Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01306:Ccdc38'

73468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc38

Ensembl Gene

ENSMUSG00000036168

Gene Name

coiled-coil domain containing 38

Synonyms

4933417K05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

IGL01306

Quality Score

Status

Chromosome

Chromosomal Location

93376494-93420189 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 93405797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092215] [ENSMUST00000132214]

AlphaFold

Q8CDN8

Predicted Effect

probably null
Transcript: ENSMUST00000092215

SMART Domains

Protein: ENSMUSP00000089860
Gene: ENSMUSG00000036168

Domain	Start	End	E-Value	Type
Pfam:DUF4200	112	230	4.4e-28	PFAM
low complexity region	280	289	N/A	INTRINSIC
low complexity region	317	333	N/A	INTRINSIC
coiled coil region	388	412	N/A	INTRINSIC
coiled coil region	479	522	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128786

Predicted Effect

probably null
Transcript: ENSMUST00000132214

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	G	A	12: 70,215,822 (GRCm39)	G88S	probably damaging	Het
Acot10	A	G	15: 20,666,051 (GRCm39)	F230S	probably benign	Het
Ago4	T	C	4: 126,409,677 (GRCm39)		probably null	Het
Akap12	G	T	10: 4,303,273 (GRCm39)	A28S	probably benign	Het
Anks1	C	A	17: 28,205,227 (GRCm39)	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,197,710 (GRCm39)	Y349H	possibly damaging	Het
Bltp1	T	C	3: 37,059,162 (GRCm39)		probably benign	Het
Camsap2	T	A	1: 136,225,528 (GRCm39)	E199D	probably benign	Het
Ccdc13	A	T	9: 121,656,429 (GRCm39)	M128K	probably benign	Het
Cep95	G	A	11: 106,704,641 (GRCm39)	V499I	probably benign	Het
Cpne6	A	T	14: 55,752,706 (GRCm39)	I299F	probably damaging	Het
Cse1l	T	A	2: 166,769,428 (GRCm39)	Y278*	probably null	Het
Dip2c	A	G	13: 9,625,179 (GRCm39)	N558D	possibly damaging	Het
Edar	A	T	10: 58,464,460 (GRCm39)	C60S	probably damaging	Het
Fat2	T	C	11: 55,201,698 (GRCm39)	N459D	probably benign	Het
Fbxw8	C	T	5: 118,251,785 (GRCm39)	V243M	possibly damaging	Het
Fem1b	G	A	9: 62,704,810 (GRCm39)	A150V	possibly damaging	Het
Gal3st1	A	G	11: 3,948,405 (GRCm39)	Y204C	probably damaging	Het
Gm5422	A	T	10: 31,125,432 (GRCm39)		noncoding transcript	Het
Grin2c	T	C	11: 115,147,020 (GRCm39)	T392A	probably benign	Het
Itpk1	T	C	12: 102,572,362 (GRCm39)	E117G	probably damaging	Het
Kif12	G	T	4: 63,084,121 (GRCm39)	P627Q	probably damaging	Het
Krtap15-1	T	A	16: 88,626,255 (GRCm39)	F88L	probably benign	Het
Mlh1	T	C	9: 111,081,980 (GRCm39)	N248D	possibly damaging	Het
Or2i1	T	C	17: 37,507,833 (GRCm39)	N342S	probably benign	Het
Or4k15	A	G	14: 50,364,039 (GRCm39)	N2D	probably benign	Het
Or52z12	T	C	7: 103,233,900 (GRCm39)	Y224H	probably damaging	Het
Per2	T	C	1: 91,376,555 (GRCm39)	H106R	probably damaging	Het
Pfkl	T	A	10: 77,827,229 (GRCm39)	T486S	probably benign	Het
Prkdc	T	C	16: 15,485,595 (GRCm39)	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,445,256 (GRCm39)	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,082,395 (GRCm39)	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,011,564 (GRCm39)	A110E	probably benign	Het
Siglecf	T	A	7: 43,001,377 (GRCm39)	L115*	probably null	Het
Slc6a11	C	T	6: 114,111,626 (GRCm39)	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,892,313 (GRCm39)	K18*	probably null	Het
Spata1	A	T	3: 146,193,154 (GRCm39)	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,056,620 (GRCm39)	T440I	probably benign	Het
Vmn2r111	T	A	17: 22,787,965 (GRCm39)	E462V	probably damaging	Het
Wnt16	C	T	6: 22,297,934 (GRCm39)	R267C	probably damaging	Het
Xylt1	A	C	7: 117,148,125 (GRCm39)	S230R	probably benign	Het

Other mutations in Ccdc38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01986:Ccdc38	APN	10	93,415,705 (GRCm39)	missense	probably damaging	1.00
IGL02396:Ccdc38	APN	10	93,409,994 (GRCm39)	missense	possibly damaging	0.61
IGL02568:Ccdc38	APN	10	93,415,685 (GRCm39)	missense	probably damaging	1.00
ANU23:Ccdc38	UTSW	10	93,405,797 (GRCm39)	critical splice donor site	probably null
R0004:Ccdc38	UTSW	10	93,409,964 (GRCm39)	missense	probably damaging	1.00
R0194:Ccdc38	UTSW	10	93,401,774 (GRCm39)	nonsense	probably null
R0371:Ccdc38	UTSW	10	93,398,674 (GRCm39)	nonsense	probably null
R1374:Ccdc38	UTSW	10	93,418,296 (GRCm39)	splice site	probably benign
R1388:Ccdc38	UTSW	10	93,417,702 (GRCm39)	splice site	probably benign
R1546:Ccdc38	UTSW	10	93,401,741 (GRCm39)	missense	probably benign	0.01
R2377:Ccdc38	UTSW	10	93,409,897 (GRCm39)	missense	probably damaging	1.00
R2419:Ccdc38	UTSW	10	93,384,837 (GRCm39)	missense	probably benign	0.23
R3949:Ccdc38	UTSW	10	93,386,081 (GRCm39)	missense	probably damaging	1.00
R5592:Ccdc38	UTSW	10	93,386,064 (GRCm39)	missense	possibly damaging	0.58
R5652:Ccdc38	UTSW	10	93,391,448 (GRCm39)	splice site	probably null
R5857:Ccdc38	UTSW	10	93,398,695 (GRCm39)	missense	possibly damaging	0.67
R5918:Ccdc38	UTSW	10	93,406,748 (GRCm39)	nonsense	probably null
R5919:Ccdc38	UTSW	10	93,414,700 (GRCm39)	missense	possibly damaging	0.95
R6057:Ccdc38	UTSW	10	93,417,608 (GRCm39)	missense	probably damaging	1.00
R6293:Ccdc38	UTSW	10	93,398,659 (GRCm39)	nonsense	probably null
R7511:Ccdc38	UTSW	10	93,398,662 (GRCm39)	missense	possibly damaging	0.92
R8006:Ccdc38	UTSW	10	93,391,448 (GRCm39)	splice site	probably null
R8206:Ccdc38	UTSW	10	93,399,146 (GRCm39)	missense	probably damaging	0.97
R8313:Ccdc38	UTSW	10	93,399,111 (GRCm39)	missense	probably damaging	1.00
R8904:Ccdc38	UTSW	10	93,411,197 (GRCm39)	missense	probably damaging	1.00
R9061:Ccdc38	UTSW	10	93,401,735 (GRCm39)	missense	probably damaging	1.00
Z1177:Ccdc38	UTSW	10	93,398,738 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07