Mutagenetix > Incidental Mutations

Incidental Mutation 'R1703:Ciao1'

189862

Institutional Source

Beutler Lab

Gene Symbol

Ciao1

Ensembl Gene

ENSMUSG00000003662

Gene Name

cytosolic iron-sulfur protein assembly 1

Synonyms

Wdr39

MMRRC Submission

039736-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R1703 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

127240938-127247816 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127245819 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 199 (S199G)

Ref Sequence

ENSEMBL: ENSMUSP00000003759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003759] [ENSMUST00000035871] [ENSMUST00000172636] [ENSMUST00000174030] [ENSMUST00000174288] [ENSMUST00000174503] [ENSMUST00000174863]

Predicted Effect

probably benign
Transcript: ENSMUST00000003759
AA Change: S199G

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003759
Gene: ENSMUSG00000003662
AA Change: S199G

Domain	Start	End	E-Value	Type
WD40	4	44	6.73e-6	SMART
WD40	49	89	4.27e-8	SMART
WD40	94	133	5.22e-12	SMART
WD40	139	178	6.04e-8	SMART
WD40	183	222	9.22e-13	SMART
WD40	240	280	8.04e-4	SMART
WD40	291	332	5.26e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000035871

SMART Domains

Protein: ENSMUSP00000035434
Gene: ENSMUSG00000034850

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Blast:Sec63	37	179	3e-98	BLAST
low complexity region	202	216	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143575

Predicted Effect

probably benign
Transcript: ENSMUST00000172636

SMART Domains

Protein: ENSMUSP00000134199
Gene: ENSMUSG00000003662

Domain	Start	End	E-Value	Type
WD40	4	44	6.73e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174030
AA Change: S199G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000134189
Gene: ENSMUSG00000003662
AA Change: S199G

Domain	Start	End	E-Value	Type
WD40	4	44	6.73e-6	SMART
WD40	49	89	4.27e-8	SMART
WD40	94	133	5.22e-12	SMART
WD40	139	178	6.04e-8	SMART
WD40	183	222	9.22e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174288

SMART Domains

Protein: ENSMUSP00000134629
Gene: ENSMUSG00000034850

Domain	Start	End	E-Value	Type
Blast:Sec63	1	95	1e-60	BLAST
low complexity region	118	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174503

SMART Domains

Protein: ENSMUSP00000133701
Gene: ENSMUSG00000034850

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Blast:Sec63	37	124	8e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000174863

SMART Domains

Protein: ENSMUSP00000134159
Gene: ENSMUSG00000003662

Domain	Start	End	E-Value	Type
WD40	4	44	6.73e-6	SMART
WD40	49	89	4.27e-8	SMART
WD40	94	133	5.22e-12	SMART
WD40	139	176	1.38e1	SMART

