Mutagenetix > Incidental Mutation

Incidental Mutation 'R7092:Cyba'

550295

Institutional Source

Beutler Lab

Gene Symbol

Cyba

Ensembl Gene

ENSMUSG00000006519

Gene Name

cytochrome b-245, alpha polypeptide

Synonyms

p22 phox, b558, cytochrome beta-558

MMRRC Submission

045186-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123151515-123159669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 123154437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 29 (T29P)

Ref Sequence

ENSEMBL: ENSMUSP00000017604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017604] [ENSMUST00000050963] [ENSMUST00000127664] [ENSMUST00000212600]

AlphaFold

Q61462

Predicted Effect

probably damaging
Transcript: ENSMUST00000017604
AA Change: T29P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000017604
Gene: ENSMUSG00000006519
AA Change: T29P

Domain	Start	End	E-Value	Type
Pfam:Cytochrom_B558a	2	190	7.8e-110	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050963

SMART Domains

Protein: ENSMUSP00000056008
Gene: ENSMUSG00000046108

Domain	Start	End	E-Value	Type
Pfam:IL17	88	176	1.2e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000212600
AA Change: T29P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

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

Validation Efficiency

99% (88/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit defects in balance, absence of otoconia, and an inability of phagocytes to produce bacteria-destroying reactive oxygen species. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 137,889,506 (GRCm39)	C37Y	probably benign	Het
A430005L14Rik	T	A	4: 154,045,451 (GRCm39)		probably null	Het
Aadacl2fm3	T	C	3: 59,768,500 (GRCm39)	F10S	probably benign	Het
Abca4	C	G	3: 121,932,218 (GRCm39)	P1499A	probably damaging	Het
Adcy8	T	C	15: 64,743,619 (GRCm39)	N330D	possibly damaging	Het
Arfgef1	A	G	1: 10,223,901 (GRCm39)	Y1466H	probably damaging	Het
Asz1	A	C	6: 18,071,818 (GRCm39)		probably null	Het
Atad5	T	A	11: 80,011,546 (GRCm39)	N1307K	possibly damaging	Het
B4galnt4	C	A	7: 140,648,549 (GRCm39)	F688L	probably damaging	Het
Birc6	C	T	17: 74,953,740 (GRCm39)	T3349I	probably damaging	Het
Ccp110	C	A	7: 118,334,494 (GRCm39)	A989E	probably benign	Het
Ccser2	A	G	14: 36,662,612 (GRCm39)	S191P	probably benign	Het
Cdca2	A	G	14: 67,944,800 (GRCm39)		probably null	Het
Cdcp1	T	A	9: 123,012,678 (GRCm39)	T290S	probably benign	Het
Cep43	C	T	17: 8,391,802 (GRCm39)	P161S	probably benign	Het
Clec2m	T	A	6: 129,299,963 (GRCm39)	T172S	probably benign	Het
Cnnm1	T	C	19: 43,430,387 (GRCm39)	Y502H	probably damaging	Het
Dcaf12	A	T	4: 41,301,366 (GRCm39)	I190N	probably damaging	Het
Depp1	C	A	6: 116,628,749 (GRCm39)	P31T	probably damaging	Het
Epha1	T	C	6: 42,341,179 (GRCm39)	T512A	probably benign	Het
Fancg	G	A	4: 43,004,831 (GRCm39)	P454L	probably benign	Het
Fasn	A	C	11: 120,710,946 (GRCm39)	V268G	possibly damaging	Het
Fip1l1	T	A	5: 74,697,504 (GRCm39)	L42Q	probably damaging	Het
Fjx1	A	G	2: 102,281,101 (GRCm39)	L278P	possibly damaging	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fundc2b	T	A	3: 40,856,809 (GRCm39)	D22V	possibly damaging	Het
Gm1527	T	A	3: 28,968,696 (GRCm39)		probably null	Het
Gng3	T	A	19: 8,815,611 (GRCm39)	M42L	probably benign	Het
Gsdmc2	T	A	15: 63,696,947 (GRCm39)	Q408L	probably damaging	Het
Gtpbp3	T	A	8: 71,944,909 (GRCm39)	I388K	probably benign	Het
Hmcn1	A	T	1: 150,479,997 (GRCm39)	W4534R	probably damaging	Het
Inhca	G	A	9: 103,158,242 (GRCm39)	S106L	possibly damaging	Het
Ist1	A	T	8: 110,409,228 (GRCm39)		probably null	Het
Kifbp	C	A	10: 62,414,079 (GRCm39)	K26N	probably damaging	Het
Kyat3	T	C	3: 142,435,556 (GRCm39)	I276T	probably damaging	Het
Lipm	C	T	19: 34,098,758 (GRCm39)	P411S	possibly damaging	Het
Lipo3	T	C	19: 33,591,092 (GRCm39)		probably null	Het
Lrrc9	C	A	12: 72,510,238 (GRCm39)	Q446K	possibly damaging	Het
