Mutagenetix > Incidental Mutation

Incidental Mutation 'R9635:Cox5b-ps'

725769

Institutional Source

Beutler Lab

Gene Symbol

Cox5b-ps

Ensembl Gene

ENSMUSG00000079941

Gene Name

cytochrome c oxidase subunit 5B, pseudogene

Synonyms

Gm11273

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9635 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21685199-21685588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21685294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 99 (T99A)

Ref Sequence

ENSEMBL: ENSMUSP00000038961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044043] [ENSMUST00000104942]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044043
AA Change: T99A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038961
Gene: ENSMUSG00000079941
AA Change: T99A

Domain	Start	End	E-Value	Type
Pfam:COX5B	7	129	1.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000104942

SMART Domains

Protein: ENSMUSP00000100547
Gene: ENSMUSG00000078139

Domain	Start	End	E-Value	Type
Pfam:Fe-S_biosyn	23	125	7e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	T	5: 4,100,545 (GRCm39)	T2736S	probably benign	Het
AW209491	T	C	13: 14,811,957 (GRCm39)	V270A	probably benign	Het
Best3	A	T	10: 116,838,450 (GRCm39)	K169N	probably damaging	Het
Cabyr	A	G	18: 12,883,816 (GRCm39)	K101R	probably damaging	Het
Cfhr4	C	T	1: 139,701,764 (GRCm39)	V117I	probably damaging	Het
Chd5	A	T	4: 152,461,079 (GRCm39)	D1223V	possibly damaging	Het
Commd2	T	C	3: 57,559,064 (GRCm39)	D4G	probably benign	Het
Cyp3a41a	A	T	5: 145,652,320 (GRCm39)	F60I	possibly damaging	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dnmbp	C	A	19: 43,855,974 (GRCm39)	A261S	probably benign	Het
Fcgbp	A	C	7: 27,800,832 (GRCm39)	T1293P	probably benign	Het
Gal3st2b	A	C	1: 93,868,777 (GRCm39)	N336T	probably benign	Het
Gm10309	T	C	17: 86,806,494 (GRCm39)	T7A	unknown	Het
Gm10322	A	T	10: 59,451,931 (GRCm39)	H16L	possibly damaging	Het
Gpr17	A	G	18: 32,080,199 (GRCm39)	L288P	probably damaging	Het
Ighe	T	C	12: 113,235,899 (GRCm39)	I142M		Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Lrrk2	T	A	15: 91,696,527 (GRCm39)	D2438E	probably benign	Het
Map3k20	G	A	2: 72,232,403 (GRCm39)	S353N	possibly damaging	Het
Moxd2	T	A	6: 40,863,000 (GRCm39)	D102V	possibly damaging	Het
Obscn	T	C	11: 58,972,686 (GRCm39)	E2120G	possibly damaging	Het
Or4f4-ps1	T	A	2: 111,330,267 (GRCm39)	C223*	probably null	Het
Or5p79	A	G	7: 108,221,654 (GRCm39)	I212V	probably benign	Het
Or6c5c	T	C	10: 129,299,463 (GRCm39)	V306A	probably benign	Het
Pcdhb5	A	T	18: 37,454,510 (GRCm39)	T297S	probably benign	Het
Pdcd2l	A	C	7: 33,892,356 (GRCm39)	L171R	possibly damaging	Het
Ppp4r3b	T	C	11: 29,138,113 (GRCm39)	S154P	probably benign	Het
Prc1	T	G	7: 79,962,047 (GRCm39)	M515R	probably benign	Het
Rbm34	A	G	8: 127,696,872 (GRCm39)	S77P	probably damaging	Het
Samsn1	T	G	16: 75,673,457 (GRCm39)	T140P	probably damaging	Het
Slc34a1	G	A	13: 55,556,940 (GRCm39)	V379M	probably damaging	Het
Stab2	T	A	10: 86,686,651 (GRCm39)	R2298*	probably null	Het
Trim10	G	A	17: 37,187,890 (GRCm39)	V369M	probably damaging	Het
Trpv6	T	C	6: 41,599,901 (GRCm39)	N585S	possibly damaging	Het
Ttn	C	T	2: 76,586,617 (GRCm39)	D21765N	possibly damaging	Het
Ubxn6	A	G	17: 56,376,189 (GRCm39)	L349P	probably damaging	Het
Vdac3	A	T	8: 23,077,575 (GRCm39)	S37R	probably damaging	Het
Vmn1r124	G	A	7: 20,993,720 (GRCm39)	L275F	probably benign	Het
Wdr17	A	T	8: 55,101,375 (GRCm39)	I964N	probably damaging	Het
Zdhhc22	A	G	12: 87,030,396 (GRCm39)	F184S	possibly damaging	Het
Zfp512	A	G	5: 31,623,669 (GRCm39)	H124R	probably benign	Het
Zswim4	T	C	8: 84,939,354 (GRCm39)	T843A	probably damaging	Het

Other mutations in Cox5b-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1980:Cox5b-ps	UTSW	13	21,685,294 (GRCm39)	missense	possibly damaging	0.48
R4107:Cox5b-ps	UTSW	13	21,685,507 (GRCm39)	missense	probably benign
R9136:Cox5b-ps	UTSW	13	21,685,587 (GRCm39)	start codon destroyed	probably null	0.94
R9749:Cox5b-ps	UTSW	13	21,685,515 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGCAGGAAAATACCCATAACTTC -3'
(R):5'- TCCCTACTGATGAGGAGCAG -3'

Sequencing Primer
(F):5'- AGATAACACAGGGGCTCAG -3'
(R):5'- CCTACTGATGAGGAGCAGGCTAC -3'

Posted On

2022-09-12