Mutagenetix > Incidental Mutation

Incidental Mutation 'R4072:C2cd4d'

316322

Institutional Source

Beutler Lab

Gene Symbol

C2cd4d

Ensembl Gene

ENSMUSG00000091648

Gene Name

C2 calcium-dependent domain containing 4D

Synonyms

Gm659, LOC271944

MMRRC Submission

040854-MU

Accession Numbers

Essential gene?

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

Stock #

R4072 (G1)

Quality Score

102

Status

Validated

Chromosome

Chromosomal Location

94269745-94271873 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 94271185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 150 (C150*)

Ref Sequence

ENSEMBL: ENSMUSP00000128182 (fasta)

Gene Model

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

AlphaFold

P0CG09

Predicted Effect

probably null
Transcript: ENSMUST00000169433
AA Change: C150*

SMART Domains

Protein: ENSMUSP00000128182
Gene: ENSMUSG00000091648
AA Change: C150*

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: ENSMUST00000196531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200467

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,922,342 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,152,445 (GRCm39)	I1367T	probably damaging	Het
Acsm4	T	A	7: 119,297,981 (GRCm39)	L206H	probably benign	Het
Acss3	C	T	10: 106,959,446 (GRCm39)		probably benign	Het
Adam34l	A	T	8: 44,079,387 (GRCm39)	F279Y	probably damaging	Het
Ankar	G	T	1: 72,727,751 (GRCm39)	D169E	probably damaging	Het
Arfgap3	C	T	15: 83,187,330 (GRCm39)	A510T	probably damaging	Het
Atp4a	T	C	7: 30,414,757 (GRCm39)	I182T	probably benign	Het
Axl	A	G	7: 25,463,336 (GRCm39)		probably benign	Het
Baz1a	A	G	12: 54,988,345 (GRCm39)	I268T	probably benign	Het
Baz2b	A	T	2: 59,742,917 (GRCm39)		probably null	Het
Crtac1	T	C	19: 42,293,146 (GRCm39)	Y321C	probably damaging	Het
Dnah11	T	C	12: 118,070,227 (GRCm39)	H1526R	probably damaging	Het
Dnah5	A	T	15: 28,340,444 (GRCm39)	R2284*	probably null	Het
Dnah9	T	C	11: 65,975,730 (GRCm39)	T1440A	probably benign	Het
Eps15l1	A	G	8: 73,134,128 (GRCm39)	I482T	probably damaging	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Ercc4	G	A	16: 12,948,549 (GRCm39)	V499I	probably damaging	Het
Eva1c	T	A	16: 90,701,019 (GRCm39)	F331Y	probably damaging	Het
Fcho1	T	C	8: 72,163,013 (GRCm39)	H672R	probably damaging	Het
Galntl5	A	T	5: 25,403,478 (GRCm39)	K150*	probably null	Het
Gm19965	A	G	1: 116,748,801 (GRCm39)	T161A	probably benign	Het
Hydin	G	A	8: 111,231,888 (GRCm39)	E1617K	possibly damaging	Het
Krtap31-1	T	C	11: 99,799,058 (GRCm39)	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,519,466 (GRCm39)	L239P	possibly damaging	Het
Nlrp4c	A	G	7: 6,075,709 (GRCm39)	K667E	probably benign	Het
Obox3	G	T	7: 15,359,724 (GRCm39)	T315N	possibly damaging	Het
Obscn	A	G	11: 58,888,009 (GRCm39)	I7652T	unknown	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Or5b3	G	A	19: 13,388,299 (GRCm39)	R122H	possibly damaging	Het
Or8u8	T	A	2: 86,011,991 (GRCm39)	M155L	probably benign	Het
Pde7a	G	A	3: 19,311,017 (GRCm39)	R70C	probably damaging	Het
Pidd1	A	G	7: 141,020,739 (GRCm39)	F453L	probably damaging	Het
Pms2	T	C	5: 143,865,819 (GRCm39)	I742T	probably damaging	Het
Pot1a	T	C	6: 25,752,356 (GRCm39)		probably null	Het
Pramel33	A	T	5: 93,633,057 (GRCm39)	M50K	probably damaging	Het
Rp1l1	A	T	14: 64,265,581 (GRCm39)	E389V	probably damaging	Het
Scnn1a	A	G	6: 125,315,870 (GRCm39)	N407S	probably damaging	Het
Slc30a7	T	C	3: 115,740,329 (GRCm39)	D374G	probably damaging	Het
Slco2a1	T	A	9: 102,945,201 (GRCm39)	I192N	probably damaging	Het
Srp72	C	A	5: 77,146,098 (GRCm39)	T633K	probably benign	Het
Tm2d3	T	A	7: 65,347,498 (GRCm39)	L49*	probably null	Het
Tmprss11e	T	C	5: 86,863,502 (GRCm39)	T188A	possibly damaging	Het
Tox	T	C	4: 6,842,396 (GRCm39)	T45A	probably damaging	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Vwc2	T	A	11: 11,066,446 (GRCm39)	L178Q	probably damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zbtb11	C	T	16: 55,818,427 (GRCm39)	T617I	possibly damaging	Het

Other mutations in C2cd4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:C2cd4d	APN	3	94,271,770 (GRCm39)	utr 3 prime	probably benign
R2090:C2cd4d	UTSW	3	94,271,321 (GRCm39)	missense	probably benign	0.10
R2122:C2cd4d	UTSW	3	94,270,925 (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

Predicted Primers

PCR Primer
(F):5'- GCTGCAACCCTAATGTCCTC -3'
(R):5'- AGATAGGGTTGCAGCTGCTC -3'

Sequencing Primer
(F):5'- GCATCCCACAGTTCTTCATACCG -3'
(R):5'- TTGCAGCTGCTCTGGAC -3'

Posted On

2015-05-15