Mutagenetix > Incidental Mutation

Incidental Mutation 'R4395:Cisd3'

325453

Institutional Source

Beutler Lab

Gene Symbol

Cisd3

Ensembl Gene

ENSMUSG00000078695

Gene Name

CDGSH iron sulfur domain 3

Synonyms

Mel13

MMRRC Submission

041684-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97576652-97579447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97579212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 115 (Y115C)

Ref Sequence

ENSEMBL: ENSMUSP00000103211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018681] [ENSMUST00000044730] [ENSMUST00000103148] [ENSMUST00000103149] [ENSMUST00000107583] [ENSMUST00000107584] [ENSMUST00000107585] [ENSMUST00000107586] [ENSMUST00000169807] [ENSMUST00000179765]

AlphaFold

B1AR13

Predicted Effect

probably benign
Transcript: ENSMUST00000018681

SMART Domains

Protein: ENSMUSP00000018681
Gene: ENSMUSG00000018537

Domain	Start	End	E-Value	Type
RING	18	56	4.99e-5	SMART
low complexity region	263	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000044730

SMART Domains

Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437

Domain	Start	End	E-Value	Type
PHD	7	55	5.92e-7	SMART
PHD	119	178	5e-5	SMART
low complexity region	190	224	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	290	330	N/A	INTRINSIC
low complexity region	358	380	N/A	INTRINSIC
low complexity region	398	412	N/A	INTRINSIC
low complexity region	487	498	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
low complexity region	520	536	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC
low complexity region	579	601	N/A	INTRINSIC
low complexity region	649	666	N/A	INTRINSIC
coiled coil region	703	744	N/A	INTRINSIC
low complexity region	746	756	N/A	INTRINSIC
low complexity region	773	782	N/A	INTRINSIC
low complexity region	802	848	N/A	INTRINSIC
low complexity region	860	901	N/A	INTRINSIC
coiled coil region	915	942	N/A	INTRINSIC
low complexity region	995	1018	N/A	INTRINSIC
low complexity region	1026	1037	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103148

SMART Domains

Protein: ENSMUSP00000099437
Gene: ENSMUSG00000018537

Domain	Start	End	E-Value	Type
RING	18	56	4.99e-5	SMART
low complexity region	263	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103149

SMART Domains

Protein: ENSMUSP00000099438
Gene: ENSMUSG00000018537

Domain	Start	End	E-Value	Type
low complexity region	79	134	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107583
AA Change: Y118C

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

SMART Domains

Protein: ENSMUSP00000103209
Gene: ENSMUSG00000078695
AA Change: Y118C

Domain	Start	End	E-Value	Type
ZnF_CDGSH	54	88	3.39e-9	SMART
ZnF_CDGSH	92	129	5.55e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107584
AA Change: Y96C

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

SMART Domains

Protein: ENSMUSP00000103210
Gene: ENSMUSG00000078695
AA Change: Y96C

Domain	Start	End	E-Value	Type
ZnF_CDGSH	32	66	3.39e-9	SMART
ZnF_CDGSH	70	107	5.55e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107585
AA Change: Y115C

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

SMART Domains

Protein: ENSMUSP00000103211
Gene: ENSMUSG00000078695
AA Change: Y115C

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
ZnF_CDGSH	51	85	3.39e-9	SMART
ZnF_CDGSH	89	126	5.55e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134003

Predicted Effect

probably benign
Transcript: ENSMUST00000107586

SMART Domains

Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437

Domain	Start	End	E-Value	Type
PHD	7	55	5.92e-7	SMART
PHD	119	178	5e-5	SMART
low complexity region	190	224	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	290	330	N/A	INTRINSIC
low complexity region	336	356	N/A	INTRINSIC
low complexity region	388	410	N/A	INTRINSIC
low complexity region	428	442	N/A	INTRINSIC
low complexity region	517	528	N/A	INTRINSIC
low complexity region	532	546	N/A	INTRINSIC
low complexity region	550	566	N/A	INTRINSIC
low complexity region	589	603	N/A	INTRINSIC
low complexity region	609	631	N/A	INTRINSIC
low complexity region	679	696	N/A	INTRINSIC
coiled coil region	733	774	N/A	INTRINSIC
low complexity region	776	786	N/A	INTRINSIC
low complexity region	803	812	N/A	INTRINSIC
low complexity region	832	878	N/A	INTRINSIC
low complexity region	890	931	N/A	INTRINSIC
coiled coil region	945	972	N/A	INTRINSIC
low complexity region	1025	1048	N/A	INTRINSIC
low complexity region	1056	1067	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169807

SMART Domains

Protein: ENSMUSP00000126967
Gene: ENSMUSG00000018537

Domain	Start	End	E-Value	Type
RING	18	56	4.99e-5	SMART
Pfam:RAWUL	146	228	1.9e-26	PFAM
low complexity region	263	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179765

