Mutagenetix > Incidental Mutation

Incidental Mutation 'R5981:Cox7c'

481426

Institutional Source

Beutler Lab

Gene Symbol

Cox7c

Ensembl Gene

ENSMUSG00000017778

Gene Name

cytochrome c oxidase subunit 7C

Synonyms

Cox7c1, COXVIIc

MMRRC Submission

043250-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5981 (G1)

Quality Score

153.008

Status

Not validated

Chromosome

Chromosomal Location

86192917-86194914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86194780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 5 (S5R)

Ref Sequence

ENSEMBL: ENSMUSP00000115419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078764] [ENSMUST00000131011] [ENSMUST00000132233]

AlphaFold

P17665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000017922

Predicted Effect

probably benign
Transcript: ENSMUST00000078764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082983

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131011
AA Change: S5R

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115419
Gene: ENSMUSG00000017778
AA Change: S5R

Domain	Start	End	E-Value	Type
Pfam:COX7C	1	62	1.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132233

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,659,299 (GRCm39)	Y251H	probably benign	Het
Ccr3	G	A	9: 123,828,820 (GRCm39)	G52S	probably damaging	Het
Cep192	T	C	18: 67,993,661 (GRCm39)	L1992P	probably damaging	Het
Cnot1	T	C	8: 96,515,293 (GRCm39)	K23E	probably damaging	Het
Col12a1	G	A	9: 79,585,788 (GRCm39)	R1224C	probably damaging	Het
Eps8	A	G	6: 137,459,208 (GRCm39)	V765A	probably damaging	Het
Frg1	T	C	8: 41,863,307 (GRCm39)	D104G	possibly damaging	Het
Gm11032	T	C	11: 4,571,697 (GRCm39)	V34A	probably benign	Het
Hid1	G	A	11: 115,241,774 (GRCm39)	T612I	possibly damaging	Het
Hivep1	C	T	13: 42,313,664 (GRCm39)	T1968I	probably damaging	Het
Mctp1	A	G	13: 76,905,229 (GRCm39)	D444G	probably damaging	Het
Ms4a1	T	C	19: 11,229,180 (GRCm39)	E242G	probably benign	Het
Mx1	T	C	16: 97,255,405 (GRCm39)	D216G	probably damaging	Het
Panx3	A	G	9: 37,580,177 (GRCm39)	S59P	possibly damaging	Het
Pcdhgb1	A	G	18: 37,814,907 (GRCm39)	D466G	probably damaging	Het
Plg	T	C	17: 12,597,605 (GRCm39)		probably null	Het
Prpf4b	T	C	13: 35,070,693 (GRCm39)	S427P	probably benign	Het
Rbm44	T	C	1: 91,080,411 (GRCm39)	S166P	possibly damaging	Het
Recql	A	G	6: 142,318,604 (GRCm39)	L213P	probably damaging	Het
Rwdd1	A	G	10: 33,885,081 (GRCm39)	Y60H	probably damaging	Het
Sult1b1	A	C	5: 87,682,816 (GRCm39)	I43R	probably damaging	Het
Trak2	A	T	1: 58,947,849 (GRCm39)	V597E	probably benign	Het
Usp17lb	T	A	7: 104,490,394 (GRCm39)	I177F	probably damaging	Het
Zfp410	A	G	12: 84,378,414 (GRCm39)	E193G	probably benign	Het

Other mutations in Cox7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1614:Cox7c	UTSW	13	86,193,904 (GRCm39)	missense	probably benign	0.01
R1667:Cox7c	UTSW	13	86,194,003 (GRCm39)	missense	probably benign	0.01
R5374:Cox7c	UTSW	13	86,194,739 (GRCm39)	missense	probably benign	0.00
R8848:Cox7c	UTSW	13	86,193,900 (GRCm39)	missense	possibly damaging	0.49
R9112:Cox7c	UTSW	13	86,194,837 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGACCTTCAATCTCCGACGC -3'
(R):5'- TTGAGTACGTTTCAGGAAGTTCC -3'

Sequencing Primer
(F):5'- AACCTTCCAGGCCTCGC -3'
(R):5'- GGAAGTTCCTGTTGTAACTCCC -3'

Posted On

2017-06-26