Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01461:2210408I21Rik'

87976

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2210408I21Rik

Ensembl Gene

ENSMUSG00000071252

Gene Name

RIKEN cDNA 2210408I21 gene

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01461

Quality Score

Status

Chromosome

Chromosomal Location

77135540-77613784 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77281095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 767 (F767S)

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: F767S

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: F767S

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,331,515		probably benign	Het
Abca13	A	G	11: 9,403,834	T3719A	probably damaging	Het
Apob	A	T	12: 8,001,884	M1137L	probably benign	Het
Brd9	C	T	13: 73,951,598	Q445*	probably null	Het
Cdh23	T	C	10: 60,409,147	T990A	possibly damaging	Het
Cenpf	A	G	1: 189,657,096	L1513S	probably damaging	Het
Col27a1	A	G	4: 63,224,243	K56R	probably damaging	Het
Cryaa	A	G	17: 31,681,026	Y118C	probably damaging	Het
Dtl	T	C	1: 191,546,617	T378A	possibly damaging	Het
E330020D12Rik	A	G	1: 153,408,359		noncoding transcript	Het
F7	A	G	8: 13,032,245	D145G	possibly damaging	Het
Flvcr2	A	G	12: 85,803,131		probably benign	Het
Hltf	A	T	3: 20,099,939	K680*	probably null	Het
Ing1	T	G	8: 11,561,453	F22V	probably benign	Het
Ipo5	A	G	14: 120,928,533	D330G	probably damaging	Het
Itgax	G	T	7: 128,135,018	D321Y	probably damaging	Het
Kdelc1	T	C	1: 44,110,934	Q365R	probably damaging	Het
Kel	A	C	6: 41,701,911		probably null	Het
March10	T	C	11: 105,389,605	K618R	probably damaging	Het
Mast4	T	A	13: 102,754,068	M925L	probably damaging	Het
Miga1	C	T	3: 152,335,297	E78K	probably damaging	Het
Olfr1204	G	T	2: 88,852,325	C125F	probably damaging	Het
Olfr58	T	A	9: 19,783,949		probably null	Het
Pkdrej	T	C	15: 85,820,374	I454V	possibly damaging	Het
Prpf6	C	A	2: 181,631,511	T283N	probably benign	Het
R3hdm1	A	G	1: 128,178,906	H197R	probably damaging	Het
Smpd4	A	C	16: 17,621,506	Q7P	probably damaging	Het
Vmn2r84	A	T	10: 130,391,225	I248K	possibly damaging	Het