SMART Domains

Protein: ENSMUSP00000137517
Gene: ENSMUSG00000018537

Domain	Start	End	E-Value	Type
RING	18	56	4.99e-5	SMART
low complexity region	263	318	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	G	4: 49,447,679 (GRCm39)	Y283H	probably benign	Het
Adamtsl5	A	G	10: 80,180,736 (GRCm39)	C109R	probably damaging	Het
Adgrg4	T	G	X: 55,977,703 (GRCm39)	L2193V	probably damaging	Het
Alpk3	C	T	7: 80,744,703 (GRCm39)	S1266F	probably damaging	Het
Arfgef3	A	G	10: 18,473,457 (GRCm39)	L1614P	probably damaging	Het
Atm	T	C	9: 53,376,527 (GRCm39)	R2038G	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Capza2	T	C	6: 17,656,449 (GRCm39)		probably null	Het
Cfap43	T	C	19: 47,740,352 (GRCm39)	T1274A	probably benign	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Crebl2	A	G	6: 134,826,208 (GRCm39)	E53G	probably damaging	Het
Ech1	T	C	7: 28,525,671 (GRCm39)	S107P	probably damaging	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Grm8	T	A	6: 27,429,431 (GRCm39)	I488F	probably damaging	Het
Hmga2	C	T	10: 120,311,956 (GRCm39)	G5S	probably damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Ifit3b	G	T	19: 34,589,951 (GRCm39)	E376*	probably null	Het
Ints5	A	G	19: 8,873,808 (GRCm39)	E589G	probably damaging	Het
Iqsec2	C	T	X: 150,992,049 (GRCm39)	T562I	probably damaging	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Ltv1	T	C	10: 13,066,323 (GRCm39)	Y101C	probably benign	Het
Maf1	T	C	15: 76,236,357 (GRCm39)		probably benign	Het
Map3k13	A	T	16: 21,717,321 (GRCm39)	K185N	possibly damaging	Het
Mtcl3	T	C	10: 29,023,351 (GRCm39)	S233P	probably benign	Het
Mtus2	A	T	5: 148,013,432 (GRCm39)	Q75L	probably benign	Het
Nod2	T	A	8: 89,391,019 (GRCm39)	F427Y	probably damaging	Het
Or1s2	A	T	19: 13,758,275 (GRCm39)	I100F	probably benign	Het
Or5p51	A	G	7: 107,444,469 (GRCm39)	L157P	probably damaging	Het
Pik3cg	T	C	12: 32,254,091 (GRCm39)	D632G	probably damaging	Het
Plekhs1	A	G	19: 56,468,326 (GRCm39)	D298G	probably benign	Het
Rbm34	T	C	8: 127,676,131 (GRCm39)	T375A	probably benign	Het
Slc4a7	C	T	14: 14,765,665 (GRCm38)	T549I	probably damaging	Het
Slco1a7	T	C	6: 141,657,844 (GRCm39)	I565V	probably benign	Het
Stk17b	A	G	1: 53,803,274 (GRCm39)	I47T	probably damaging	Het
Tenm2	C	T	11: 35,915,451 (GRCm39)	V2028I	probably benign	Het
Tle4	A	T	19: 14,495,302 (GRCm39)	H142Q	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Trpm2	T	C	10: 77,765,053 (GRCm39)	I983V	probably benign	Het
Ttll8	C	T	15: 88,799,783 (GRCm39)	A553T	possibly damaging	Het
Ubxn11	G	T	4: 133,843,431 (GRCm39)	E171D	possibly damaging	Het

Other mutations in Cisd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4131:Cisd3	UTSW	11	97,579,257 (GRCm39)	missense	possibly damaging	0.56
R6950:Cisd3	UTSW	11	97,576,986 (GRCm39)	splice site	probably null
R7176:Cisd3	UTSW	11	97,576,959 (GRCm39)	missense	probably benign
R8063:Cisd3	UTSW	11	97,576,710 (GRCm39)	missense	probably benign	0.00
R8560:Cisd3	UTSW	11	97,576,689 (GRCm39)	missense	possibly damaging	0.72
R8826:Cisd3	UTSW	11	97,579,158 (GRCm39)	missense	probably damaging	0.99
R8852:Cisd3	UTSW	11	97,576,703 (GRCm39)	missense	probably benign
R8860:Cisd3	UTSW	11	97,576,703 (GRCm39)	missense	probably benign
R9176:Cisd3	UTSW	11	97,579,127 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGGAAACGAGAATGCTCCACTC -3'
(R):5'- AGGCCTCAGTGTTTATTGACAG -3'

Sequencing Primer
(F):5'- GAGAATGCTCCACTCCCCAC -3'
(R):5'- ATTGACAGCTTTACCGGATGC -3'

Posted On

2015-07-06