Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03240:1700003H04Rik'

414245

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700003H04Rik

Ensembl Gene

ENSMUSG00000039174

Gene Name

RIKEN cDNA 1700003H04 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL03240

Quality Score

Status

Chromosome

Chromosomal Location

124359540-124374740 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 124350365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047110] [ENSMUST00000180162]

AlphaFold

E9PXM2

Predicted Effect

unknown
Transcript: ENSMUST00000047110
AA Change: N176D

SMART Domains

Protein: ENSMUSP00000035388
Gene: ENSMUSG00000039174
AA Change: N176D

Domain	Start	End	E-Value	Type
SCOP:d1kz7a2	7	68	4e-4	SMART
Blast:PH	18	114	4e-35	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000180162

SMART Domains

Protein: ENSMUSP00000137342
Gene: ENSMUSG00000039174

Domain	Start	End	E-Value	Type
SCOP:d1kz7a2	7	117	2e-7	SMART
Blast:PH	18	115	1e-67	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	A	G	2: 122,481,182 (GRCm39)	T57A	probably benign	Het
Akap11	A	T	14: 78,733,345 (GRCm39)	D1852E	probably damaging	Het
Arg2	T	A	12: 79,178,605 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,845,107 (GRCm39)	D1437G	probably benign	Het
AW551984	C	A	9: 39,500,418 (GRCm39)	R780L	probably benign	Het
Baz1a	T	A	12: 54,974,352 (GRCm39)	K503*	probably null	Het
Bltp3a	C	A	17: 28,112,227 (GRCm39)	N1167K	probably benign	Het
Cdk2ap1	A	T	5: 124,484,207 (GRCm39)	H96Q	probably damaging	Het
Col11a1	T	A	3: 114,010,859 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,585,665 (GRCm39)		probably null	Het
Col22a1	G	A	15: 71,679,777 (GRCm39)	P877S	unknown	Het
Col7a1	A	T	9: 108,797,441 (GRCm39)	N1681Y	probably null	Het
Dennd1b	T	G	1: 139,067,130 (GRCm39)	S398A	possibly damaging	Het
Fgd2	C	T	17: 29,580,135 (GRCm39)		probably benign	Het
Hadh	T	C	3: 131,042,192 (GRCm39)	S98G	probably benign	Het
Has2	C	T	15: 56,531,656 (GRCm39)	R353H	probably damaging	Het
Heg1	T	C	16: 33,547,783 (GRCm39)	S857P	probably benign	Het
Hemgn	T	A	4: 46,400,732 (GRCm39)	R43*	probably null	Het
Htr4	A	T	18: 62,570,692 (GRCm39)	H249L	possibly damaging	Het
Hycc2	A	G	1: 58,569,076 (GRCm39)	L501P	probably damaging	Het
Iqgap3	T	C	3: 88,022,281 (GRCm39)	S495P	probably benign	Het
Kars1	T	C	8: 112,732,271 (GRCm39)	D99G	probably benign	Het
Krt40	T	A	11: 99,428,394 (GRCm39)	S333C	probably damaging	Het
Lamc2	T	C	1: 152,999,871 (GRCm39)	I1163V	probably damaging	Het
Lrrn2	A	T	1: 132,866,065 (GRCm39)	I377F	possibly damaging	Het
Mcm5	T	A	8: 75,842,530 (GRCm39)	I268N	probably damaging	Het
Mmp21	G	T	7: 133,276,300 (GRCm39)	H514Q	probably damaging	Het
Mtcl1	G	A	17: 66,645,014 (GRCm39)	P1478S	probably damaging	Het
Mybbp1a	A	G	11: 72,336,492 (GRCm39)	T495A	possibly damaging	Het
Myo10	T	A	15: 25,701,688 (GRCm39)	V21E	probably damaging	Het
Nap1l4	A	G	7: 143,091,982 (GRCm39)	S49P	probably benign	Het
Ncoa2	G	A	1: 13,247,316 (GRCm39)	S369F	probably damaging	Het
Niban2	A	C	2: 32,812,109 (GRCm39)	Y397S	probably benign	Het
Or5g9	A	T	2: 85,552,675 (GRCm39)	K309*	probably null	Het
Pon2	A	G	6: 5,265,316 (GRCm39)		probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Psmd6	A	G	14: 14,112,393 (GRCm38)		probably benign	Het
Ptprk	G	T	10: 28,368,957 (GRCm39)	R643L	probably damaging	Het
Ptprq	T	A	10: 107,524,368 (GRCm39)	Y455F	probably benign	Het
Sec23b	G	A	2: 144,408,679 (GRCm39)		probably benign	Het
Sh3pxd2a	A	G	19: 47,256,465 (GRCm39)	L751P	probably damaging	Het
Snx6	T	A	12: 54,830,228 (GRCm39)	H77L	probably damaging	Het
Svep1	C	A	4: 58,048,188 (GRCm39)	C3472F	possibly damaging	Het
Trpd52l3	A	T	19: 29,981,396 (GRCm39)	E50D	probably damaging	Het
Ttc33	A	G	15: 5,246,809 (GRCm39)	D205G	probably damaging	Het
Tubgcp3	A	T	8: 12,699,797 (GRCm39)	V352E	probably benign	Het
Tulp2	T	G	7: 45,171,734 (GRCm39)	F436C	probably damaging	Het
Vmn1r123	T	A	7: 20,896,282 (GRCm39)	M58K	possibly damaging	Het
Vmn2r113	T	C	17: 23,174,931 (GRCm39)	V514A	probably benign	Het
Vps13c	T	C	9: 67,862,329 (GRCm39)	V2982A	probably benign	Het
Ywhaq	T	C	12: 21,445,001 (GRCm39)	T215A	possibly damaging	Het
Zfp677	A	T	17: 21,617,135 (GRCm39)	H64L	probably damaging	Het

Other mutations in 1700003H04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:1700003H04Rik	APN	3	124,373,527 (GRCm39)	missense	possibly damaging	0.83
IGL01640:1700003H04Rik	APN	3	124,373,587 (GRCm39)	missense	probably damaging	0.99
R1513:1700003H04Rik	UTSW	3	124,368,985 (GRCm39)	missense	possibly damaging	0.91
R1537:1700003H04Rik	UTSW	3	124,372,124 (GRCm39)	missense	possibly damaging	0.66
R1832:1700003H04Rik	UTSW	3	124,350,509 (GRCm39)	missense	unknown
R1833:1700003H04Rik	UTSW	3	124,350,509 (GRCm39)	missense	unknown
R1872:1700003H04Rik	UTSW	3	124,350,493 (GRCm39)	missense	unknown
R2993:1700003H04Rik	UTSW	3	124,372,184 (GRCm39)	missense	probably damaging	1.00
R4118:1700003H04Rik	UTSW	3	124,373,503 (GRCm39)	missense	possibly damaging	0.92
R5271:1700003H04Rik	UTSW	3	124,373,496 (GRCm39)	missense	possibly damaging	0.66
R5911:1700003H04Rik	UTSW	3	124,350,380 (GRCm39)	utr 3 prime	probably benign
R7479:1700003H04Rik	UTSW	3	124,372,142 (GRCm39)	missense	probably benign	0.00
R7573:1700003H04Rik	UTSW	3	124,366,917 (GRCm39)	missense
R7995:1700003H04Rik	UTSW	3	124,350,528 (GRCm39)	missense	unknown
R9532:1700003H04Rik	UTSW	3	124,350,397 (GRCm39)	missense	unknown

Posted On

2016-08-02