Mutagenetix > Incidental Mutation

Incidental Mutation 'R8097:E330034G19Rik'

630263

Institutional Source

Beutler Lab

Gene Symbol

E330034G19Rik

Ensembl Gene

ENSMUSG00000038925

Gene Name

RIKEN cDNA E330034G19 gene

Synonyms

ZPAC

MMRRC Submission

067529-MU

Accession Numbers

Essential gene?

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

Stock #

R8097 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24344762-24348165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24356920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 217 (L217S)

Ref Sequence

ENSEMBL: ENSMUSP00000124917 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000161740
AA Change: L217S

SMART Domains

Protein: ENSMUSP00000124917
Gene: ENSMUSG00000038925
AA Change: L217S

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: L148S

SMART Domains

Protein: ENSMUSP00000124926
Gene: ENSMUSG00000038925
AA Change: L148S

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: L152S

SMART Domains

Protein: ENSMUSP00000123912
Gene: ENSMUSG00000038925
AA Change: L152S

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,805,394 (GRCm39)	M749I	probably benign	Het
Adcy8	A	T	15: 64,743,711 (GRCm39)		probably null	Het
Adgrb2	G	A	4: 129,901,690 (GRCm39)	C438Y	probably damaging	Het
Amn1	G	A	6: 149,070,853 (GRCm39)		probably benign	Het
Atxn2	C	T	5: 121,887,286 (GRCm39)	R319W	probably damaging	Het
Ccdc162	T	C	10: 41,510,115 (GRCm39)	E830G	probably benign	Het
Ccdc71	T	C	9: 108,340,751 (GRCm39)	V188A	probably benign	Het
Ceacam11	A	T	7: 17,709,455 (GRCm39)	R218*	probably null	Het
Col18a1	A	C	10: 76,948,342 (GRCm39)	L390R	unknown	Het
Cps1	A	G	1: 67,267,429 (GRCm39)	N1399S	probably benign	Het
Ctnnal1	T	C	4: 56,847,845 (GRCm39)	E98G	probably damaging	Het
Cyp1a2	T	A	9: 57,586,836 (GRCm39)		probably null	Het
Cyp2d11	C	A	15: 82,274,581 (GRCm39)		probably null	Het
Cyp2j7	G	A	4: 96,103,647 (GRCm39)	T296I	possibly damaging	Het
Dcc	C	T	18: 71,812,573 (GRCm39)	G407D	probably damaging	Het
Eea1	A	G	10: 95,862,516 (GRCm39)	K813E	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Etf1	T	C	18: 35,064,697 (GRCm39)	D4G	probably benign	Het
F830045P16Rik	T	C	2: 129,305,505 (GRCm39)	T290A	possibly damaging	Het
Filip1	T	C	9: 79,725,541 (GRCm39)	D1026G	probably benign	Het
Flad1	A	T	3: 89,316,442 (GRCm39)	L40H	probably damaging	Het
Fpr3	C	A	17: 18,191,054 (GRCm39)	N108K	probably damaging	Het
Galntl6	A	G	8: 58,415,407 (GRCm39)		probably null	Het
Hmgcll1	T	C	9: 75,922,421 (GRCm39)	L22P	probably benign	Het
Iars2	C	T	1: 185,061,586 (GRCm39)		probably benign	Het
Ifna15	A	T	4: 88,475,938 (GRCm39)	L182Q	probably benign	Het
Kcna6	A	T	6: 126,715,575 (GRCm39)	V438E	probably damaging	Het
Kcnma1	T	A	14: 23,381,032 (GRCm39)	D1012V	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lama2	G	A	10: 27,066,660 (GRCm39)	Q1074*	probably null	Het
Lhx9	T	C	1: 138,766,089 (GRCm39)	Y242C	probably damaging	Het
Lrrc37a	T	A	11: 103,394,925 (GRCm39)	I167F	probably benign	Het
Lrrc49	T	A	9: 60,522,331 (GRCm39)	T351S	probably benign	Het
Lrrc56	A	G	7: 140,775,819 (GRCm39)		probably null	Het
Mlh1	C	A	9: 111,085,160 (GRCm39)		probably null	Het
Msh4	C	T	3: 153,583,545 (GRCm39)		probably null	Het
Nav2	A	G	7: 49,237,525 (GRCm39)	D1999G	probably damaging	Het
Ncapd2	A	T	6: 125,145,945 (GRCm39)	I1272K	possibly damaging	Het
Neurl1a	A	G	19: 47,245,958 (GRCm39)	D530G	probably damaging	Het
Nid2	T	C	14: 19,848,657 (GRCm39)	V1019A	possibly damaging	Het
Nlrp2	A	T	7: 5,330,650 (GRCm39)	L582Q	probably damaging	Het
Or1o4	A	T	17: 37,590,818 (GRCm39)	Y164*	probably null	Het
Or4c121	A	T	2: 89,023,976 (GRCm39)	I134N	probably damaging	Het
Or51a39	A	G	7: 102,363,197 (GRCm39)	V141A	possibly damaging	Het
Or8k1	A	T	2: 86,048,010 (GRCm39)	F15I	probably damaging	Het
Pde6c	G	T	19: 38,150,414 (GRCm39)	E520*	probably null	Het
Pdzk1	C	T	3: 96,757,556 (GRCm39)	T4I	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rap1gap	G	T	4: 137,455,597 (GRCm39)	V667F	probably benign	Het
Recql	A	T	6: 142,320,637 (GRCm39)	I137N	probably damaging	Het
Ryr2	T	C	13: 11,960,881 (GRCm39)	E19G	probably damaging	Het
Ryr3	T	C	2: 112,500,615 (GRCm39)		probably null	Het
Six1	A	G	12: 73,090,524 (GRCm39)	S214P	possibly damaging	Het
Slc24a1	T	C	9: 64,831,734 (GRCm39)	D1121G	probably damaging	Het
Slc30a6	T	A	17: 74,719,693 (GRCm39)	C218S	possibly damaging	Het
Spata31e1	T	A	13: 49,943,676 (GRCm39)	M1L	probably benign	Het
Stab2	T	C	10: 86,704,959 (GRCm39)	D1803G	possibly damaging	Het
Sult2a3	A	T	7: 13,816,635 (GRCm39)	V181E	possibly damaging	Het
Ubc	C	T	5: 125,466,982 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,596,800 (GRCm39)	N870S	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vps13b	T	C	15: 35,709,492 (GRCm39)	I1813T	probably benign	Het
Wdr11	C	T	7: 129,209,611 (GRCm39)	P473L	probably damaging	Het
Zcchc4	T	A	5: 52,953,333 (GRCm39)	I114N	probably benign	Het
Zfp516	C	A	18: 83,005,295 (GRCm39)	S733*	probably null	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R3966:E330034G19Rik	UTSW	14	24,356,939 (GRCm39)	missense	unknown
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
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'- TTTTGAAGGACGTGGATCCC -3'
(R):5'- GGGCTACGCATTACCCTAAG -3'

Sequencing Primer
(F):5'- AAGGACGTGGATCCCTCTTG -3'
(R):5'- ACCCTAAGTAATGTTCCTACCTTTTG -3'

Posted On

2020-06-30