Mutagenetix > Incidental Mutation

Incidental Mutation 'R1662:Ciao1'

186816

Institutional Source

Beutler Lab

Gene Symbol

Ciao1

Ensembl Gene

ENSMUSG00000003662

Gene Name

cytosolic iron-sulfur protein assembly 1

Synonyms

Wdr39

MMRRC Submission

039698-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R1662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127082858-127089736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127086857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 252 (T252I)

Ref Sequence

ENSEMBL: ENSMUSP00000003759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003759] [ENSMUST00000035871] [ENSMUST00000103220] [ENSMUST00000172636] [ENSMUST00000174030] [ENSMUST00000174288] [ENSMUST00000174863] [ENSMUST00000174503]

AlphaFold

Q99KN2

Predicted Effect

probably benign
Transcript: ENSMUST00000003759
AA Change: T252I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000003759
Gene: ENSMUSG00000003662
AA Change: T252I

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

probably benign
Transcript: ENSMUST00000103220

SMART Domains

Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660

Domain	Start	End	E-Value	Type
low complexity region	65	78	N/A	INTRINSIC
low complexity region	206	223	N/A	INTRINSIC
low complexity region	373	386	N/A	INTRINSIC
DEXDc	477	690	2.63e-30	SMART
AAA	495	680	5.77e-2	SMART
HELICc	768	860	3.76e-17	SMART
low complexity region	876	887	N/A	INTRINSIC
Sec63	981	1286	2.62e-128	SMART
DEXDc	1324	1528	1.43e-31	SMART
AAA	1342	1533	2.39e0	SMART
HELICc	1607	1695	1.26e-9	SMART
Sec63	1812	2124	1.39e-118	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131435

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

SMART Domains

Protein: ENSMUSP00000134189
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	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: 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

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	T	A	4: 126,505,475 (GRCm39)	M1K	probably null	Het
5730507C01Rik	A	C	12: 18,581,967 (GRCm39)	R119S	possibly damaging	Het
Abca1	T	A	4: 53,090,251 (GRCm39)		probably null	Het
Aff1	G	A	5: 103,988,923 (GRCm39)	G830D	probably damaging	Het
AI987944	T	C	7: 41,023,873 (GRCm39)	T369A	possibly damaging	Het
Aoah	A	G	13: 21,184,283 (GRCm39)		probably null	Het
Arhgap40	C	G	2: 158,381,190 (GRCm39)	C349W	probably damaging	Het
Atic	T	A	1: 71,615,286 (GRCm39)	D438E	probably benign	Het
Barhl2	A	T	5: 106,601,365 (GRCm39)	M338K	probably benign	Het
Btd	T	C	14: 31,388,747 (GRCm39)	V156A	probably damaging	Het
Catspere2	A	G	1: 177,874,552 (GRCm39)	K140E	unknown	Het
Ccdc82	T	C	9: 13,262,397 (GRCm39)	V319A	probably damaging	Het
Celsr1	G	T	15: 85,915,263 (GRCm39)	N903K	probably damaging	Het
Cenpf	T	A	1: 189,389,968 (GRCm39)	N1288I	probably damaging	Het
Cma2	T	C	14: 56,210,573 (GRCm39)	C87R	probably damaging	Het
Cops7a	T	A	6: 124,939,401 (GRCm39)	R83W	probably damaging	Het
Cxcr6	A	T	9: 123,639,613 (GRCm39)	M205L	possibly damaging	Het
Dcc	A	G	18: 71,553,409 (GRCm39)	L749P	probably benign	Het
Dync1i2	C	T	2: 71,081,323 (GRCm39)	T484I	possibly damaging	Het
Epas1	A	T	17: 87,136,455 (GRCm39)	K742N	probably damaging	Het
Evc2	A	G	5: 37,506,094 (GRCm39)	T138A	probably benign	Het
F5	T	C	1: 164,035,457 (GRCm39)	I1877T	probably damaging	Het
Fat1	T	G	8: 45,406,201 (GRCm39)	V984G	probably benign	Het
Fat4	T	A	3: 39,034,928 (GRCm39)	V2860D	probably damaging	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gapdhs	C	T	7: 30,436,427 (GRCm39)	R120H	probably damaging	Het
Gcnt3	T	C	9: 69,941,659 (GRCm39)	D303G	probably benign	Het
Gng11	A	T	6: 4,008,066 (GRCm39)	Y43F	probably benign	Het
Hectd4	A	C	5: 121,455,308 (GRCm39)	M651L	probably benign	Het
Ifngr2	T	A	16: 91,357,484 (GRCm39)	Y200N	probably benign	Het
Iqgap3	T	C	3: 88,005,708 (GRCm39)	V512A	probably benign	Het
Kdm2a	A	C	19: 4,378,240 (GRCm39)	D187E	probably damaging	Het
Klhl8	A	G	5: 104,019,911 (GRCm39)	V370A	probably damaging	Het
Kmt2a	G	A	9: 44,747,967 (GRCm39)		probably benign	Het
Krt12	C	A	11: 99,311,650 (GRCm39)	V184F	probably benign	Het
Lrrc8c	A	T	5: 105,754,623 (GRCm39)	I133F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1a	C	G	2: 121,136,889 (GRCm39)	S2568R	possibly damaging	Het
Mbnl1	C	A	3: 60,532,593 (GRCm39)	Q301K	probably damaging	Het
Med12l	A	T	3: 59,001,038 (GRCm39)	K724N	probably damaging	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Mybph	C	T	1: 134,121,374 (GRCm39)	P45S	probably benign	Het
Myo15a	T	A	11: 60,392,527 (GRCm39)	S2157T	probably damaging	Het
Or14j2	G	T	17: 37,886,164 (GRCm39)	T50K	probably damaging	Het
Or1ab2	T	C	8: 72,863,623 (GRCm39)	V71A	probably benign	Het
Or2t35	T	A	14: 14,407,880 (GRCm38)	Y217*	probably null	Het
Or5h25	T	C	16: 58,930,967 (GRCm39)	E2G	probably benign	Het
Otogl	A	G	10: 107,634,218 (GRCm39)	I1419T	possibly damaging	Het
Ovol1	A	T	19: 5,601,667 (GRCm39)	F118L	probably damaging	Het
Pak5	T	C	2: 135,958,680 (GRCm39)	D136G	probably damaging	Het
Pik3r2	T	C	8: 71,223,250 (GRCm39)	Y417C	probably damaging	Het
Ppp2r2a	T	C	14: 67,254,052 (GRCm39)	N372S	probably benign	Het
Prss30	G	T	17: 24,191,806 (GRCm39)	N238K	possibly damaging	Het
Prss33	C	A	17: 24,053,785 (GRCm39)		probably null	Het
Ptpn4	T	C	1: 119,692,788 (GRCm39)	E187G	probably damaging	Het
Ptprg	A	T	14: 12,207,357 (GRCm38)	N100I	probably damaging	Het
Rbpms2	T	C	9: 65,558,324 (GRCm39)	V130A	probably benign	Het
Rdh7	A	T	10: 127,724,481 (GRCm39)	M1K	probably null	Het
Rtp3	A	C	9: 110,815,751 (GRCm39)	S205A	probably benign	Het
Ryr3	G	T	2: 112,539,618 (GRCm39)	D3207E	probably damaging	Het
Scn9a	T	A	2: 66,313,803 (GRCm39)	T1972S	probably benign	Het
Scnn1b	T	C	7: 121,501,551 (GRCm39)	V122A	probably benign	Het
Slc15a4	A	G	5: 127,686,043 (GRCm39)	L213S	probably damaging	Het
Slc27a5	T	A	7: 12,725,173 (GRCm39)	I425F	probably damaging	Het
Spata31d1b	A	G	13: 59,864,442 (GRCm39)	D530G	probably benign	Het
Tcf25	T	A	8: 124,108,289 (GRCm39)	S115T	probably benign	Het
Tet2	A	G	3: 133,172,613 (GRCm39)	L1883P	possibly damaging	Het
Trim21	T	A	7: 102,211,105 (GRCm39)	R205*	probably null	Het
Ttc23	G	T	7: 67,375,069 (GRCm39)		probably null	Het
Tut7	T	C	13: 59,947,717 (GRCm39)	E466G	possibly damaging	Het
Unc13d	T	C	11: 115,959,499 (GRCm39)	K658R	probably null	Het
Vmn1r43	A	G	6: 89,846,572 (GRCm39)	F305L	possibly damaging	Het
Vmn2r2	A	T	3: 64,024,551 (GRCm39)	C677S	probably benign	Het
Wnt5a	T	C	14: 28,240,300 (GRCm39)	M150T	probably benign	Het
Ythdc1	G	A	5: 86,975,981 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,343,408 (GRCm39)	R596*	probably null	Het

