,271 (GRCm39)	D58E	probably benign	Het
Aff2	G	A	X: 68,810,840 (GRCm39)	V404M	possibly damaging	Het
Ankhd1	T	A	18: 36,780,830 (GRCm39)	L1961M	probably damaging	Het
Brms1l	T	C	12: 55,915,062 (GRCm39)	*324Q	probably null	Het
Bub1b	T	C	2: 118,440,258 (GRCm39)		probably benign	Het
Cacna1b	A	G	2: 24,548,501 (GRCm39)		probably null	Het
Clrn1	T	A	3: 58,753,645 (GRCm39)	T239S	probably benign	Het
Clta	T	C	4: 44,025,514 (GRCm39)	Y145H	probably benign	Het
Coro6	T	C	11: 77,354,779 (GRCm39)	V14A	probably damaging	Het
Cyp4a30b	A	G	4: 115,316,216 (GRCm39)	D314G	probably damaging	Het
Fn1	T	C	1: 71,648,656 (GRCm39)	N1418D	probably benign	Het
Fshr	A	C	17: 89,354,068 (GRCm39)	L97V	possibly damaging	Het
Gcm2	T	C	13: 41,258,888 (GRCm39)	Q152R	probably damaging	Het
Gcnt2	A	G	13: 41,041,660 (GRCm39)	N273S	probably benign	Het
Gm11437	A	T	11: 84,047,090 (GRCm39)		probably benign	Het
Gm4559	A	G	7: 141,828,046 (GRCm39)	S19P	unknown	Het
Igsf8	T	G	1: 172,146,199 (GRCm39)	I462R	probably damaging	Het
Kirrel3	T	C	9: 34,919,052 (GRCm39)	F243S	probably damaging	Het
Krt80	C	T	15: 101,250,135 (GRCm39)	V37M	probably damaging	Het
Lama4	T	C	10: 38,954,839 (GRCm39)	Y1131H	probably damaging	Het
Mrpl21	T	C	19: 3,342,529 (GRCm39)		probably benign	Het
Mtcl1	T	C	17: 66,661,209 (GRCm39)	N923S	probably benign	Het
Nectin2	G	A	7: 19,472,231 (GRCm39)	P53S	possibly damaging	Het
Nup98	G	A	7: 101,832,752 (GRCm39)	T335I	probably damaging	Het
Or2y1e	C	A	11: 49,218,568 (GRCm39)	T110K	probably damaging	Het
Or4a74	T	C	2: 89,439,912 (GRCm39)	D178G	probably damaging	Het
Or4e5	A	G	14: 52,728,380 (GRCm39)	S14P	probably benign	Het
Or51a42	T	A	7: 103,708,054 (GRCm39)	I252F	probably damaging	Het
Or6c69c	T	C	10: 129,910,627 (GRCm39)	M116T	possibly damaging	Het
Pcdhb14	A	G	18: 37,582,085 (GRCm39)	E397G	probably benign	Het
Pcgf5	T	G	19: 36,412,076 (GRCm39)		probably benign	Het
Pclo	C	T	5: 14,764,457 (GRCm39)	P1025L	probably damaging	Het
Pdcd1lg2	C	A	19: 29,431,911 (GRCm39)	F226L	probably benign	Het
Pik3ca	T	A	3: 32,494,035 (GRCm39)	S332R	probably benign	Het
Plek	A	T	11: 16,931,887 (GRCm39)	D321E	probably benign	Het
Pm20d2	A	G	4: 33,179,241 (GRCm39)	F333L	probably damaging	Het
Polk	T	C	13: 96,620,491 (GRCm39)	T570A	probably benign	Het
Rpgrip1l	G	A	8: 92,027,437 (GRCm39)	L201F	probably damaging	Het
Serpinb2	T	A	1: 107,452,607 (GRCm39)	L395H	probably damaging	Het
Slc9c1	T	G	16: 45,368,003 (GRCm39)	S197R	probably damaging	Het
Smg1	T	A	7: 117,779,603 (GRCm39)	E1264V	possibly damaging	Het
Sned1	A	G	1: 93,202,390 (GRCm39)	D678G	probably benign	Het
Sorcs2	A	G	5: 36,188,556 (GRCm39)	S851P	probably benign	Het
Srcap	A	G	7: 127,129,674 (GRCm39)		probably benign	Het
Tbck	T	C	3: 132,441,864 (GRCm39)	Y557H	probably damaging	Het
Tfap2d	T	C	1: 19,189,110 (GRCm39)	S219P	probably damaging	Het
Trim9	T	C	12: 70,297,995 (GRCm39)	D570G	probably damaging	Het
Usp25	A	G	16: 76,878,541 (GRCm39)	Y655C	probably damaging	Het
Utrn	T	A	10: 12,585,910 (GRCm39)	T956S	probably benign	Het
Vmn1r68	T	A	7: 10,261,799 (GRCm39)	I100F	probably benign	Het
Vps13a	A	T	19: 16,631,734 (GRCm39)	S2634T	probably benign	Het
Zfp472	T	A	17: 33,196,390 (GRCm39)	L155*	probably null	Het
Zfp808	A	G	13: 62,317,381 (GRCm39)	I43M	possibly 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
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
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

Posted On

2016-08-02