Mutagenetix > Incidental Mutation

Incidental Mutation 'R8316:4933427D14Rik'

641703

Institutional Source

Beutler Lab

Gene Symbol

4933427D14Rik

Ensembl Gene

ENSMUSG00000020807

Gene Name

RIKEN cDNA 4933427D14 gene

Synonyms

Gm43951

MMRRC Submission

067854-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72044755-72098308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72059612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 693 (V693E)

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: V693E

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807
AA Change: V693E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	C	10: 78,903,573 (GRCm39)	C248G	probably damaging	Het
Abcc10	G	T	17: 46,638,735 (GRCm39)	L42I	probably damaging	Het
Alb	A	G	5: 90,616,449 (GRCm39)	E318G	probably benign	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Aox4	T	A	1: 58,293,470 (GRCm39)	C941S	possibly damaging	Het
Aqp9	A	G	9: 71,045,495 (GRCm39)	V38A	probably benign	Het
AW209491	A	G	13: 14,812,349 (GRCm39)	T401A	probably damaging	Het
Ccdc57	C	T	11: 120,776,742 (GRCm39)	A553T	probably damaging	Het
Celf2	C	T	2: 6,551,914 (GRCm39)	D522N	probably benign	Het
Cfap210	A	G	2: 69,612,287 (GRCm39)		probably null	Het
Cmpk2	A	G	12: 26,524,136 (GRCm39)	N311S	probably damaging	Het
Dcn	T	C	10: 97,330,939 (GRCm39)	I91T	probably damaging	Het
Defa30	G	A	8: 21,624,709 (GRCm39)	V11I	probably benign	Het
Dnmt3a	T	A	12: 3,946,965 (GRCm39)	V397E	probably benign	Het
Ehhadh	G	A	16: 21,585,053 (GRCm39)	A276V	probably benign	Het
Fibcd1	T	C	2: 31,723,791 (GRCm39)		probably benign	Het
Gpr156	A	G	16: 37,818,336 (GRCm39)	D344G	probably null	Het
H2-T5	A	G	17: 36,479,154 (GRCm39)	S32P	unknown	Het
Invs	G	T	4: 48,426,199 (GRCm39)	R995S	possibly damaging	Het
Itpr3	T	C	17: 27,325,199 (GRCm39)	M1264T	possibly damaging	Het
Lzic	C	T	4: 149,572,527 (GRCm39)	A39V	probably benign	Het
Marchf6	A	G	15: 31,482,650 (GRCm39)	L516P	possibly damaging	Het
Mecom	C	T	3: 30,011,529 (GRCm39)	E591K	probably benign	Het
Mical3	T	C	6: 120,911,944 (GRCm39)	D1916G	probably damaging	Het
Mms22l	T	C	4: 24,578,855 (GRCm39)	I738T	probably damaging	Het
Mroh2b	G	A	15: 4,980,746 (GRCm39)	W1438*	probably null	Het
Mroh8	G	T	2: 157,071,879 (GRCm39)	T542K	possibly damaging	Het
Msl1	A	T	11: 98,691,074 (GRCm39)	K416I	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Or51a10	A	T	7: 103,698,829 (GRCm39)	V244E	probably damaging	Het
Or5p5	G	T	7: 107,414,030 (GRCm39)	V82F	possibly damaging	Het
Or5p58	A	G	7: 107,694,450 (GRCm39)	F109S	probably benign	Het
Or6c70	A	G	10: 129,709,891 (GRCm39)	V245A	probably damaging	Het
Pdzk1ip1	T	A	4: 114,946,323 (GRCm39)	V61D	probably benign	Het
Plcxd1	A	T	5: 110,250,180 (GRCm39)	M212L	probably benign	Het
Pld1	A	G	3: 28,078,361 (GRCm39)	T7A	probably benign	Het
Ppm1n	T	C	7: 19,012,302 (GRCm39)	D310G	probably damaging	Het
Prpf8	A	G	11: 75,390,641 (GRCm39)	N1264S	possibly damaging	Het
Pum2	T	A	12: 8,763,456 (GRCm39)	N204K	possibly damaging	Het
Recql5	G	A	11: 115,784,861 (GRCm39)	T822I	possibly damaging	Het
Rfc1	T	C	5: 65,436,077 (GRCm39)	T656A	probably benign	Het
Sacs	T	C	14: 61,427,068 (GRCm39)	Y159H	possibly damaging	Het
Septin14	A	G	5: 129,773,194 (GRCm39)	S148P	probably damaging	Het
Slco1c1	T	A	6: 141,492,640 (GRCm39)	M341K	probably benign	Het
Smok2a	T	C	17: 13,445,160 (GRCm39)	S246P	probably damaging	Het
Spata9	C	A	13: 76,125,890 (GRCm39)	S124R	possibly damaging	Het
Sri	A	G	5: 8,113,317 (GRCm39)	N103D	probably damaging	Het
Sspo	G	A	6: 48,459,622 (GRCm39)	C3327Y	probably damaging	Het
Trank1	A	G	9: 111,178,370 (GRCm39)	M353V	probably benign	Het
Trim80	A	T	11: 115,332,006 (GRCm39)	E66V	probably damaging	Het
Txndc16	A	G	14: 45,448,641 (GRCm39)	L73P	probably damaging	Het
Ugt2b34	T	A	5: 87,039,249 (GRCm39)	M471L	probably damaging	Het
Ush2a	G	T	1: 188,178,899 (GRCm39)	V1357L	probably benign	Het
Usp15	G	T	10: 122,959,848 (GRCm39)	P855T		Het
Uspl1	C	T	5: 149,135,491 (GRCm39)	T290I	possibly damaging	Het
Zbtb2	A	C	10: 4,319,084 (GRCm39)	M314R	probably benign	Het
Zcchc2	A	G	1: 105,959,844 (GRCm39)	Y1151C	probably damaging	Het
Zmat3	T	C	3: 32,395,670 (GRCm39)	Y279C	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
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
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'- GCATAAGGAGAATAACTTCCCGC -3'
(R):5'- CAAGAACAACACATGGCATTTG -3'

Sequencing Primer
(F):5'- GGAGAATAACTTCCCGCTCCTTGAG -3'
(R):5'- CATGGCATTTGTTTTCACAAGGACTG -3'

Posted On

2020-07-28