Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01146:C2cd4d'

50803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C2cd4d

Ensembl Gene

ENSMUSG00000091648

Gene Name

C2 calcium-dependent domain containing 4D

Synonyms

Gm659, LOC271944

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL01146

Quality Score

Status

Chromosome

Chromosomal Location

94269745-94271873 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 94271770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169433]

AlphaFold

P0CG09

Predicted Effect

probably benign
Transcript: ENSMUST00000169433

SMART Domains

Protein: ENSMUSP00000128182
Gene: ENSMUSG00000091648

Domain	Start	End	E-Value	Type
Blast:C2	37	81	3e-6	BLAST
low complexity region	109	120	N/A	INTRINSIC
low complexity region	136	149	N/A	INTRINSIC
low complexity region	200	211	N/A	INTRINSIC
C2	221	329	1.01e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200467

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	C	6: 40,943,217 (GRCm39)	I54T	probably damaging	Het
Acss2	T	C	2: 155,403,957 (GRCm39)	V701A	possibly damaging	Het
Adam6a	A	T	12: 113,507,840 (GRCm39)	Y71F	probably damaging	Het
Arhgef37	A	T	18: 61,651,081 (GRCm39)	I148N	possibly damaging	Het
Bhlhe40	T	C	6: 108,641,901 (GRCm39)	S282P	possibly damaging	Het
Bmp2	A	T	2: 133,403,220 (GRCm39)	Q257L	probably benign	Het
Calcr	T	A	6: 3,700,144 (GRCm39)	Y316F	possibly damaging	Het
Ccdc186	T	C	19: 56,797,749 (GRCm39)	E274G	probably damaging	Het
Cdc34b	G	T	11: 94,633,420 (GRCm39)	D207Y	probably benign	Het
Chst5	C	T	8: 112,617,314 (GRCm39)	C102Y	probably damaging	Het
Cnbd2	T	A	2: 156,154,534 (GRCm39)		probably benign	Het
Dnaaf9	C	T	2: 130,612,591 (GRCm39)		probably null	Het
Dnm1l	T	C	16: 16,132,189 (GRCm39)	D549G	probably benign	Het
Gm4847	T	A	1: 166,462,521 (GRCm39)	D323V	probably damaging	Het
Gm9843	G	A	16: 76,200,255 (GRCm39)		noncoding transcript	Het
Gopc	A	G	10: 52,234,963 (GRCm39)	V120A	probably benign	Het
Kmt2c	T	G	5: 25,513,510 (GRCm39)	M3095L	probably damaging	Het
Man1a	T	C	10: 53,783,615 (GRCm39)	E629G	possibly damaging	Het
Pde4b	T	A	4: 102,112,460 (GRCm39)	S12T	possibly damaging	Het
Phf2	A	T	13: 48,973,083 (GRCm39)	L391Q	unknown	Het
Phf8-ps	A	G	17: 33,284,357 (GRCm39)	L815S	possibly damaging	Het
Plekha7	G	A	7: 115,756,708 (GRCm39)		probably benign	Het
Pmpcb	T	A	5: 21,945,476 (GRCm39)		probably benign	Het
Poc1a	T	C	9: 106,182,503 (GRCm39)	Y285H	probably benign	Het
Polr1e	T	C	4: 45,031,369 (GRCm39)	L387S	probably damaging	Het
Prr9	A	T	3: 92,030,504 (GRCm39)	C45*	probably null	Het
Rnf157	T	C	11: 116,240,912 (GRCm39)	H393R	probably benign	Het
Rps6ka4	A	G	19: 6,808,496 (GRCm39)	F554L	probably damaging	Het
Sez6l	A	G	5: 112,576,275 (GRCm39)	S861P	probably damaging	Het
Sh3tc2	G	T	18: 62,122,582 (GRCm39)	D448Y	probably damaging	Het
Smg6	T	G	11: 74,821,254 (GRCm39)	Y508*	probably null	Het
Sult6b2	C	T	6: 142,750,034 (GRCm39)	G28D	probably benign	Het
Traf2	C	A	2: 25,414,931 (GRCm39)	C303F	probably benign	Het

Other mutations in C2cd4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2090:C2cd4d	UTSW	3	94,271,321 (GRCm39)	missense	probably benign	0.10
R2122:C2cd4d	UTSW	3	94,270,925 (GRCm39)	nonsense	probably null
R4072:C2cd4d	UTSW	3	94,271,185 (GRCm39)	nonsense	probably null
R4454:C2cd4d	UTSW	3	94,271,054 (GRCm39)	missense	probably damaging	1.00
R6077:C2cd4d	UTSW	3	94,271,615 (GRCm39)	missense	probably damaging	1.00
R6190:C2cd4d	UTSW	3	94,271,226 (GRCm39)	missense	probably benign	0.00
R6312:C2cd4d	UTSW	3	94,271,742 (GRCm39)	missense	probably damaging	0.99
R6973:C2cd4d	UTSW	3	94,271,130 (GRCm39)	missense	probably damaging	0.96
R7007:C2cd4d	UTSW	3	94,271,378 (GRCm39)	missense	probably benign	0.45
R7057:C2cd4d	UTSW	3	94,270,800 (GRCm39)	missense	probably benign	0.00
R7278:C2cd4d	UTSW	3	94,271,445 (GRCm39)	missense	probably benign	0.00
R7430:C2cd4d	UTSW	3	94,271,657 (GRCm39)	missense	possibly damaging	0.94
R7912:C2cd4d	UTSW	3	94,270,860 (GRCm39)	missense	probably damaging	0.98
R8363:C2cd4d	UTSW	3	94,271,157 (GRCm39)	missense	probably benign	0.35

Posted On

2013-06-21