Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03047:4933427D14Rik'

392234

Institutional Source

Beutler Lab

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 #

IGL03047 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72044755-72098308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72057552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 749 (I749T)

Ref Sequence

ENSEMBL: ENSMUSP00000104146 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108506
AA Change: I749T

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807
AA Change: I749T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131546

SMART Domains

Protein: ENSMUSP00000122273
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
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

Meta Mutation Damage Score

0.1541

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,246,568 (GRCm39)	H21Q	possibly damaging	Het
Adam22	A	G	5: 8,132,220 (GRCm39)	S869P	probably damaging	Het
Add3	A	G	19: 53,231,022 (GRCm39)	T566A	probably benign	Het
Asic3	A	C	5: 24,618,788 (GRCm39)	M27L	probably benign	Het
Atp2c1	T	A	9: 105,398,206 (GRCm39)		probably benign	Het
Cabin1	A	T	10: 75,535,934 (GRCm39)		probably benign	Het
Ccr7	C	T	11: 99,036,160 (GRCm39)	R254H	probably benign	Het
Cdk2ap1	G	T	5: 124,486,753 (GRCm39)	A63E	possibly damaging	Het
Cfap70	T	C	14: 20,498,646 (GRCm39)	T14A	possibly damaging	Het
Cldn11	T	A	3: 31,217,256 (GRCm39)	F141L	probably damaging	Het
Comp	G	T	8: 70,827,559 (GRCm39)	A107S	possibly damaging	Het
Cyp2b23	A	T	7: 26,380,892 (GRCm39)		probably benign	Het
Cyp2c68	T	G	19: 39,722,904 (GRCm39)	I215L	probably benign	Het
Cyp4f17	T	A	17: 32,743,023 (GRCm39)	I232K	possibly damaging	Het
Dram2	T	G	3: 106,480,345 (GRCm39)	F219L	probably damaging	Het
Fam186a	G	A	15: 99,843,589 (GRCm39)	A885V	unknown	Het
Fbxo42	A	G	4: 140,926,853 (GRCm39)	T378A	possibly damaging	Het
Frmpd1	T	A	4: 45,283,993 (GRCm39)	V938E	probably damaging	Het
Gramd1c	C	A	16: 43,808,610 (GRCm39)	L489F	probably damaging	Het
Il17ra	T	C	6: 120,458,187 (GRCm39)	I446T	probably damaging	Het
Il36g	G	A	2: 24,082,719 (GRCm39)	A165T	probably damaging	Het
Kcne4	G	T	1: 78,795,495 (GRCm39)	V48F	possibly damaging	Het
Ly6g6c	T	A	17: 35,288,325 (GRCm39)		probably null	Het
Mars2	A	G	1: 55,278,032 (GRCm39)	Y545C	probably benign	Het
Mmp12	T	G	9: 7,357,797 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,930,409 (GRCm39)		probably benign	Het
Nop14	C	T	5: 34,817,358 (GRCm39)	R11K	possibly damaging	Het
Npas3	T	A	12: 53,878,470 (GRCm39)		probably benign	Het
Odf2	A	T	2: 29,810,907 (GRCm39)		probably benign	Het
Or2y1d	A	G	11: 49,321,794 (GRCm39)	M164V	probably benign	Het
Or5p73	T	C	7: 108,064,983 (GRCm39)	S151P	probably damaging	Het
Or5w16	A	G	2: 87,577,338 (GRCm39)	Y266C	possibly damaging	Het
Or6s1	A	G	14: 51,308,613 (GRCm39)	I79T	possibly damaging	Het
Otud7b	T	C	3: 96,058,301 (GRCm39)		probably benign	Het
Plcg1	T	C	2: 160,596,799 (GRCm39)	Y747H	probably damaging	Het
Runx1t1	G	A	4: 13,865,882 (GRCm39)	V357I	probably damaging	Het
Seh1l	C	G	18: 67,922,520 (GRCm39)	T291R	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Sulf2	G	T	2: 165,922,814 (GRCm39)		probably null	Het
Tent4a	C	A	13: 69,651,030 (GRCm39)	D369Y	probably damaging	Het
Tex14	C	T	11: 87,427,530 (GRCm39)	S1174F	probably damaging	Het
Tm9sf4	A	G	2: 153,003,326 (GRCm39)		probably benign	Het
Vmn2r7	G	A	3: 64,614,639 (GRCm39)	H392Y	possibly damaging	Het
Zfhx4	T	A	3: 5,308,793 (GRCm39)	V673D	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCTGCCGTATTGAGTATCAAC -3'
(R):5'- CTGCTGACGGAGAAGTTTGTTC -3'

Sequencing Primer
(F):5'- CCGTATTGAGTATCAACAGTGTG -3'
(R):5'- GAATCTCTGTAGTTGCATCACTG -3'

Posted On

2016-06-09