Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02610:Ccdc93'

300440

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc93

Ensembl Gene

ENSMUSG00000026339

Gene Name

coiled-coil domain containing 93

Synonyms

9230102M16Rik, 4633402D15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

IGL02610

Quality Score

Status

Chromosome

Chromosomal Location

121358796-121434189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121420700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 527 (V527G)

Ref Sequence

ENSEMBL: ENSMUSP00000108240 (fasta)

Gene Model

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

AlphaFold

Q7TQK5

Predicted Effect

probably benign
Transcript: ENSMUST00000036025
AA Change: V528G

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339
AA Change: V528G

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 benign
Transcript: ENSMUST00000112621
AA Change: V527G

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339
AA Change: V527G

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: ENSMUST00000152863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152959

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Ctcfl	C	A	2: 172,947,819 (GRCm39)		probably benign	Het
Dmd	T	C	X: 82,707,762 (GRCm39)	S359P	probably damaging	Het
Drc3	T	C	11: 60,261,419 (GRCm39)	F190S	probably benign	Het
Dync1h1	A	T	12: 110,625,666 (GRCm39)	K3943*	probably null	Het
Dzip3	A	G	16: 48,772,016 (GRCm39)	V551A	probably damaging	Het
Ep300	T	A	15: 81,485,723 (GRCm39)	L237M	unknown	Het
Gab1	A	G	8: 81,526,728 (GRCm39)		probably null	Het
Gm6430	G	A	1: 96,952,560 (GRCm39)		noncoding transcript	Het
Ighv16-1	A	T	12: 114,032,733 (GRCm39)	V23E	probably damaging	Het
Ikbkb	T	A	8: 23,165,088 (GRCm39)		probably null	Het
Ncr1	A	T	7: 4,341,132 (GRCm39)	N41I	probably benign	Het
Nfkbib	T	C	7: 28,459,274 (GRCm39)	D319G	probably damaging	Het
Nkain3	T	C	4: 20,469,459 (GRCm39)	E85G	probably damaging	Het
Or51h1	G	A	7: 102,308,774 (GRCm39)	V249M	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Ppp2r2b	A	G	18: 42,781,840 (GRCm39)		probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rhod	A	G	19: 4,476,203 (GRCm39)	F183L	probably damaging	Het
Slc35f3	A	T	8: 127,047,956 (GRCm39)	T99S	probably damaging	Het
Spata31e4	T	C	13: 50,855,748 (GRCm39)	V462A	possibly damaging	Het
Spock3	A	G	8: 63,798,771 (GRCm39)	Y264C	probably damaging	Het
Trnt1	T	C	6: 106,755,779 (GRCm39)	F278S	possibly damaging	Het
Ush2a	T	A	1: 188,176,663 (GRCm39)	Y1276N	probably damaging	Het
Veph1	A	G	3: 66,079,588 (GRCm39)	L309P	probably damaging	Het
Vmn1r7	G	T	6: 57,002,037 (GRCm39)	F74L	probably benign	Het
Vsnl1	C	T	12: 11,382,072 (GRCm39)	W103*	probably null	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
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
R1229:Ccdc93	UTSW	1	121,362,371 (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

Posted On

2015-04-16