Mutagenetix > Incidental Mutation

Incidental Mutation 'R0723:Ciao3'

63632

Institutional Source

Beutler Lab

Gene Symbol

Ciao3

Ensembl Gene

ENSMUSG00000002280

Gene Name

cytosolic iron-sulfur assembly component 3

Synonyms

Narfl, 9030612I22Rik

MMRRC Submission

038905-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0723 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

25992750-26002306 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26000795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 406 (V406M)

Ref Sequence

ENSEMBL: ENSMUSP00000117136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002350] [ENSMUST00000077938] [ENSMUST00000095500] [ENSMUST00000131458] [ENSMUST00000133071] [ENSMUST00000134108] [ENSMUST00000150324] [ENSMUST00000140738] [ENSMUST00000138759] [ENSMUST00000145053]

AlphaFold

Q7TMW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000002350
AA Change: V390M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002350
Gene: ENSMUSG00000002280
AA Change: V390M

Domain	Start	End	E-Value	Type
Pfam:Fe_hyd_lg_C	110	406	8.5e-95	PFAM
Fe_hyd_SSU	410	466	9.56e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077938

SMART Domains

Protein: ENSMUSP00000077091
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	11	173	7.63e-25	SMART
Pfam:HAGH_C	174	270	3.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095500

SMART Domains

Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202

Domain	Start	End	E-Value	Type
Pfam:DUF4472	63	190	5.5e-23	PFAM
coiled coil region	364	408	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130861

Predicted Effect

probably benign
Transcript: ENSMUST00000131458

SMART Domains

Protein: ENSMUSP00000120281
Gene: ENSMUSG00000002280

Domain	Start	End	E-Value	Type
low complexity region	58	73	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133071

SMART Domains

Protein: ENSMUSP00000120885
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	1	125	1.34e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000134108
AA Change: V406M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117136
Gene: ENSMUSG00000002280
AA Change: V406M

Domain	Start	End	E-Value	Type
Pfam:Fe_hyd_lg_C	110	422	4e-85	PFAM
Fe_hyd_SSU	426	482	9.56e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143248

Predicted Effect

probably benign
Transcript: ENSMUST00000150324

SMART Domains

Protein: ENSMUSP00000119647
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	11	173	7.63e-25	SMART
Pfam:HAGH_C	174	270	3.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140738

SMART Domains

Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	11	173	7.63e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138759

SMART Domains

Protein: ENSMUSP00000115538
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	1	125	1.34e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145053

SMART Domains

Protein: ENSMUSP00000114961
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Pfam:Lactamase_B	7	113	3.3e-16	PFAM

Meta Mutation Damage Score

0.5889

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.0%

Validation Efficiency

99% (69/70)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted knock-out die before E10.5. Mice heterozygous for a targeted allele exhibit partial lethality between E10.5 and birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acbd5	T	G	2: 22,959,608 (GRCm39)	V54G	probably damaging	Het
Acin1	A	T	14: 54,902,908 (GRCm39)	S255T	probably damaging	Het
Adcy2	A	G	13: 69,147,248 (GRCm39)	L56P	probably damaging	Het
Akap6	G	T	12: 53,188,685 (GRCm39)	C2033F	probably damaging	Het
Ano5	A	G	7: 51,237,506 (GRCm39)	I777V	probably benign	Het
Arhgef28	A	G	13: 98,075,987 (GRCm39)	V1349A	probably benign	Het
Atosa	G	A	9: 74,916,733 (GRCm39)	G444E	probably damaging	Het
Bank1	T	C	3: 135,760,164 (GRCm39)		probably null	Het
C2cd5	T	C	6: 142,987,281 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,287,697 (GRCm39)	V1161A	probably damaging	Het
Car8	A	T	4: 8,169,703 (GRCm39)	D268E	probably benign	Het
Ckap5	T	A	2: 91,385,676 (GRCm39)	S175T	probably damaging	Het
Clk4	T	A	11: 51,166,320 (GRCm39)	Y67*	probably null	Het
Copg2	T	C	6: 30,792,917 (GRCm39)	I473V	possibly damaging	Het
Cstdc1	T	C	2: 148,625,282 (GRCm39)	I72T	probably damaging	Het
Cyp2s1	C	T	7: 25,508,973 (GRCm39)	V43I	probably benign	Het
Ddx54	A	G	5: 120,761,703 (GRCm39)	D493G	probably benign	Het
Efemp2	T	C	19: 5,530,078 (GRCm39)	S140P	probably damaging	Het
Fat1	C	A	8: 45,479,786 (GRCm39)	T2944K	probably damaging	Het
Fgfr1	T	A	8: 26,047,784 (GRCm39)	D43E	probably damaging	Het
Fry	G	A	5: 150,419,825 (GRCm39)	A996T	probably damaging	Het
Fyb2	G	A	4: 104,873,063 (GRCm39)	V784I	probably benign	Het
Gm6507	T	A	6: 89,162,144 (GRCm39)		noncoding transcript	Het
Gm7964	T	C	7: 83,405,374 (GRCm39)		noncoding transcript	Het
Gucy2c	T	C	6: 136,704,799 (GRCm39)		probably null	Het
Hdac10	A	T	15: 89,010,621 (GRCm39)	L259Q	probably damaging	Het
Hoxd9	A	T	2: 74,529,172 (GRCm39)	D258V	probably damaging	Het
Hs3st3b1	T	C	11: 63,812,401 (GRCm39)	T105A	probably benign	Het
Hsd17b7	A	G	1: 169,783,595 (GRCm39)	L271P	probably damaging	Het
Ifnlr1	T	A	4: 135,428,524 (GRCm39)		probably benign	Het
Kif22	A	T	7: 126,633,078 (GRCm39)	M121K	probably damaging	Het
Kl	G	A	5: 150,876,566 (GRCm39)	D129N	probably damaging	Het
Mettl13	A	T	1: 162,361,999 (GRCm39)	I648N	probably damaging	Het
Mlh1	C	T	9: 111,100,540 (GRCm39)	R18H	probably damaging	Het
Mtmr14	T	C	6: 113,247,473 (GRCm39)		probably benign	Het
Myo15a	C	A	11: 60,369,803 (GRCm39)	N854K	possibly damaging	Het
Myo1h	T	C	5: 114,457,741 (GRCm39)	I84T	probably benign	Het
Myo9a	A	T	9: 59,778,383 (GRCm39)	S1380C	probably benign	Het
Myof	A	G	19: 37,969,708 (GRCm39)	V318A	probably damaging	Het
N4bp2l2	A	G	5: 150,585,897 (GRCm39)	S28P	probably damaging	Het
Nbr1	C	T	11: 101,467,145 (GRCm39)	Q570*	probably null	Het
Nhp2	C	T	11: 51,510,750 (GRCm39)	Q36*	probably null	Het
Or1e17	T	G	11: 73,831,096 (GRCm39)	V8G	probably benign	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Poc1b	T	A	10: 98,965,457 (GRCm39)	W129R	probably damaging	Het
Potegl	T	C	2: 23,146,936 (GRCm39)		probably benign	Het
Rapgef2	C	T	3: 78,986,481 (GRCm39)	E1018K	probably benign	Het
Rgs12	T	C	5: 35,181,710 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,833,873 (GRCm39)	V280I	probably benign	Het
Snx2	A	G	18: 53,343,444 (GRCm39)	I281V	probably benign	Het
Spag5	C	A	11: 78,210,410 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,971,691 (GRCm39)	N341K	probably damaging	Het
Stxbp5	A	T	10: 9,644,617 (GRCm39)	I961N	probably damaging	Het
Tet2	T	C	3: 133,173,045 (GRCm39)	E1739G	probably benign	Het
Tmod2	A	G	9: 75,502,337 (GRCm39)	F50S	possibly damaging	Het
Tnfsf13b	T	G	8: 10,057,166 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,616,679 (GRCm39)	K16525E	possibly damaging	Het
Txnrd2	T	C	16: 18,259,629 (GRCm39)		probably benign	Het
Ubr1	A	T	2: 120,711,582 (GRCm39)	Y1437*	probably null	Het
Vwf	C	A	6: 125,543,225 (GRCm39)	D170E	probably benign	Het
Wdr95	C	G	5: 149,497,513 (GRCm39)	I230M	probably damaging	Het
Xirp2	C	T	2: 67,342,559 (GRCm39)	S1600F	probably damaging	Het
Zfp12	A	G	5: 143,230,638 (GRCm39)	K322E	probably damaging	Het

