Mutagenetix > Incidental Mutation

Incidental Mutation 'R7176:Cisd3'

558633

Institutional Source

Beutler Lab

Gene Symbol

Cisd3

Ensembl Gene

ENSMUSG00000078695

Gene Name

CDGSH iron sulfur domain 3

Synonyms

Mel13

MMRRC Submission

045267-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R7176 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97576652-97579447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97576959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 11 (D11V)

Ref Sequence

ENSEMBL: ENSMUSP00000103209 (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 benign
Transcript: ENSMUST00000107583
AA Change: D11V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103209
Gene: ENSMUSG00000078695
AA Change: D11V

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 benign
Transcript: ENSMUST00000107584

SMART Domains

Protein: ENSMUSP00000103210
Gene: ENSMUSG00000078695

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 benign
Transcript: ENSMUST00000107585

SMART Domains

Protein: ENSMUSP00000103211
Gene: ENSMUSG00000078695

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,203 (GRCm39)	H267N	probably benign	Het
Abtb2	A	G	2: 103,539,720 (GRCm39)	D695G	probably benign	Het
Adam21	C	T	12: 81,607,022 (GRCm39)	D247N	possibly damaging	Het
Adnp	T	C	2: 168,024,578 (GRCm39)	N906D	probably benign	Het
Ankrd17	A	T	5: 90,416,594 (GRCm39)	H1079Q	probably damaging	Het
Aqp3	T	A	4: 41,095,202 (GRCm39)	N60Y	probably damaging	Het
Art4	T	G	6: 136,834,166 (GRCm39)	T26P	probably benign	Het
Arvcf	T	C	16: 18,218,477 (GRCm39)	L553P	probably damaging	Het
Asxl1	T	A	2: 153,243,908 (GRCm39)	I1487N	probably damaging	Het
Capn3	A	T	2: 120,334,973 (GRCm39)	Y820F	possibly damaging	Het
Catip	A	G	1: 74,401,941 (GRCm39)	T39A	probably damaging	Het
Ccdc168	A	T	1: 44,099,506 (GRCm39)	S531T	probably benign	Het
Ccdc18	T	A	5: 108,315,972 (GRCm39)	C481S	probably benign	Het
Ccnf	A	G	17: 24,468,376 (GRCm39)	I7T	possibly damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdkl4	A	T	17: 80,851,221 (GRCm39)	Y160*	probably null	Het
Celsr3	C	T	9: 108,722,961 (GRCm39)	P2783S	probably benign	Het
Daxx	A	T	17: 34,132,292 (GRCm39)	H512L	unknown	Het
Dip2b	A	G	15: 100,067,199 (GRCm39)	H567R	probably damaging	Het
Dnah7c	C	A	1: 46,469,969 (GRCm39)	A18E	probably benign	Het
Eif3d	A	T	15: 77,847,434 (GRCm39)	V268D	probably damaging	Het
Eif4g3	T	A	4: 137,898,497 (GRCm39)	H1089Q	probably damaging	Het
Fmnl2	A	G	2: 53,004,162 (GRCm39)	M625V	unknown	Het
Foxn1	T	C	11: 78,251,693 (GRCm39)	R513G	possibly damaging	Het
Gemin5	C	T	11: 58,056,828 (GRCm39)	V134I	probably benign	Het
Gtf2h3	A	G	5: 124,728,433 (GRCm39)	R161G	probably damaging	Het
Ice1	A	G	13: 70,772,525 (GRCm39)		probably null	Het
Il1rl1	T	C	1: 40,485,766 (GRCm39)	Y306H	probably damaging	Het
