Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00707:4933427D14Rik'

13259

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933427D14Rik

Ensembl Gene

ENSMUSG00000020807

Gene Name

RIKEN cDNA 4933427D14 gene

Synonyms

Gm43951

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00707

Quality Score

Status

Chromosome

Chromosomal Location

72044755-72098308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72069330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 528 (T528K)

Ref Sequence

ENSEMBL: ENSMUSP00000122273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108506] [ENSMUST00000131546] [ENSMUST00000142530]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000108506
AA Change: T528K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807
AA Change: T528K

Domain	Start	End	E-Value	Type
Pfam:DUF4673	1	954	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000131546
AA Change: T528K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122273
Gene: ENSMUSG00000020807
AA Change: T528K

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
coiled coil region	210	231	N/A	INTRINSIC
coiled coil region	256	279	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC
low complexity region	360	377	N/A	INTRINSIC
low complexity region	545	559	N/A	INTRINSIC
coiled coil region	625	653	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142530

SMART Domains

Protein: ENSMUSP00000115276
Gene: ENSMUSG00000020807

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
coiled coil region	210	231	N/A	INTRINSIC
coiled coil region	256	279	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156696

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,241,586 (GRCm39)	T1150S	probably damaging	Het
Acrv1	C	T	9: 36,607,904 (GRCm39)	T188I	possibly damaging	Het
Atrnl1	A	T	19: 57,661,697 (GRCm39)	Y559F	probably damaging	Het
Ccdc171	A	T	4: 83,599,392 (GRCm39)	M736L	probably benign	Het
Eif4g1	G	A	16: 20,507,764 (GRCm39)	R1480Q	probably damaging	Het
Huwe1	T	A	X: 150,643,730 (GRCm39)	S553T	probably damaging	Het
Myb	T	A	10: 21,024,283 (GRCm39)	E299V	probably damaging	Het
Nuf2	T	A	1: 169,350,004 (GRCm39)		probably benign	Het
Ptafr	A	G	4: 132,307,569 (GRCm39)	T320A	probably benign	Het
Pwp1	T	A	10: 85,714,380 (GRCm39)	H107Q	probably damaging	Het
Tmeff2	A	G	1: 51,172,212 (GRCm39)		probably null	Het
Zp2	C	T	7: 119,732,636 (GRCm39)	A637T	probably benign	Het
Zzz3	T	A	3: 152,154,680 (GRCm39)	L118*	probably null	Het