Mfsd4a	G	T	1: 131,995,401 (GRCm39)	T77N	probably benign	Het
Mmp1b	T	A	9: 7,386,981 (GRCm39)	D77V	probably damaging	Het
Mrgprb4	A	G	7: 47,847,984 (GRCm39)	S315P	probably benign	Het
Mroh2b	C	A	15: 4,964,160 (GRCm39)	N887K	possibly damaging	Het
Mto1	A	G	9: 78,377,955 (GRCm39)	K599R	probably benign	Het
Muc5ac	T	C	7: 141,363,385 (GRCm39)		probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Mylk2	A	G	2: 152,757,110 (GRCm39)	N295S	probably benign	Het
Nr1i3	G	A	1: 171,041,747 (GRCm39)		probably null	Het
Nup107	T	C	10: 117,626,399 (GRCm39)	K25E	probably damaging	Het
Odc1	G	A	12: 17,598,314 (GRCm39)	V152I	possibly damaging	Het
Or13a20	G	A	7: 140,232,150 (GRCm39)	G86D	probably benign	Het
Or1l4b	T	A	2: 37,036,623 (GRCm39)	M133K	probably damaging	Het
Or5m10b	A	T	2: 85,698,951 (GRCm39)	N5I	probably damaging	Het
Or7g16	G	A	9: 18,727,353 (GRCm39)	P79L	probably damaging	Het
Pde1b	G	T	15: 103,435,458 (GRCm39)	V438L	probably benign	Het
Pde4b	G	A	4: 102,459,048 (GRCm39)	V523M	probably damaging	Het
Pdgfc	C	T	3: 81,111,659 (GRCm39)	P205S	probably damaging	Het
Per2	A	G	1: 91,349,153 (GRCm39)	S1073P	probably damaging	Het
Plekhg5	C	T	4: 152,198,965 (GRCm39)	T1051I	probably damaging	Het
Ppme1	A	T	7: 100,021,029 (GRCm39)	M1K	probably null	Het
Prokr2	A	T	2: 132,223,236 (GRCm39)	V102D	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptprh	C	A	7: 4,583,860 (GRCm39)		probably null	Het
Rbsn	T	C	6: 92,166,607 (GRCm39)	N679S	probably damaging	Het
Rce1	T	C	19: 4,673,118 (GRCm39)	T303A	probably damaging	Het
Rnf123	C	A	9: 107,945,799 (GRCm39)	R329L	probably benign	Het
Robo2	T	A	16: 73,753,531 (GRCm39)	N782I	probably damaging	Het
Ror2	A	C	13: 53,264,272 (GRCm39)	V940G	probably benign	Het
Rpe65	C	T	3: 159,321,228 (GRCm39)	R347C	probably damaging	Het
Rrp8	A	T	7: 105,383,316 (GRCm39)	F317I	probably damaging	Het
Sidt1	A	G	16: 44,120,192 (GRCm39)	V163A	possibly damaging	Het
Sin3b	T	C	8: 73,474,498 (GRCm39)		probably null	Het
Slamf1	A	G	1: 171,604,757 (GRCm39)	T176A	probably benign	Het
Slc12a4	G	T	8: 106,671,855 (GRCm39)	A922D	probably damaging	Het
Slco1a5	T	A	6: 142,194,401 (GRCm39)	Q414L	probably benign	Het
Snx11	C	A	11: 96,663,665 (GRCm39)	R58L	probably damaging	Het
Sp9	A	G	2: 73,104,115 (GRCm39)	D223G	probably damaging	Het
Sptbn1	T	C	11: 30,087,119 (GRCm39)	I1107V	possibly damaging	Het
Stap2	T	C	17: 56,309,954 (GRCm39)	R66G	probably benign	Het
Synrg	T	G	11: 83,899,683 (GRCm39)	F552V	possibly damaging	Het
Trim60	C	T	8: 65,453,700 (GRCm39)	R183H	probably benign	Het
Ttn	T	C	2: 76,733,760 (GRCm39)	D4505G	unknown	Het
Ubxn4	A	G	1: 128,179,959 (GRCm39)	I34M	probably benign	Het
Vac14	T	A	8: 111,442,128 (GRCm39)	M702K	probably damaging	Het
Vmn1r43	T	C	6: 89,846,885 (GRCm39)	I200M	probably benign	Het
Vmn2r108	T	A	17: 20,701,338 (GRCm39)	Y54F	probably benign	Het
Vps13b	T	C	15: 35,640,780 (GRCm39)	Y1382H	probably damaging	Het
Wdr72	T	C	9: 74,117,754 (GRCm39)	I834T	probably damaging	Het
Zfp970	T	A	2: 177,167,085 (GRCm39)	C220S	probably damaging	Het
Zkscan5	T	G	5: 145,156,899 (GRCm39)	I467S	probably benign	Het

Other mutations in Cyba

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01480:Cyba	APN	8	123,151,684 (GRCm39)	missense	probably benign	0.00
IGL02145:Cyba	APN	8	123,151,796 (GRCm39)	missense	probably damaging	1.00
R0145:Cyba	UTSW	8	123,153,977 (GRCm39)	missense	possibly damaging	0.90
R0784:Cyba	UTSW	8	123,154,422 (GRCm39)	missense	probably benign	0.29
R3441:Cyba	UTSW	8	123,151,803 (GRCm39)	nonsense	probably null
R5380:Cyba	UTSW	8	123,153,718 (GRCm39)	missense	possibly damaging	0.89
R9044:Cyba	UTSW	8	123,151,630 (GRCm39)	missense	probably benign	0.44
R9481:Cyba	UTSW	8	123,154,394 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTTGGCCTCTAAAGCTGCAGAC -3'
(R):5'- GACAGCTATGGTGGAGTTCAGC -3'

Sequencing Primer
(F):5'- ACGGAGCTGGTCCTGTCTC -3'
(R):5'- GGCTACCTCCCTGAGTGTC -3'

Posted On

2019-05-15