Other mutations in Ciao1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01921:Ciao1	APN	2	127,084,755 (GRCm39)	missense	probably benign
R1703:Ciao1	UTSW	2	127,087,739 (GRCm39)	missense	probably benign	0.37
R1935:Ciao1	UTSW	2	127,088,380 (GRCm39)	missense	possibly damaging	0.95
R1940:Ciao1	UTSW	2	127,088,380 (GRCm39)	missense	possibly damaging	0.95
R2427:Ciao1	UTSW	2	127,088,611 (GRCm39)	missense	probably damaging	1.00
R5891:Ciao1	UTSW	2	127,089,054 (GRCm39)	missense	probably benign	0.08
R6295:Ciao1	UTSW	2	127,088,376 (GRCm39)	missense	probably damaging	1.00
R6388:Ciao1	UTSW	2	127,088,396 (GRCm39)	nonsense	probably null
R7211:Ciao1	UTSW	2	127,088,928 (GRCm39)	critical splice donor site	probably null
R7448:Ciao1	UTSW	2	127,087,678 (GRCm39)	missense	probably damaging	0.99
R7572:Ciao1	UTSW	2	127,088,631 (GRCm39)	nonsense	probably null
R8145:Ciao1	UTSW	2	127,087,726 (GRCm39)	missense	possibly damaging	0.90
R8245:Ciao1	UTSW	2	127,088,404 (GRCm39)	missense	probably damaging	1.00
R8912:Ciao1	UTSW	2	127,088,599 (GRCm39)	missense	possibly damaging	0.95
R9229:Ciao1	UTSW	2	127,089,062 (GRCm39)	missense	probably damaging	1.00
R9489:Ciao1	UTSW	2	127,087,684 (GRCm39)	missense	probably damaging	1.00
R9503:Ciao1	UTSW	2	127,084,916 (GRCm39)	missense	probably damaging	0.98
R9605:Ciao1	UTSW	2	127,087,684 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTAAAGGCTGGTGCTGCCAAAG -3'
(R):5'- GGTTCCCGTGTGTAAGGCAGATAAG -3'

Sequencing Primer
(F):5'- GTGCTGCCAAAGCCTGG -3'
(R):5'- CACAGTTGGTACAAGGACTCTG -3'

Posted On

2014-05-09