Other mutations in 4933427D14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01643:4933427D14Rik	APN	11	72,082,414 (GRCm39)	missense	probably damaging	1.00
IGL02004:4933427D14Rik	APN	11	72,082,423 (GRCm39)	missense	possibly damaging	0.62
IGL02308:4933427D14Rik	APN	11	72,093,308 (GRCm39)	missense	probably damaging	1.00
IGL02378:4933427D14Rik	APN	11	72,080,424 (GRCm39)	missense	probably benign	0.02
IGL02715:4933427D14Rik	APN	11	72,089,714 (GRCm39)	missense	probably damaging	1.00
IGL03330:4933427D14Rik	APN	11	72,050,254 (GRCm39)	missense	probably damaging	1.00
IGL03384:4933427D14Rik	APN	11	72,086,673 (GRCm39)	missense	possibly damaging	0.87
BB002:4933427D14Rik	UTSW	11	72,071,327 (GRCm39)	missense	probably benign	0.31
BB012:4933427D14Rik	UTSW	11	72,071,327 (GRCm39)	missense	probably benign	0.31
IGL03047:4933427D14Rik	UTSW	11	72,057,552 (GRCm39)	missense	possibly damaging	0.74
R0114:4933427D14Rik	UTSW	11	72,086,625 (GRCm39)	missense	probably damaging	1.00
R0526:4933427D14Rik	UTSW	11	72,060,609 (GRCm39)	missense	probably damaging	1.00
R0653:4933427D14Rik	UTSW	11	72,066,371 (GRCm39)	nonsense	probably null
R0669:4933427D14Rik	UTSW	11	72,089,671 (GRCm39)	missense	possibly damaging	0.73
R0729:4933427D14Rik	UTSW	11	72,050,281 (GRCm39)	missense	probably benign	0.07
R1797:4933427D14Rik	UTSW	11	72,089,285 (GRCm39)	missense	possibly damaging	0.77
R3973:4933427D14Rik	UTSW	11	72,089,567 (GRCm39)	missense	probably damaging	1.00
R4744:4933427D14Rik	UTSW	11	72,066,365 (GRCm39)	missense	probably damaging	0.98
R4897:4933427D14Rik	UTSW	11	72,082,342 (GRCm39)	missense	probably damaging	1.00
R5023:4933427D14Rik	UTSW	11	72,057,581 (GRCm39)	missense	probably benign	0.07
R5057:4933427D14Rik	UTSW	11	72,057,581 (GRCm39)	missense	probably benign	0.07
R5100:4933427D14Rik	UTSW	11	72,057,477 (GRCm39)	missense	probably damaging	1.00
R5497:4933427D14Rik	UTSW	11	72,056,360 (GRCm39)	missense	probably benign	0.22
R5556:4933427D14Rik	UTSW	11	72,066,026 (GRCm39)	splice site	probably null
R5631:4933427D14Rik	UTSW	11	72,067,590 (GRCm39)	missense	possibly damaging	0.71
R5683:4933427D14Rik	UTSW	11	72,093,266 (GRCm39)	missense	probably benign
R5742:4933427D14Rik	UTSW	11	72,056,379 (GRCm39)	missense	possibly damaging	0.63
R6247:4933427D14Rik	UTSW	11	72,049,768 (GRCm39)	missense	probably benign	0.02
R6267:4933427D14Rik	UTSW	11	72,086,580 (GRCm39)	missense	probably damaging	1.00
R6296:4933427D14Rik	UTSW	11	72,086,580 (GRCm39)	missense	probably damaging	1.00
R6860:4933427D14Rik	UTSW	11	72,080,412 (GRCm39)	missense	probably damaging	1.00
R7023:4933427D14Rik	UTSW	11	72,069,229 (GRCm39)	critical splice donor site	probably null
R7328:4933427D14Rik	UTSW	11	72,060,606 (GRCm39)	critical splice donor site	probably null
R7514:4933427D14Rik	UTSW	11	72,086,628 (GRCm39)	missense	probably damaging	1.00
R7544:4933427D14Rik	UTSW	11	72,089,765 (GRCm39)	missense	probably damaging	1.00
R7925:4933427D14Rik	UTSW	11	72,071,327 (GRCm39)	missense	probably benign	0.31
R8204:4933427D14Rik	UTSW	11	72,057,606 (GRCm39)	missense	probably benign	0.01
R8280:4933427D14Rik	UTSW	11	72,086,667 (GRCm39)	missense	possibly damaging	0.70