Other mutations in Ciao3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02166:Ciao3	APN	17	25,999,294 (GRCm39)	missense	possibly damaging	0.83
IGL02266:Ciao3	APN	17	25,999,300 (GRCm39)	missense	possibly damaging	0.91
IGL02537:Ciao3	APN	17	25,997,916 (GRCm39)	unclassified	probably benign
IGL02926:Ciao3	APN	17	26,001,128 (GRCm39)	missense	probably benign
napoleon	UTSW	17	26,001,226 (GRCm39)	makesense	probably null
R0097:Ciao3	UTSW	17	25,995,976 (GRCm39)	missense	possibly damaging	0.94
R0097:Ciao3	UTSW	17	25,995,976 (GRCm39)	missense	possibly damaging	0.94
R1219:Ciao3	UTSW	17	25,994,075 (GRCm39)	missense	probably damaging	1.00
R1370:Ciao3	UTSW	17	25,995,962 (GRCm39)	missense	probably benign	0.24
R4737:Ciao3	UTSW	17	26,000,283 (GRCm39)	missense	probably damaging	1.00
R4739:Ciao3	UTSW	17	26,000,283 (GRCm39)	missense	probably damaging	1.00
R4740:Ciao3	UTSW	17	26,000,283 (GRCm39)	missense	probably damaging	1.00
R4747:Ciao3	UTSW	17	25,999,327 (GRCm39)	missense	probably benign	0.04
R4826:Ciao3	UTSW	17	25,999,306 (GRCm39)	missense	probably damaging	1.00
R5382:Ciao3	UTSW	17	25,995,894 (GRCm39)	unclassified	probably benign
R5789:Ciao3	UTSW	17	26,000,177 (GRCm39)	missense	probably benign
R7275:Ciao3	UTSW	17	25,994,108 (GRCm39)	missense	possibly damaging	0.94
R7576:Ciao3	UTSW	17	25,997,944 (GRCm39)	missense	probably damaging	1.00
R7615:Ciao3	UTSW	17	26,001,103 (GRCm39)	missense	probably benign	0.01
R7706:Ciao3	UTSW	17	26,001,226 (GRCm39)	makesense	probably null
R7911:Ciao3	UTSW	17	25,999,372 (GRCm39)	missense	probably benign	0.16
R8103:Ciao3	UTSW	17	25,996,395 (GRCm39)	missense	probably benign	0.02
R9322:Ciao3	UTSW	17	25,998,548 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGGGACAGGTTCTCATGGCAATG -3'
(R):5'- TGGGCTTTGTTTCAGATACCCACAC -3'

Sequencing Primer
(F):5'- GCAATGTGTGTTTTCTCAAGCC -3'
(R):5'- CATTCAAGCAACCTGTGGTG -3'

Posted On

2013-07-30