Kbtbd7	A	T	14: 79,665,194 (GRCm39)	E342V	possibly damaging	Het
Kyat3	A	T	3: 142,443,600 (GRCm39)	K404N	possibly damaging	Het
Lins1	T	C	7: 66,363,553 (GRCm39)	W483R	probably benign	Het
Lipo2	A	G	19: 33,723,207 (GRCm39)	I194T	possibly damaging	Het
Mcm8	G	T	2: 132,661,992 (GRCm39)	A137S	probably benign	Het
Mdm1	C	A	10: 117,978,770 (GRCm39)	Q12K	probably damaging	Het
Mrgprb5	C	A	7: 47,818,059 (GRCm39)	L225F	possibly damaging	Het
Myh11	T	A	16: 14,033,690 (GRCm39)	H1068L		Het
Ngef	A	T	1: 87,408,417 (GRCm39)	V550E	possibly damaging	Het
Nrg1	G	A	8: 32,458,064 (GRCm39)	Q84*	probably null	Het
Obp2b	G	T	2: 25,627,760 (GRCm39)	V59L	possibly damaging	Het
Ocln	C	A	13: 100,651,590 (GRCm39)	G327C	probably damaging	Het
Ocln	A	C	13: 100,651,591 (GRCm39)	N326K	probably benign	Het
Or10ag55-ps1	C	T	2: 87,115,378 (GRCm39)	A248V	probably damaging	Het
Otogl	T	C	10: 107,614,772 (GRCm39)	D1960G	probably damaging	Het
Pik3c2a	T	C	7: 115,987,331 (GRCm39)	D530G	possibly damaging	Het
Plod1	A	T	4: 147,997,744 (GRCm39)	M655K	probably benign	Het
Ppp4r3b	A	G	11: 29,148,904 (GRCm39)	N449D	probably damaging	Het
Ppp6r3	G	T	19: 3,521,989 (GRCm39)	T563K	probably damaging	Het
Prepl	T	A	17: 85,376,454 (GRCm39)	L533F	probably benign	Het
Rbl1	G	A	2: 157,030,245 (GRCm39)	R421W	probably damaging	Het
Rrp15	G	A	1: 186,453,730 (GRCm39)	S239L	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sbno1	A	G	5: 124,530,944 (GRCm39)	S815P	probably benign	Het
Scn7a	G	A	2: 66,506,632 (GRCm39)	T1419I	probably damaging	Het
Setdb1	A	G	3: 95,244,458 (GRCm39)		probably null	Het
Shpk	A	G	11: 73,113,814 (GRCm39)	H409R	probably benign	Het
Slamf6	A	C	1: 171,761,858 (GRCm39)	N93T	probably benign	Het
Slc27a4	A	G	2: 29,701,238 (GRCm39)	N343S	probably benign	Het
Slc35g1	T	A	19: 38,391,771 (GRCm39)	V351E	probably damaging	Het
Smcr8	A	T	11: 60,669,772 (GRCm39)	I307F	probably damaging	Het
Spats2l	T	C	1: 57,977,077 (GRCm39)	I305T	possibly damaging	Het
Speer4c1	T	C	5: 15,916,536 (GRCm39)	T144A	probably benign	Het
Tbl3	G	A	17: 24,919,732 (GRCm39)	T774I	probably benign	Het
Ush2a	A	G	1: 188,269,925 (GRCm39)	H1724R	probably benign	Het
Vcan	A	G	13: 89,837,055 (GRCm39)	S2830P	probably benign	Het
Vmn2r27	T	A	6: 124,168,995 (GRCm39)	I712F	probably benign	Het
Wdr59	T	G	8: 112,219,388 (GRCm39)	Q223P		Het
Zfp28	T	A	7: 6,386,456 (GRCm39)	C22S	possibly damaging	Het
Zfp536	T	G	7: 37,180,276 (GRCm39)		probably null	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
R4395:Cisd3	UTSW	11	97,579,212 (GRCm39)	missense	probably damaging	1.00
R6950:Cisd3	UTSW	11	97,576,986 (GRCm39)	splice site	probably null
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'- AGCGTCCCATCTTTGGTGAC -3'
(R):5'- TGGTCCACCAAACCTTCCCTAG -3'

Sequencing Primer
(F):5'- CACAGGGCAGTCTTTCCG -3'
(R):5'- AACCTTCCCTAGAGCATGCTGG -3'

Posted On

2019-06-26