Meta Mutation Damage Score

0.1144

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

99% (86/87)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 131,343,702	Y401*	probably null	Het
4932415M13Rik	C	A	17: 53,725,037		noncoding transcript	Het
Acoxl	T	A	2: 127,978,772	S81R	probably damaging	Het
Adamtsl4	A	G	3: 95,677,614	C915R	probably damaging	Het
Adgra3	C	T	5: 50,006,775	M287I	probably benign	Het
Afg1l	T	G	10: 42,400,399	D250A	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Amfr	T	C	8: 93,974,243	T530A	probably benign	Het
Ank2	C	T	3: 126,929,766	V971M	probably damaging	Het
App	A	G	16: 84,965,768	S656P	probably damaging	Het
Arid5a	T	A	1: 36,319,575		probably null	Het
Asic5	T	A	3: 81,999,722	V60D	possibly damaging	Het
Atm	G	T	9: 53,500,700	H1019N	probably benign	Het
Btbd11	A	G	10: 85,387,384	D19G	unknown	Het
Cep250	A	G	2: 155,965,546	K277R	probably benign	Het
Chrna7	C	T	7: 63,099,507	R409H	probably damaging	Het
Chrng	A	T	1: 87,210,906	N419I	possibly damaging	Het
Clstn2	A	T	9: 97,458,237	M694K	possibly damaging	Het
Cpeb2	A	G	5: 43,233,838		probably benign	Het
Cyp2c69	T	A	19: 39,876,366	I223F	probably benign	Het
Dennd1b	A	T	1: 139,169,754		probably null	Het
Dnah17	A	T	11: 118,026,749	L4162Q	probably damaging	Het
Dnm1	T	C	2: 32,323,451	M506V	probably benign	Het
Ecsit	A	G	9: 22,074,811	V173A	probably damaging	Het
Fam13b	T	C	18: 34,451,439		probably null	Het
Fgl2	T	A	5: 21,372,732	W6R	possibly damaging	Het
Galnt9	G	A	5: 110,619,172	R503H	probably damaging	Het
Gm884	C	T	11: 103,540,874	V1372I	probably benign	Het
Gramd1a	C	T	7: 31,139,534	V247M	possibly damaging	Het
Grip2	A	T	6: 91,777,398	I632N	probably damaging	Het
Hspg2	T	C	4: 137,559,151	V3627A	probably damaging	Het
Ipo8	T	C	6: 148,789,892	Y660C	probably benign	Het
Isg15	T	C	4: 156,199,808	R88G	possibly damaging	Het
Itgb5	T	A	16: 33,910,500	D388E	probably benign	Het
Jhy	T	C	9: 40,944,837	Y118C	probably damaging	Het
Kalrn	G	A	16: 34,205,326	T931M	probably damaging	Het
Kif21a	A	G	15: 90,949,047		probably null	Het
Lama2	A	T	10: 27,266,671	Y604N	probably damaging	Het
Lrp3	T	G	7: 35,213,161	S34R	possibly damaging	Het
Lyn	T	C	4: 3,738,867		probably null	Het
Mroh8	C	T	2: 157,271,976	V132I	probably benign	Het
Mthfd1l	T	C	10: 4,148,093	F977L	probably damaging	Het
Nol8	C	T	13: 49,667,457	T912M	possibly damaging	Het
Nrxn1	A	T	17: 90,208,417	N169K	probably damaging	Het
Olfr1118	T	C	2: 87,309,410	V207A	probably benign	Het
Olfr1188	T	A	2: 88,560,255	M262K	possibly damaging	Het
Oplah	A	G	15: 76,296,667	Y1279H	probably benign	Het
Pcsk5	T	C	19: 17,752,094	N129S	probably benign	Het
Pcyt2	G	T	11: 120,613,068	P185T	probably benign	Het
Pdlim2	A	G	14: 70,174,335		probably null	Het
Pgs1	T	C	11: 118,014,728		probably benign	Het
Qprt	A	G	7: 127,108,171	V251A	probably benign	Het
Rasal2	A	C	1: 157,157,600	L834R	probably damaging	Het
Reg1	T	C	6: 78,428,449	C161R	probably damaging	Het
Rp1	T	A	1: 4,345,169	I1907F	probably damaging	Het
S1pr5	T	C	9: 21,244,050	D360G	possibly damaging	Het
Sart3	C	A	5: 113,752,219	V482F	probably benign	Het
Scarf2	A	G	16: 17,802,849	E127G	probably damaging	Het
Serinc5	T	C	13: 92,688,797	S245P	probably damaging	Het
Serpinc1	G	T	1: 160,993,517	R57L	probably damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sgca	A	T	11: 94,969,391	L307M	probably damaging	Het
Slc7a9	C	A	7: 35,454,575	Q208K	probably benign	Het
Slfn10-ps	C	T	11: 83,030,043		noncoding transcript	Het
Spam1	A	T	6: 24,796,257	D69V	probably damaging	Het
Tanc1	A	G	2: 59,843,021	E1490G	probably benign	Het
Tbc1d22a	G	T	15: 86,239,215	D150Y	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tlx1	A	G	19: 45,156,004	D55G	possibly damaging	Het
Tram2	G	T	1: 21,004,234	N241K	probably damaging	Het
Ttc23l	T	C	15: 10,523,658	Y325C	probably damaging	Het
Ubac2	T	A	14: 121,905,170	S27T	probably benign	Het
Utrn	G	A	10: 12,727,729		probably benign	Het
Vnn3	A	T	10: 23,865,930	M378L	probably benign	Het
Vps18	T	A	2: 119,289,057	D6E	probably benign	Het
Xkr5	T	A	8: 18,939,118	I253F	probably benign	Het
Yeats4	A	T	10: 117,215,723	C210S	probably benign	Het
Zdhhc20	A	G	14: 57,839,088		probably null	Het

Other mutations in Ciao1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01921:Ciao1	APN	2	127242835	missense	probably benign
R1662:Ciao1	UTSW	2	127244937	missense	probably benign	0.01
R1935:Ciao1	UTSW	2	127246460	missense	possibly damaging	0.95
R1940:Ciao1	UTSW	2	127246460	missense	possibly damaging	0.95
R2427:Ciao1	UTSW	2	127246691	missense	probably damaging	1.00
R5891:Ciao1	UTSW	2	127247134	missense	probably benign	0.08
R6295:Ciao1	UTSW	2	127246456	missense	probably damaging	1.00
R6388:Ciao1	UTSW	2	127246476	nonsense	probably null
R7211:Ciao1	UTSW	2	127247008	critical splice donor site	probably null
R7448:Ciao1	UTSW	2	127245758	missense	probably damaging	0.99
R7572:Ciao1	UTSW	2	127246711	nonsense	probably null
R8145:Ciao1	UTSW	2	127245806	missense	possibly damaging	0.90
R8245:Ciao1	UTSW	2	127246484	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTCTCTTGGGACTGACAAACTG -3'
(R):5'- CCTGCTCTGACAGGGTTTGATATGG -3'

Sequencing Primer
(F):5'- GATTCATGGCAGACTGCATC -3'
(R):5'- tgattgctgtgaagagacacc -3'

Posted On

2014-05-14