Mutagenetix > Incidental Mutation

Incidental Mutation 'R1229:Ccdc93'

172426

Institutional Source

Beutler Lab

Gene Symbol

Ccdc93

Ensembl Gene

ENSMUSG00000026339

Gene Name

coiled-coil domain containing 93

Synonyms

9230102M16Rik, 4633402D15Rik

MMRRC Submission

039298-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.851) question?

Stock #

R1229 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121358796-121434189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121362371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 51 (D51G)

Ref Sequence

ENSEMBL: ENSMUSP00000108240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036025] [ENSMUST00000112621]

AlphaFold

Q7TQK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000036025
AA Change: D51G

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

SMART Domains

Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339
AA Change: D51G

Domain	Start	End	E-Value	Type
Pfam:KOG2701	27	206	2e-81	PFAM
coiled coil region	316	426	N/A	INTRINSIC
coiled coil region	558	599	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112621
AA Change: D51G

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

SMART Domains

Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339
AA Change: D51G

Domain	Start	End	E-Value	Type
Pfam:KOG2701	26	207	1.1e-86	PFAM
coiled coil region	231	269	N/A	INTRINSIC
coiled coil region	315	425	N/A	INTRINSIC
coiled coil region	557	598	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156459

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid1a	A	C	4: 133,418,548 (GRCm39)	L1012V	unknown	Het
Bzw1	A	G	1: 58,433,378 (GRCm39)	N35S	probably benign	Het
Dnah1	A	T	14: 31,032,808 (GRCm39)	M409K	probably benign	Het
Fam13b	C	T	18: 34,578,636 (GRCm39)	M705I	probably benign	Het
Gm1110	T	C	9: 26,793,102 (GRCm39)	Y558C	probably benign	Het
Iqgap2	A	G	13: 95,768,673 (GRCm39)	I1409T	probably benign	Het
Mfsd11	T	C	11: 116,764,123 (GRCm39)	F368S	probably damaging	Het
Neb	C	A	2: 52,133,955 (GRCm39)	V3343F	probably damaging	Het
Nrp1	T	G	8: 129,145,197 (GRCm39)	Y84*	probably null	Het
Or4n5	G	A	14: 50,132,711 (GRCm39)	Q183*	probably null	Het
Pate2	T	A	9: 35,580,991 (GRCm39)	F2I	probably damaging	Het
Pla2r1	T	A	2: 60,365,106 (GRCm39)	T155S	probably benign	Het
Slc28a2	T	A	2: 122,291,012 (GRCm39)	C659*	probably null	Het
Tram1	T	C	1: 13,639,776 (GRCm39)	R324G	probably damaging	Het
Wdr19	A	T	5: 65,413,734 (GRCm39)	I1226F	possibly damaging	Het

