Mutagenetix > Incidental Mutation

Incidental Mutation 'R5100:4933427D14Rik'

388228

Institutional Source

Beutler Lab

Gene Symbol

4933427D14Rik

Ensembl Gene

ENSMUSG00000020807

Gene Name

RIKEN cDNA 4933427D14 gene

Synonyms

Gm43951

MMRRC Submission

042689-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5100 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72044755-72098308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72057477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 774 (M774K)

Ref Sequence

ENSEMBL: ENSMUSP00000104146 (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: M774K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807
AA Change: M774K

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	G	A	5: 89,856,502 (GRCm39)	T357I	probably damaging	Het
Ap3m2	T	A	8: 23,279,404 (GRCm39)	M408L	probably benign	Het
Apaf1	A	T	10: 90,833,149 (GRCm39)	N1116K	probably benign	Het
Arhgap31	A	T	16: 38,421,821 (GRCm39)	I1415N	probably damaging	Het
Arhgef17	A	T	7: 100,530,963 (GRCm39)	D1374E	possibly damaging	Het
Asxl1	C	G	2: 153,239,851 (GRCm39)	N546K	probably damaging	Het
Cobll1	T	A	2: 64,956,245 (GRCm39)	T337S	probably benign	Het
Depdc1a	A	T	3: 159,221,157 (GRCm39)	I163L	probably benign	Het
Flrt3	T	A	2: 140,513,304 (GRCm39)		probably null	Het
Foxn4	A	T	5: 114,394,820 (GRCm39)	L369H	possibly damaging	Het
Gm11992	T	C	11: 9,011,290 (GRCm39)	S244P	probably damaging	Het
Gm14412	C	T	2: 177,006,908 (GRCm39)	C329Y	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm5113	G	A	7: 29,878,076 (GRCm39)	V55M	probably damaging	Het
Grhl3	A	G	4: 135,269,986 (GRCm39)	I599T	probably benign	Het
H2-Q6	G	C	17: 35,644,296 (GRCm39)	E93Q	probably benign	Het
Hk3	T	C	13: 55,156,843 (GRCm39)	T570A	probably damaging	Het
Hspb8	T	C	5: 116,553,468 (GRCm39)	I143M	probably damaging	Het
Kif15	A	G	9: 122,821,059 (GRCm39)	T655A	probably damaging	Het
Lpin2	G	A	17: 71,550,965 (GRCm39)	W708*	probably null	Het
Lrit1	T	A	14: 36,784,171 (GRCm39)	C500S	possibly damaging	Het
Macf1	A	C	4: 123,368,261 (GRCm39)	C602G	probably benign	Het
Mesd	C	T	7: 83,546,977 (GRCm39)	R147C	probably damaging	Het
Mfge8	A	T	7: 78,793,048 (GRCm39)	D139E	probably benign	Het
Ncoa3	G	A	2: 165,892,017 (GRCm39)	R131Q	probably damaging	Het
Ncoa5	A	G	2: 164,851,309 (GRCm39)	I188T	probably damaging	Het
Ngp	T	C	9: 110,249,069 (GRCm39)	L47P	probably damaging	Het
Nhlrc1	T	C	13: 47,167,897 (GRCm39)	H120R	probably benign	Het
Otos	T	A	1: 92,572,107 (GRCm39)	H73L	probably damaging	Het
Pcsk5	C	T	19: 17,492,499 (GRCm39)		probably null	Het
Phc3	T	C	3: 30,976,348 (GRCm39)	E740G	possibly damaging	Het
Pla2g7	T	C	17: 43,922,267 (GRCm39)	L382P	probably damaging	Het
Plcd3	C	A	11: 102,969,175 (GRCm39)	R264L	probably benign	Het
Pms2	A	G	5: 143,865,006 (GRCm39)	D696G	probably damaging	Het
Ptchd4	A	T	17: 42,814,567 (GRCm39)	I823F	possibly damaging	Het
Scn9a	T	C	2: 66,364,463 (GRCm39)	R828G	probably damaging	Het
Spred2	T	A	11: 19,971,291 (GRCm39)	C386*	probably null	Het
Terb1	A	T	8: 105,221,805 (GRCm39)	L165*	probably null	Het
Tgm2	A	T	2: 157,969,084 (GRCm39)	S430R	probably benign	Het
Tnxb	A	T	17: 34,929,902 (GRCm39)	I2879F	probably damaging	Het
Trpm3	T	G	19: 22,896,130 (GRCm39)	V977G	probably damaging	Het
Wnt5b	A	C	6: 119,417,449 (GRCm39)	S139A	probably benign	Het
Zfp820	C	A	17: 22,040,054 (GRCm39)	V52L	possibly damaging	Het
Zfyve26	T	A	12: 79,326,832 (GRCm39)	R764*	probably null	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
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
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'- GGTAAGCAACTGAGCCAAGC -3'
(R):5'- TCTCTGTAGTTGCATCACTGTG -3'

Sequencing Primer
(F):5'- CAAGCAAGGTCTTACACTCAGTTGG -3'
(R):5'- CACTGTGCTTTGGGGTATAATAATC -3'

Posted On

2016-06-06