Mutagenetix > Incidental Mutation

Incidental Mutation 'R9176:Cisd3'

696696

Institutional Source

Beutler Lab

Gene Symbol

Cisd3

Ensembl Gene

ENSMUSG00000078695

Gene Name

CDGSH iron sulfur domain 3

Synonyms

Mel13

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97576652-97579447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97579127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 90 (T90A)

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 damaging
Transcript: ENSMUST00000107583
AA Change: T90A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103209
Gene: ENSMUSG00000078695
AA Change: T90A

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: T68A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103210
Gene: ENSMUSG00000078695
AA Change: T68A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107585
AA Change: T87A

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103211
Gene: ENSMUSG00000078695
AA Change: T87A

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	C	5: 146,121,004 (GRCm39)	D119G	probably damaging	Het
1700123K08Rik	T	C	5: 138,561,155 (GRCm39)	D169G	probably damaging	Het
Abcd2	T	G	15: 91,075,623 (GRCm39)	R63S	probably benign	Het
Ankrd55	T	C	13: 112,459,610 (GRCm39)	V68A	possibly damaging	Het
Avil	T	C	10: 126,852,248 (GRCm39)	Y678H	probably damaging	Het
Bltp1	T	A	3: 37,010,852 (GRCm39)	V1750E	possibly damaging	Het
Cd300ld2	C	A	11: 114,904,772 (GRCm39)	E32*	probably null	Het
Chuk	A	T	19: 44,076,442 (GRCm39)	L423Q	probably damaging	Het
Cmpk2	T	A	12: 26,524,027 (GRCm39)	S275T	probably benign	Het
Cntnap5c	T	A	17: 58,620,730 (GRCm39)	N936K	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col4a4	G	T	1: 82,463,349 (GRCm39)	P1047Q	unknown	Het
Col6a4	A	G	9: 105,938,755 (GRCm39)	L1321P	probably damaging	Het
Crat	A	G	2: 30,297,892 (GRCm39)	F211L	probably damaging	Het
Csmd3	T	C	15: 47,864,937 (GRCm39)	Q27R		Het
Dapk1	T	C	13: 60,866,262 (GRCm39)	V205A	probably damaging	Het
Ddx20	T	C	3: 105,586,158 (GRCm39)	N729S	probably benign	Het
Derl2	A	G	11: 70,904,376 (GRCm39)	V139A	possibly damaging	Het
Dscam	C	T	16: 96,486,553 (GRCm39)	D1041N	probably benign	Het
Fbxo2	A	T	4: 148,250,147 (GRCm39)	R226W	probably damaging	Het
Fhip1b	A	C	7: 105,030,585 (GRCm39)	H180Q	probably benign	Het
Fhip2b	T	C	14: 70,826,540 (GRCm39)	K183E	probably benign	Het
Gpr19	A	G	6: 134,846,718 (GRCm39)	S322P	probably damaging	Het
Gvin2	T	C	7: 105,551,262 (GRCm39)	K597E	possibly damaging	Het
Herc6	A	G	6: 57,636,663 (GRCm39)	N793S	probably benign	Het
Ikbke	A	T	1: 131,191,025 (GRCm39)	S563T	probably benign	Het
Il1r2	T	C	1: 40,144,478 (GRCm39)	L55P	probably damaging	Het
Klhl8	C	A	5: 104,012,111 (GRCm39)	A575S	probably benign	Het
Lims1	T	G	10: 58,254,265 (GRCm39)	C340G	probably damaging	Het
Loxl3	G	A	6: 83,026,292 (GRCm39)	C460Y	probably damaging	Het
Mapk9	T	A	11: 49,763,565 (GRCm39)	L152*	probably null	Het
Mef2d	T	C	3: 88,066,463 (GRCm39)	V144A	possibly damaging	Het
Mertk	A	G	2: 128,620,892 (GRCm39)	D578G	possibly damaging	Het
Mettl1	C	A	10: 126,881,250 (GRCm39)	Q254K	probably benign	Het
Naip2	T	C	13: 100,298,707 (GRCm39)	E443G	probably damaging	Het
Ndor1	A	G	2: 25,138,241 (GRCm39)	F484L	probably damaging	Het
Neurl1b	C	T	17: 26,660,055 (GRCm39)	T425I	possibly damaging	Het
Nomo1	G	A	7: 45,730,828 (GRCm39)	V1104M	possibly damaging	Het
Or13a19	G	T	7: 139,903,121 (GRCm39)	G170C	probably damaging	Het
Or13p8	T	A	4: 118,583,850 (GRCm39)	Y135*	probably null	Het
Or4c10b	T	C	2: 89,711,515 (GRCm39)	V115A	probably benign	Het
Or5b95	A	G	19: 12,657,600 (GRCm39)	M43V	probably benign	Het
Or5p57	A	G	7: 107,665,246 (GRCm39)	V223A	probably benign	Het
Or8g20	T	A	9: 39,396,247 (GRCm39)	M98L	probably benign	Het
Or9i2	A	G	19: 13,815,796 (GRCm39)	V247A	probably damaging	Het
Parp4	A	G	14: 56,873,274 (GRCm39)	K1173E	possibly damaging	Het
Phkb	T	A	8: 86,697,623 (GRCm39)	N477K	probably damaging	Het
Plekha7	T	G	7: 115,739,926 (GRCm39)	I812L	possibly damaging	Het
Plxnb1	A	G	9: 108,941,651 (GRCm39)	T1711A	probably damaging	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Pomt2	T	A	12: 87,194,451 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,316,123 (GRCm39)	H671R	probably damaging	Het
Prkca	G	A	11: 107,870,244 (GRCm39)	R15C	possibly damaging	Het
Prkch	T	A	12: 73,746,968 (GRCm39)	N282K	probably damaging	Het
Ptpn6	T	C	6: 124,702,249 (GRCm39)	R385G	probably benign	Het
Rad21	A	T	15: 51,841,455 (GRCm39)	M87K	probably damaging	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,878,292 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,103,689 (GRCm39)	V1857E	probably damaging	Het
Shprh	A	G	10: 11,036,320 (GRCm39)	T386A	probably benign	Het
Slco1b2	T	C	6: 141,598,229 (GRCm39)	L94P	probably damaging	Het
Snx29	A	G	16: 11,236,728 (GRCm39)	N90D	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tbc1d5	T	C	17: 51,089,363 (GRCm39)	T584A	probably benign	Het
Tktl2	T	C	8: 66,964,664 (GRCm39)	V74A	probably damaging	Het
Tpp2	A	G	1: 44,031,553 (GRCm39)	N1124D	probably null	Het
Trpv1	A	T	11: 73,130,481 (GRCm39)	T196S	probably benign	Het
Ulk4	T	C	9: 120,974,128 (GRCm39)	E968G	probably benign	Het
Zbtb8a	G	T	4: 129,254,221 (GRCm39)	T91K	probably damaging	Het
Zfp317	T	A	9: 19,559,163 (GRCm39)	V459E	probably damaging	Het
Zfp790	A	G	7: 29,529,387 (GRCm39)	T691A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTCTGGATCTCCCAAAGGTG -3'
(R):5'- CTTGGAGGTTCCCTTCCATG -3'

Sequencing Primer
(F):5'- TGGATCTCCCAAAGGTGACCAATG -3'
(R):5'- CATGTGTGGCTCAGCATTAC -3'

Posted On

2022-02-07