Mutagenetix > Incidental Mutation

Incidental Mutation 'R3966:E330034G19Rik'

312367

Institutional Source

Beutler Lab

Gene Symbol

E330034G19Rik

Ensembl Gene

ENSMUSG00000038925

Gene Name

RIKEN cDNA E330034G19 gene

Synonyms

ZPAC

MMRRC Submission

040935-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R3966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24344762-24348165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24356939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 158 (M158I)

Ref Sequence

ENSEMBL: ENSMUSP00000123912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161740] [ENSMUST00000162224] [ENSMUST00000163055]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000041413
AA Change: M223I

SMART Domains

Protein: ENSMUSP00000040386
Gene: ENSMUSG00000038925
AA Change: M223I

Domain	Start	End	E-Value	Type
coiled coil region	78	131	N/A	INTRINSIC
low complexity region	154	172	N/A	INTRINSIC
coiled coil region	207	325	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000161740
AA Change: M223I

SMART Domains

Protein: ENSMUSP00000124917
Gene: ENSMUSG00000038925
AA Change: M223I

Domain	Start	End	E-Value	Type
coiled coil region	100	153	N/A	INTRINSIC
low complexity region	176	194	N/A	INTRINSIC
coiled coil region	229	347	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000162224
AA Change: M154I

SMART Domains

Protein: ENSMUSP00000124926
Gene: ENSMUSG00000038925
AA Change: M154I

Domain	Start	End	E-Value	Type
coiled coil region	13	66	N/A	INTRINSIC
low complexity region	89	107	N/A	INTRINSIC
coiled coil region	136	256	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000163055
AA Change: M158I

SMART Domains

Protein: ENSMUSP00000123912
Gene: ENSMUSG00000038925
AA Change: M158I

Domain	Start	End	E-Value	Type
coiled coil region	13	66	N/A	INTRINSIC
low complexity region	89	107	N/A	INTRINSIC
coiled coil region	142	181	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	C	1: 89,762,183 (GRCm39)	I371T	probably damaging	Het
Brwd1	G	A	16: 95,845,730 (GRCm39)	T731I	probably damaging	Het
C1galt1c1	A	T	X: 37,720,453 (GRCm39)	V181E	probably benign	Het
C3	A	G	17: 57,525,664 (GRCm39)	V864A	probably damaging	Het
Cadps	A	T	14: 12,522,161 (GRCm38)		probably null	Het
Cemip	T	A	7: 83,600,717 (GRCm39)	Y968F	probably benign	Het
Ces1g	C	A	8: 94,055,139 (GRCm39)	R186L	possibly damaging	Het
Chd2	A	G	7: 73,114,143 (GRCm39)		probably benign	Het
Clptm1l	T	C	13: 73,764,091 (GRCm39)	Y404H	probably damaging	Het
CN725425	T	A	15: 91,126,890 (GRCm39)		probably null	Het
Ctc1	T	A	11: 68,921,954 (GRCm39)	V800D	probably damaging	Het
Cyp1a1	T	A	9: 57,607,432 (GRCm39)	V20D	probably benign	Het
Ehbp1l1	C	T	19: 5,760,601 (GRCm39)		probably null	Het
Gm14137	T	A	2: 119,005,497 (GRCm39)	S19T	probably benign	Het
Gpr141b	A	G	13: 19,913,614 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Inhbb	C	A	1: 119,345,291 (GRCm39)	G333W	probably damaging	Het
Kcnb1	C	T	2: 166,946,412 (GRCm39)	C812Y	probably damaging	Het
Kdm4c	A	G	4: 74,216,820 (GRCm39)	D193G	probably damaging	Het
Mbd5	A	T	2: 49,162,082 (GRCm39)	I855L	possibly damaging	Het
Mcpt1	G	A	14: 56,256,503 (GRCm39)	V80M	probably benign	Het
Med31	C	T	11: 72,102,755 (GRCm39)	A118T	probably benign	Het
Megf10	A	G	18: 57,313,646 (GRCm39)	D30G	probably damaging	Het
Ms4a6b	T	C	19: 11,499,098 (GRCm39)	S71P	probably benign	Het
Muc2	G	A	7: 141,286,233 (GRCm39)	R120H	probably benign	Het
Mycbp2	A	G	14: 103,376,161 (GRCm39)		probably benign	Het
Myrf	T	C	19: 10,196,979 (GRCm39)	E267G	probably benign	Het
Ncor1	T	C	11: 62,235,583 (GRCm39)	T624A	probably damaging	Het
Nfat5	G	T	8: 108,093,921 (GRCm39)	A721S	possibly damaging	Het
Nfatc2	C	T	2: 168,346,469 (GRCm39)	S875N	probably benign	Het
Npm1	C	T	11: 33,110,350 (GRCm39)	G148D	probably benign	Het
Nrap	T	C	19: 56,330,576 (GRCm39)	S1126G	probably damaging	Het
Nucb2	A	G	7: 116,128,110 (GRCm39)	E273G	probably damaging	Het
Prkd1	C	T	12: 50,439,724 (GRCm39)	E368K	probably benign	Het
Ptgs2	T	A	1: 149,981,226 (GRCm39)	I503N	probably damaging	Het
Qrfpr	A	G	3: 36,235,149 (GRCm39)	S243P	possibly damaging	Het
Safb2	T	C	17: 56,882,356 (GRCm39)	S426G	probably null	Het
Sos1	C	T	17: 80,762,608 (GRCm39)	R73H	probably damaging	Het
Spink10	T	C	18: 62,790,975 (GRCm39)	I87T	probably damaging	Het
Tet2	A	G	3: 133,193,418 (GRCm39)	S339P	possibly damaging	Het
Timd5	T	A	11: 46,426,340 (GRCm39)	V149D	possibly damaging	Het
Tmx4	T	C	2: 134,441,981 (GRCm39)	I206V	possibly damaging	Het
Tom1	A	G	8: 75,785,867 (GRCm39)	K360E	probably benign	Het
Trp73	A	G	4: 154,146,493 (GRCm39)	V422A	probably benign	Het
Vmn2r33	T	C	7: 7,557,168 (GRCm39)	M511V	probably benign	Het
Zfp628	T	C	7: 4,924,744 (GRCm39)	S989P	probably benign	Het