Other mutations in Ccdc93

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Ccdc93	APN	1	121,389,628 (GRCm39)	missense	probably benign	0.05
IGL01845:Ccdc93	APN	1	121,390,859 (GRCm39)	missense	probably damaging	1.00
IGL02156:Ccdc93	APN	1	121,376,005 (GRCm39)	missense	possibly damaging	0.88
IGL02610:Ccdc93	APN	1	121,420,700 (GRCm39)	missense	probably benign	0.17
IGL02691:Ccdc93	APN	1	121,414,342 (GRCm39)	missense	possibly damaging	0.80
IGL03003:Ccdc93	APN	1	121,390,846 (GRCm39)	missense	possibly damaging	0.78
IGL02796:Ccdc93	UTSW	1	121,418,895 (GRCm39)	missense	probably damaging	1.00
R0335:Ccdc93	UTSW	1	121,420,706 (GRCm39)	missense	probably damaging	1.00
R1387:Ccdc93	UTSW	1	121,418,918 (GRCm39)	missense	probably damaging	1.00
R1531:Ccdc93	UTSW	1	121,408,551 (GRCm39)	missense	probably benign
R1559:Ccdc93	UTSW	1	121,389,712 (GRCm39)	splice site	probably benign
R1728:Ccdc93	UTSW	1	121,389,668 (GRCm39)	missense	probably benign
R1728:Ccdc93	UTSW	1	121,383,855 (GRCm39)	missense	probably benign
R1729:Ccdc93	UTSW	1	121,389,668 (GRCm39)	missense	probably benign
R1729:Ccdc93	UTSW	1	121,383,855 (GRCm39)	missense	probably benign
R1730:Ccdc93	UTSW	1	121,389,668 (GRCm39)	missense	probably benign
R1730:Ccdc93	UTSW	1	121,383,855 (GRCm39)	missense	probably benign
R1739:Ccdc93	UTSW	1	121,389,668 (GRCm39)	missense	probably benign
R1739:Ccdc93	UTSW	1	121,383,855 (GRCm39)	missense	probably benign
R1762:Ccdc93	UTSW	1	121,389,668 (GRCm39)	missense	probably benign
R1762:Ccdc93	UTSW	1	121,383,855 (GRCm39)	missense	probably benign
R1783:Ccdc93	UTSW	1	121,389,668 (GRCm39)	missense	probably benign
R1783:Ccdc93	UTSW	1	121,383,855 (GRCm39)	missense	probably benign
R1785:Ccdc93	UTSW	1	121,389,668 (GRCm39)	missense	probably benign
R1785:Ccdc93	UTSW	1	121,383,855 (GRCm39)	missense	probably benign
R1865:Ccdc93	UTSW	1	121,426,956 (GRCm39)	missense	probably damaging	0.98
R1897:Ccdc93	UTSW	1	121,418,941 (GRCm39)	missense	probably benign	0.04
R2089:Ccdc93	UTSW	1	121,411,071 (GRCm39)	critical splice donor site	probably null
R2091:Ccdc93	UTSW	1	121,411,071 (GRCm39)	critical splice donor site	probably null
R2091:Ccdc93	UTSW	1	121,411,071 (GRCm39)	critical splice donor site	probably null
R3783:Ccdc93	UTSW	1	121,365,598 (GRCm39)	missense	probably damaging	1.00
R3820:Ccdc93	UTSW	1	121,389,969 (GRCm39)	missense	probably damaging	0.99
R3870:Ccdc93	UTSW	1	121,390,843 (GRCm39)	missense	probably benign	0.23
R5644:Ccdc93	UTSW	1	121,411,065 (GRCm39)	missense	probably benign
R5896:Ccdc93	UTSW	1	121,390,849 (GRCm39)	missense	possibly damaging	0.90
R6251:Ccdc93	UTSW	1	121,362,269 (GRCm39)	missense	possibly damaging	0.70
R7765:Ccdc93	UTSW	1	121,427,042 (GRCm39)	missense	probably damaging	1.00
R7978:Ccdc93	UTSW	1	121,426,960 (GRCm39)	missense	possibly damaging	0.54
R8017:Ccdc93	UTSW	1	121,375,993 (GRCm39)	missense	probably damaging	1.00
R8019:Ccdc93	UTSW	1	121,375,993 (GRCm39)	missense	probably damaging	1.00
R8369:Ccdc93	UTSW	1	121,422,126 (GRCm39)	missense	probably benign	0.03
R8369:Ccdc93	UTSW	1	121,405,597 (GRCm39)	missense	probably damaging	0.97
R8789:Ccdc93	UTSW	1	121,424,784 (GRCm39)	missense	probably damaging	0.99
R8877:Ccdc93	UTSW	1	121,403,867 (GRCm39)	missense	probably benign
R8919:Ccdc93	UTSW	1	121,426,970 (GRCm39)	missense	probably damaging	1.00
R9435:Ccdc93	UTSW	1	121,369,584 (GRCm39)	nonsense	probably null
R9436:Ccdc93	UTSW	1	121,369,584 (GRCm39)	nonsense	probably null
R9437:Ccdc93	UTSW	1	121,369,584 (GRCm39)	nonsense	probably null
R9438:Ccdc93	UTSW	1	121,369,584 (GRCm39)	nonsense	probably null
X0063:Ccdc93	UTSW	1	121,365,535 (GRCm39)	missense	probably damaging	1.00
Z1191:Ccdc93	UTSW	1	121,403,797 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCAGCGGAAGGATTTACTTCATT -3'
(R):5'- GGCCTGAGAAAATACTCTCTTGCTTGT -3'

Sequencing Primer
(F):5'- GGAAGGATTTACTTCATTTCCGTTC -3'
(R):5'- GTAATGGAACCCAATTGCATCTACTG -3'

Posted On

2014-04-24