Mutagenetix > Incidental Mutation

Incidental Mutation 'R8849:Ciao2b'

674885

Institutional Source

Beutler Lab

Gene Symbol

Ciao2b

Ensembl Gene

ENSMUSG00000031879

Gene Name

cytosolic iron-sulfur assembly component 2B

Synonyms

Fam96b, 1110019N10Rik

MMRRC Submission

068672-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R8849 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105366471-105368360 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 105367599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093234] [ENSMUST00000163140] [ENSMUST00000164884]

AlphaFold

Q9D187

Predicted Effect

probably null
Transcript: ENSMUST00000093234

SMART Domains

Protein: ENSMUSP00000090921
Gene: ENSMUSG00000031879

Domain	Start	End	E-Value	Type
low complexity region	3	10	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163140

Predicted Effect

probably null
Transcript: ENSMUST00000164884

SMART Domains

Protein: ENSMUSP00000132725
Gene: ENSMUSG00000031879

Domain	Start	End	E-Value	Type
low complexity region	3	10	N/A	INTRINSIC
Pfam:DUF59	43	121	8.8e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	G	A	16: 14,439,376 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,669,324 (GRCm39)	T2411A	probably benign	Het
Aldh5a1	T	A	13: 25,121,464 (GRCm39)	T30S	probably benign	Het
Alg1	G	A	16: 5,051,532 (GRCm39)	A7T	possibly damaging	Het
Ano10	T	A	9: 122,090,510 (GRCm39)	M268L	probably benign	Het
Avil	T	C	10: 126,844,661 (GRCm39)	V264A	possibly damaging	Het
Bicc1	T	A	10: 70,782,694 (GRCm39)	I558F	probably benign	Het
Bst1	A	T	5: 43,977,927 (GRCm39)	H92L	possibly damaging	Het
C1s2	T	C	6: 124,602,754 (GRCm39)	N486D	probably benign	Het
Carmil3	A	T	14: 55,734,627 (GRCm39)	H452L	probably benign	Het
Ccser1	T	A	6: 61,288,537 (GRCm39)	D233E	probably benign	Het
Ceacam18	G	T	7: 43,294,967 (GRCm39)	L342F	probably benign	Het
Cep95	T	A	11: 106,707,630 (GRCm39)	M691K		Het
Cfap221	G	A	1: 119,922,874 (GRCm39)	P23S	probably damaging	Het
Col20a1	T	C	2: 180,640,432 (GRCm39)	Y572H	probably damaging	Het
Cr2	C	T	1: 194,839,547 (GRCm39)	V627M	probably damaging	Het
Cul2	T	A	18: 3,423,551 (GRCm39)	H320Q	probably benign	Het
Ddx5	A	T	11: 106,675,975 (GRCm39)	V266E	probably damaging	Het
Dgkd	T	C	1: 87,846,365 (GRCm39)	V336A	probably damaging	Het
Dnah6	T	C	6: 73,121,156 (GRCm39)		probably null	Het
Dnhd1	C	A	7: 105,370,723 (GRCm39)	Q4668K	probably benign	Het
Dock7	C	T	4: 98,904,986 (GRCm39)	E630K		Het
Dolk	T	C	2: 30,174,935 (GRCm39)	E370G	probably damaging	Het
Ercc6	T	A	14: 32,291,565 (GRCm39)	L1003Q	probably damaging	Het
Foxc1	T	C	13: 31,992,817 (GRCm39)	S543P	unknown	Het
Gbp2b	A	C	3: 142,313,913 (GRCm39)	M398L	probably benign	Het
Gigyf2	G	T	1: 87,361,592 (GRCm39)	R908L	unknown	Het
Gpr176	T	A	2: 118,110,095 (GRCm39)	E388V	probably damaging	Het
Gpx8	C	T	13: 113,179,704 (GRCm39)	G199E	probably benign	Het
Gtf2a1l	A	G	17: 89,001,566 (GRCm39)	T141A	possibly damaging	Het
Ifi208	G	A	1: 173,506,184 (GRCm39)		probably benign	Het
Itgad	T	A	7: 127,789,157 (GRCm39)		probably benign	Het
Kif20b	C	T	19: 34,915,716 (GRCm39)	Q498*	probably null	Het
Lmo7	T	C	14: 102,163,543 (GRCm39)	Y1463H	unknown	Het
Mms19	A	T	19: 41,952,767 (GRCm39)	L114Q	probably damaging	Het
Mogs	T	C	6: 83,094,986 (GRCm39)	V601A	possibly damaging	Het
Mybpc1	T	A	10: 88,407,447 (GRCm39)	M87L	probably benign	Het
Nhlrc2	T	C	19: 56,580,184 (GRCm39)	V439A	possibly damaging	Het
Npc1l1	T	A	11: 6,179,038 (GRCm39)	H124L	probably damaging	Het
Opn4	A	G	14: 34,318,986 (GRCm39)	W200R	probably damaging	Het
Or2b2b	T	C	13: 21,858,226 (GRCm39)	E296G	possibly damaging	Het
Pax2	T	C	19: 44,749,111 (GRCm39)		probably benign	Het
Phf20	G	T	2: 156,118,440 (GRCm39)	Q381H	probably damaging	Het
Pramel25	A	G	4: 143,521,596 (GRCm39)	N404S	probably damaging	Het
Pramel32	T	A	4: 88,546,014 (GRCm39)	T443S	probably benign	Het
Pramel34	A	T	5: 93,784,197 (GRCm39)	H422Q	probably benign	Het
Rb1	C	T	14: 73,434,709 (GRCm39)	R903Q	probably damaging	Het
Scamp4	T	A	10: 80,445,266 (GRCm39)	V37E	probably damaging	Het
Sema3e	T	C	5: 14,302,673 (GRCm39)	W733R	probably damaging	Het
Sertm1	A	G	3: 54,806,749 (GRCm39)	V92A	possibly damaging	Het
Slc4a5	T	C	6: 83,250,180 (GRCm39)	F638L	probably damaging	Het
Tprn	T	C	2: 25,159,171 (GRCm39)	S703P	probably damaging	Het
Tulp4	T	A	17: 6,272,656 (GRCm39)	M570K	probably benign	Het
Zfp433	T	C	10: 81,556,875 (GRCm39)	I459T	probably benign	Het
Zfp697	A	G	3: 98,334,943 (GRCm39)	E236G	probably benign	Het

Other mutations in Ciao2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0362:Ciao2b	UTSW	8	105,368,222 (GRCm39)	missense	probably null	0.95
R1635:Ciao2b	UTSW	8	105,367,620 (GRCm39)	missense	possibly damaging	0.73
R1699:Ciao2b	UTSW	8	105,366,718 (GRCm39)	missense	probably damaging	1.00
R3080:Ciao2b	UTSW	8	105,368,259 (GRCm39)	missense	possibly damaging	0.66
R5358:Ciao2b	UTSW	8	105,368,282 (GRCm39)	missense	probably damaging	1.00
R7523:Ciao2b	UTSW	8	105,368,404 (GRCm39)	start gained	probably benign
R7998:Ciao2b	UTSW	8	105,367,668 (GRCm39)	missense	probably damaging	1.00
R8801:Ciao2b	UTSW	8	105,367,599 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCGATCACGCCCATTCACAG -3'
(R):5'- GCCCAAATCGATAAACTAAAGAGTG -3'

Sequencing Primer
(F):5'- GCCCATTCACAGCTCCCAG -3'
(R):5'- CGATAAACTAAAGAGTGTCTTTGGGC -3'

Posted On

2021-07-15