Other mutations in E330034G19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02515:E330034G19Rik	APN	14	24,348,052 (GRCm39)	missense	possibly damaging	0.89
R0565:E330034G19Rik	UTSW	14	24,356,985 (GRCm39)	missense	probably benign	0.27
R1507:E330034G19Rik	UTSW	14	24,357,055 (GRCm39)	missense	possibly damaging	0.46
R1819:E330034G19Rik	UTSW	14	24,348,081 (GRCm39)	missense	probably damaging	0.99
R3158:E330034G19Rik	UTSW	14	24,346,965 (GRCm39)	missense	possibly damaging	0.79
R4621:E330034G19Rik	UTSW	14	24,346,070 (GRCm39)	utr 5 prime	probably benign
R4992:E330034G19Rik	UTSW	14	24,357,064 (GRCm39)	missense	unknown
R5567:E330034G19Rik	UTSW	14	24,346,892 (GRCm39)	missense	possibly damaging	0.94
R5570:E330034G19Rik	UTSW	14	24,346,892 (GRCm39)	missense	possibly damaging	0.94
R5630:E330034G19Rik	UTSW	14	24,358,336 (GRCm39)	unclassified	probably benign
R6062:E330034G19Rik	UTSW	14	24,343,448 (GRCm39)	intron	probably benign
R6550:E330034G19Rik	UTSW	14	24,346,886 (GRCm39)	missense	probably benign	0.12
R6799:E330034G19Rik	UTSW	14	24,346,178 (GRCm39)	missense	probably benign	0.03
R6831:E330034G19Rik	UTSW	14	24,346,163 (GRCm39)	missense	probably benign	0.16
R6920:E330034G19Rik	UTSW	14	24,358,310 (GRCm39)	missense	unknown
R7457:E330034G19Rik	UTSW	14	24,359,582 (GRCm39)	missense	unknown
R8097:E330034G19Rik	UTSW	14	24,356,920 (GRCm39)	missense	unknown
R8210:E330034G19Rik	UTSW	14	24,346,104 (GRCm39)	missense
R8221:E330034G19Rik	UTSW	14	24,346,135 (GRCm39)	splice site	probably null
R8243:E330034G19Rik	UTSW	14	24,358,360 (GRCm39)	missense
R8830:E330034G19Rik	UTSW	14	24,359,576 (GRCm39)	missense	unknown
R9137:E330034G19Rik	UTSW	14	24,346,109 (GRCm39)	missense	unknown
R9143:E330034G19Rik	UTSW	14	24,347,004 (GRCm39)	missense	possibly damaging	0.46
R9155:E330034G19Rik	UTSW	14	24,346,938 (GRCm39)	missense	possibly damaging	0.46
R9425:E330034G19Rik	UTSW	14	24,358,387 (GRCm39)	critical splice donor site	probably null
R9454:E330034G19Rik	UTSW	14	24,346,860 (GRCm39)	missense	unknown
R9781:E330034G19Rik	UTSW	14	24,359,528 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCCTCTTGGTGATGGAGAC -3'
(R):5'- GGTAGTCCAACGGGCAAATG -3'

Sequencing Primer
(F):5'- CTTGGTGATGGAGACTTTAGAATCTC -3'
(R):5'- ATGGGGCTACGCATTACCCTAAG -3'

Posted On

2015-04-29