R8316:4933427D14Rik	UTSW	11	72,059,612 (GRCm39)	missense	possibly damaging	0.70
R8366:4933427D14Rik	UTSW	11	72,067,521 (GRCm39)	nonsense	probably null
R8384:4933427D14Rik	UTSW	11	72,057,591 (GRCm39)	missense	probably benign	0.08
R8722:4933427D14Rik	UTSW	11	72,080,422 (GRCm39)	missense	probably benign	0.00
R8944:4933427D14Rik	UTSW	11	72,049,851 (GRCm39)	splice site	probably benign
R9749:4933427D14Rik	UTSW	11	72,080,521 (GRCm39)	missense	possibly damaging	0.95
X0063:4933427D14Rik	UTSW	11	72,067,595 (GRCm39)	missense	probably benign
X0065:4933427D14Rik	UTSW	11	72,080,401 (GRCm39)	missense	possibly damaging	0.65
Z1176:4933427D14Rik	UTSW	11	72,049,826 (GRCm39)	missense	probably benign	0.12
Z1186:4933427D14Rik	UTSW	11	72,089,360 (GRCm39)	missense	probably benign	0.00
Z1186:4933427D14Rik	UTSW	11	72,089,750 (GRCm39)	missense	probably damaging	1.00
Z1186:4933427D14Rik	UTSW	11	72,067,535 (GRCm39)	missense	possibly damaging	0.73
Z1186:4933427D14Rik	UTSW	11	72,080,442 (GRCm39)	missense	probably damaging	1.00
Z1186:4933427D14Rik	UTSW	11	72,086,538 (GRCm39)	frame shift	probably null
Z1186:4933427D14Rik	UTSW	11	72,086,569 (GRCm39)	missense	possibly damaging	0.73
Z1186:4933427D14Rik	UTSW	11	72,086,580 (GRCm39)	missense	probably damaging	1.00
Z1186:4933427D14Rik	UTSW	11	72,086,590 (GRCm39)	frame shift	probably null
Z1186:4933427D14Rik	UTSW	11	72,086,595 (GRCm39)	missense	probably damaging	1.00
Z1186:4933427D14Rik	UTSW	11	72,089,308 (GRCm39)	missense	probably benign	0.13
Z1187:4933427D14Rik	UTSW	11	72,089,308 (GRCm39)	missense	probably benign	0.13
Z1187:4933427D14Rik	UTSW	11	72,086,590 (GRCm39)	frame shift	probably null
Z1187:4933427D14Rik	UTSW	11	72,086,580 (GRCm39)	missense	probably damaging	1.00
Z1187:4933427D14Rik	UTSW	11	72,086,569 (GRCm39)	missense	possibly damaging	0.73
Z1187:4933427D14Rik	UTSW	11	72,086,538 (GRCm39)	frame shift	probably null
Z1187:4933427D14Rik	UTSW	11	72,086,536 (GRCm39)	frame shift	probably null
Z1187:4933427D14Rik	UTSW	11	72,080,442 (GRCm39)	missense	probably damaging	1.00
Z1187:4933427D14Rik	UTSW	11	72,067,535 (GRCm39)	missense	possibly damaging	0.73
Z1187:4933427D14Rik	UTSW	11	72,089,750 (GRCm39)	missense	probably damaging	1.00
Z1187:4933427D14Rik	UTSW	11	72,089,360 (GRCm39)	missense	probably benign	0.00
Z1188:4933427D14Rik	UTSW	11	72,089,360 (GRCm39)	missense	probably benign	0.00
Z1188:4933427D14Rik	UTSW	11	72,089,308 (GRCm39)	missense	probably benign	0.13
Z1188:4933427D14Rik	UTSW	11	72,086,590 (GRCm39)	frame shift	probably null
Z1188:4933427D14Rik	UTSW	11	72,086,580 (GRCm39)	missense	probably damaging	1.00
Z1188:4933427D14Rik	UTSW	11	72,086,569 (GRCm39)	missense	possibly damaging	0.73
Z1188:4933427D14Rik	UTSW	11	72,086,538 (GRCm39)	frame shift	probably null
Z1188:4933427D14Rik	UTSW	11	72,080,442 (GRCm39)	missense	probably damaging	1.00
Z1188:4933427D14Rik	UTSW	11	72,067,535 (GRCm39)	missense	possibly damaging	0.73
Z1188:4933427D14Rik	UTSW	11	72,089,750 (GRCm39)	missense	probably damaging	1.00
Z1189:4933427D14Rik	UTSW	11	72,089,360 (GRCm39)	missense	probably benign	0.00
