Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02308:4933427D14Rik'

287691

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 #

IGL02308

Quality Score

Status

Chromosome

Chromosomal Location

72044755-72098308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72093308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 8 (S8F)

Ref Sequence

ENSEMBL: ENSMUSP00000115276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108505] [ENSMUST00000108506] [ENSMUST00000131546] [ENSMUST00000142530] [ENSMUST00000204457]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000108505
AA Change: S8F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104145
Gene: ENSMUSG00000020807
AA Change: S8F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108506
AA Change: S8F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807
AA Change: S8F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131546
AA Change: S8F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122273
Gene: ENSMUSG00000020807
AA Change: S8F

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 damaging
Transcript: ENSMUST00000142530
AA Change: S8F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115276
Gene: ENSMUSG00000020807
AA Change: S8F

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: ENSMUST00000144553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154093

Predicted Effect

probably benign
Transcript: ENSMUST00000204457

SMART Domains

Protein: ENSMUSP00000144817
Gene: ENSMUSG00000107877

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	26	43	N/A	INTRINSIC
low complexity region	240	250	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	T	A	3: 127,522,931 (GRCm39)	Q37L	probably damaging	Het
Cfap43	T	C	19: 47,736,463 (GRCm39)	T1343A	probably benign	Het
Cmbl	C	A	15: 31,585,554 (GRCm39)	P146Q	possibly damaging	Het
Cog2	A	T	8: 125,259,951 (GRCm39)		probably null	Het
Dgkh	C	A	14: 78,825,016 (GRCm39)	V880L	probably benign	Het
Dop1a	T	C	9: 86,402,141 (GRCm39)	S1114P	probably damaging	Het
Eif5b	T	A	1: 38,080,828 (GRCm39)	V723D	probably damaging	Het
Gdf11	A	G	10: 128,721,253 (GRCm39)	Y314H	probably damaging	Het
Gm10110	T	C	14: 90,135,031 (GRCm39)		noncoding transcript	Het
Gria1	G	A	11: 57,127,750 (GRCm39)	V320I	probably benign	Het
H2-Q10	T	A	17: 35,784,463 (GRCm39)	*326R	probably null	Het
Irx6	T	A	8: 93,403,659 (GRCm39)	L128Q	probably damaging	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Lama5	A	G	2: 179,832,120 (GRCm39)		probably benign	Het
Mios	A	G	6: 8,231,269 (GRCm39)	I718V	probably benign	Het
Mroh8	A	G	2: 157,096,893 (GRCm39)	V318A	probably damaging	Het
Nags	A	G	11: 102,039,897 (GRCm39)	*528W	probably null	Het
Nom1	T	A	5: 29,642,708 (GRCm39)	V403D	probably damaging	Het
Npffr2	C	A	5: 89,731,310 (GRCm39)	N413K	probably benign	Het
Olr1	C	T	6: 129,476,860 (GRCm39)	R135K	possibly damaging	Het
Or1e34	A	T	11: 73,779,121 (GRCm39)	Y26N	probably benign	Het
Or52e8	T	A	7: 104,624,665 (GRCm39)	I176F	possibly damaging	Het
Pkhd1	A	G	1: 20,140,600 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,431,698 (GRCm39)	M1158V	probably benign	Het
Sh3d19	A	G	3: 86,001,017 (GRCm39)	K238E	probably damaging	Het
Smarcc2	G	T	10: 128,318,641 (GRCm39)	R641L	probably damaging	Het
Th	T	C	7: 142,451,794 (GRCm39)	E75G	possibly damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Top6bl	T	C	19: 4,713,583 (GRCm39)	K132E	probably damaging	Het
Ttn	G	A	2: 76,724,705 (GRCm39)	R2107*	probably null	Het
Ubr2	A	T	17: 47,245,119 (GRCm39)	C1636S	probably damaging	Het
Vmn2r100	T	A	17: 19,741,597 (GRCm39)	I103K	possibly damaging	Het
Vmn2r88	A	G	14: 51,655,437 (GRCm39)	M558V	possibly damaging	Het
Zzef1	G	A	11: 72,777,573 (GRCm39)	M1801I	probably benign	Het

Other mutations in 4933427D14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00707:4933427D14Rik	APN	11	72,069,330 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16