Other mutations in 2210408I21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:2210408I21Rik	APN	13	77323358	splice site	probably benign
IGL01154:2210408I21Rik	APN	13	77281094	missense	probably benign	0.01
IGL01624:2210408I21Rik	APN	13	77193086	missense	probably damaging	0.99
IGL02033:2210408I21Rik	APN	13	77259876	missense	possibly damaging	0.90
IGL02621:2210408I21Rik	APN	13	77260031	missense	possibly damaging	0.92
IGL02718:2210408I21Rik	APN	13	77174872	missense	probably damaging	1.00
IGL02823:2210408I21Rik	APN	13	77261955	missense	probably damaging	0.96
IGL02859:2210408I21Rik	APN	13	77267699	missense	possibly damaging	0.71
IGL03006:2210408I21Rik	APN	13	77323772	critical splice donor site	probably null
IGL03072:2210408I21Rik	APN	13	77259997	missense	probably benign
IGL03184:2210408I21Rik	APN	13	77323451	missense	possibly damaging	0.63
IGL03275:2210408I21Rik	APN	13	77298555	missense	possibly damaging	0.71
PIT4651001:2210408I21Rik	UTSW	13	77259895	missense	probably benign
R0226:2210408I21Rik	UTSW	13	77303425	missense	possibly damaging	0.86
R0323:2210408I21Rik	UTSW	13	77298555	missense	possibly damaging	0.71
R0614:2210408I21Rik	UTSW	13	77192663	missense	probably benign	0.26
R0894:2210408I21Rik	UTSW	13	77323607	missense	probably benign	0.18
R1165:2210408I21Rik	UTSW	13	77334287	missense	probably benign	0.06
R1509:2210408I21Rik	UTSW	13	77192647	missense	probably benign
R1711:2210408I21Rik	UTSW	13	77269920	missense	possibly damaging	0.93
R1714:2210408I21Rik	UTSW	13	77316360	missense	possibly damaging	0.86
R1718:2210408I21Rik	UTSW	13	77245370	intron	probably benign
R1836:2210408I21Rik	UTSW	13	77323374	missense	probably benign	0.00
R1893:2210408I21Rik	UTSW	13	77267809	missense	possibly damaging	0.93
R2035:2210408I21Rik	UTSW	13	77612642	makesense	probably null
R2329:2210408I21Rik	UTSW	13	77303325	missense	probably benign	0.04
R2897:2210408I21Rik	UTSW	13	77323521	missense	probably benign	0.33
R3688:2210408I21Rik	UTSW	13	77267849	missense	possibly damaging	0.52
R4153:2210408I21Rik	UTSW	13	77193173	missense	probably benign	0.00
R4387:2210408I21Rik	UTSW	13	77316574	critical splice donor site	probably null
R4388:2210408I21Rik	UTSW	13	77316574	critical splice donor site	probably null
R4499:2210408I21Rik	UTSW	13	77316527	missense	possibly damaging	0.96
R4614:2210408I21Rik	UTSW	13	77254256	splice site	probably null
R4798:2210408I21Rik	UTSW	13	77323724	missense	possibly damaging	0.96
R4943:2210408I21Rik	UTSW	13	77245327	missense	possibly damaging	0.86
R5045:2210408I21Rik	UTSW	13	77267808	splice site	probably null
R5387:2210408I21Rik	UTSW	13	77259973	missense	probably benign	0.11
R5500:2210408I21Rik	UTSW	13	77303389	missense	probably benign	0.33
R5686:2210408I21Rik	UTSW	13	77303314	missense	possibly damaging	0.72
R6111:2210408I21Rik	UTSW	13	77327902	missense	possibly damaging	0.72
R6135:2210408I21Rik	UTSW	13	77254216	missense	probably damaging	0.98
R6188:2210408I21Rik	UTSW	13	77183731	missense	possibly damaging	0.53
R6388:2210408I21Rik	UTSW	13	77262111	missense	probably benign
R6588:2210408I21Rik	UTSW	13	77192647	missense	probably benign
R6632:2210408I21Rik	UTSW	13	77281067	missense	possibly damaging	0.86
R6638:2210408I21Rik	UTSW	13	77303402	missense	probably benign	0.07
R6755:2210408I21Rik	UTSW	13	77327875	missense	probably benign
R6971:2210408I21Rik	UTSW	13	77193187	missense	possibly damaging	0.90
R7079:2210408I21Rik	UTSW	13	77254204	missense	possibly damaging	0.86
R7130:2210408I21Rik	UTSW	13	77269902	missense	possibly damaging	0.93
R7215:2210408I21Rik	UTSW	13	77323571	missense	possibly damaging	0.96
R7272:2210408I21Rik	UTSW	13	77323536	missense	probably benign	0.00
R7331:2210408I21Rik	UTSW	13	77183609	missense	possibly damaging	0.53
R7561:2210408I21Rik	UTSW	13	77193195	missense	probably benign
R7684:2210408I21Rik	UTSW	13	77612540	nonsense	probably null
R7728:2210408I21Rik	UTSW	13	77316477	missense	possibly damaging	0.96
R7881:2210408I21Rik	UTSW	13	77323566	missense	possibly damaging	0.53
R7963:2210408I21Rik	UTSW	13	77192554	missense	probably benign	0.02
R8008:2210408I21Rik	UTSW	13	77281115	missense	probably benign	0.28
R8024:2210408I21Rik	UTSW	13	77612594	missense	probably benign
R8170:2210408I21Rik	UTSW	13	77263594	missense	probably benign	0.06
R8201:2210408I21Rik	UTSW	13	77193159	missense	possibly damaging	0.72
R8255:2210408I21Rik	UTSW	13	77267731	missense	possibly damaging	0.71
R8296:2210408I21Rik	UTSW	13	77267777	missense	probably damaging	0.98
R8476:2210408I21Rik	UTSW	13	77261901	missense	possibly damaging	0.92
R8526:2210408I21Rik	UTSW	13	77269816	nonsense	probably null
R8746:2210408I21Rik	UTSW	13	77303410	missense	probably benign	0.01
R8812:2210408I21Rik	UTSW	13	77332352	missense	probably damaging	0.98
R8870:2210408I21Rik	UTSW	13	77323721	missense	possibly damaging	0.96
R8885:2210408I21Rik	UTSW	13	77323406	missense	possibly damaging	0.91
R8910:2210408I21Rik	UTSW	13	77323649	missense	probably benign	0.03
R8911:2210408I21Rik	UTSW	13	77281115	missense	probably benign	0.28
R8965:2210408I21Rik	UTSW	13	77612604	missense	probably benign	0.02
R8968:2210408I21Rik	UTSW	13	77332310	nonsense	probably null
R8989:2210408I21Rik	UTSW	13	77612605	missense	probably benign	0.01
R9163:2210408I21Rik	UTSW	13	77245281	missense	possibly damaging	0.73
R9378:2210408I21Rik	UTSW	13	77323616	missense	possibly damaging	0.53
R9478:2210408I21Rik	UTSW	13	77303454	missense	possibly damaging	0.53
R9523:2210408I21Rik	UTSW	13	77259869	missense	possibly damaging	0.53
R9595:2210408I21Rik	UTSW	13	77316447	missense	probably benign
X0066:2210408I21Rik	UTSW	13	77183640	missense	possibly damaging	0.72
Z1088:2210408I21Rik	UTSW	13	77174891	missense	probably damaging	1.00

Posted On

2013-11-18