Z1189:4933427D14Rik	UTSW	11	72,089,750 (GRCm39)	missense	probably damaging	1.00
Z1189:4933427D14Rik	UTSW	11	72,067,535 (GRCm39)	missense	possibly damaging	0.73
Z1189:4933427D14Rik	UTSW	11	72,080,442 (GRCm39)	missense	probably damaging	1.00
Z1189:4933427D14Rik	UTSW	11	72,086,538 (GRCm39)	frame shift	probably null
Z1189:4933427D14Rik	UTSW	11	72,086,569 (GRCm39)	missense	possibly damaging	0.73
Z1189:4933427D14Rik	UTSW	11	72,086,580 (GRCm39)	missense	probably damaging	1.00
Z1189:4933427D14Rik	UTSW	11	72,086,590 (GRCm39)	frame shift	probably null
Z1189:4933427D14Rik	UTSW	11	72,086,595 (GRCm39)	missense	probably damaging	1.00
Z1189:4933427D14Rik	UTSW	11	72,089,308 (GRCm39)	missense	probably benign	0.13
Z1190:4933427D14Rik	UTSW	11	72,089,308 (GRCm39)	missense	probably benign	0.13
Z1190:4933427D14Rik	UTSW	11	72,086,595 (GRCm39)	missense	probably damaging	1.00
Z1190:4933427D14Rik	UTSW	11	72,086,590 (GRCm39)	frame shift	probably null
Z1190:4933427D14Rik	UTSW	11	72,086,580 (GRCm39)	missense	probably damaging	1.00
Z1190:4933427D14Rik	UTSW	11	72,086,569 (GRCm39)	missense	possibly damaging	0.73
Z1190:4933427D14Rik	UTSW	11	72,086,538 (GRCm39)	frame shift	probably null
Z1190:4933427D14Rik	UTSW	11	72,080,442 (GRCm39)	missense	probably damaging	1.00
Z1190:4933427D14Rik	UTSW	11	72,067,535 (GRCm39)	missense	possibly damaging	0.73
Z1190:4933427D14Rik	UTSW	11	72,089,750 (GRCm39)	missense	probably damaging	1.00
Z1190:4933427D14Rik	UTSW	11	72,089,360 (GRCm39)	missense	probably benign	0.00
Z1191:4933427D14Rik	UTSW	11	72,089,308 (GRCm39)	missense	probably benign	0.13
Z1191:4933427D14Rik	UTSW	11	72,086,595 (GRCm39)	missense	probably damaging	1.00
Z1191:4933427D14Rik	UTSW	11	72,086,590 (GRCm39)	frame shift	probably null
Z1191:4933427D14Rik	UTSW	11	72,086,580 (GRCm39)	missense	probably damaging	1.00
Z1191:4933427D14Rik	UTSW	11	72,086,569 (GRCm39)	missense	possibly damaging	0.73
Z1191:4933427D14Rik	UTSW	11	72,086,538 (GRCm39)	frame shift	probably null
Z1191:4933427D14Rik	UTSW	11	72,080,442 (GRCm39)	missense	probably damaging	1.00
Z1191:4933427D14Rik	UTSW	11	72,067,535 (GRCm39)	missense	possibly damaging	0.73
Z1191:4933427D14Rik	UTSW	11	72,089,750 (GRCm39)	missense	probably damaging	1.00
Z1191:4933427D14Rik	UTSW	11	72,089,360 (GRCm39)	missense	probably benign	0.00
Z1192:4933427D14Rik	UTSW	11	72,089,308 (GRCm39)	missense	probably benign	0.13
Z1192:4933427D14Rik	UTSW	11	72,086,595 (GRCm39)	missense	probably damaging	1.00
Z1192:4933427D14Rik	UTSW	11	72,086,590 (GRCm39)	frame shift	probably null
Z1192:4933427D14Rik	UTSW	11	72,086,580 (GRCm39)	missense	probably damaging	1.00
Z1192:4933427D14Rik	UTSW	11	72,086,569 (GRCm39)	missense	possibly damaging	0.73
Z1192:4933427D14Rik	UTSW	11	72,086,538 (GRCm39)	frame shift	probably null
Z1192:4933427D14Rik	UTSW	11	72,080,442 (GRCm39)	missense	probably damaging	1.00
Z1192:4933427D14Rik	UTSW	11	72,067,535 (GRCm39)	missense	possibly damaging	0.73
Z1192:4933427D14Rik	UTSW	11	72,089,750 (GRCm39)	missense	probably damaging	1.00
Z1192:4933427D14Rik	UTSW	11	72,089,360 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06