Mutagenetix > Incidental Mutation

Incidental Mutation 'R1388:Ccdc38'

162502

Institutional Source

Beutler Lab

Gene Symbol

Ccdc38

Ensembl Gene

ENSMUSG00000036168

Gene Name

coiled-coil domain containing 38

Synonyms

4933417K05Rik

MMRRC Submission

039450-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R1388 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

93376494-93420189 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 93417702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020203] [ENSMUST00000092215] [ENSMUST00000132214]

AlphaFold

Q8CDN8

Predicted Effect

probably benign
Transcript: ENSMUST00000020203

SMART Domains

Protein: ENSMUSP00000020203
Gene: ENSMUSG00000020018

Domain	Start	End	E-Value	Type
Sm	9	74	6.54e-25	SMART
low complexity region	76	86	N/A	INTRINSIC

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000132214

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	T	G	12: 84,105,761 (GRCm39)	H409Q	possibly damaging	Het
Adgra1	T	C	7: 139,453,919 (GRCm39)	V152A	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
Ccdc174	C	A	6: 91,858,225 (GRCm39)		probably null	Het
Clca4b	A	T	3: 144,622,415 (GRCm39)	V550D	probably benign	Het
Dab2ip	C	T	2: 35,611,268 (GRCm39)		probably benign	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gm2959	A	T	14: 42,235,660 (GRCm39)		noncoding transcript	Het
Gmnc	A	G	16: 26,782,662 (GRCm39)	L80P	probably damaging	Het
Gtf2ird1	T	C	5: 134,424,564 (GRCm39)	D394G	probably damaging	Het
Heatr1	T	C	13: 12,432,328 (GRCm39)		probably benign	Het
Il1a	T	C	2: 129,148,501 (GRCm39)	S70G	possibly damaging	Het
Kctd19	T	C	8: 106,118,683 (GRCm39)	S293G	probably null	Het
Klra4	T	C	6: 130,039,198 (GRCm39)		probably benign	Het
Kplce	G	T	3: 92,776,356 (GRCm39)	T109K	probably damaging	Het
Mr1	T	C	1: 155,008,249 (GRCm39)	E242G	probably damaging	Het
Mrnip	C	A	11: 50,087,772 (GRCm39)	A98E	probably benign	Het
Mybpc3	C	T	2: 90,953,219 (GRCm39)	P155S	probably benign	Het
Myh14	A	T	7: 44,314,546 (GRCm39)	Y126N	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or10g9	A	G	9: 39,911,948 (GRCm39)	S192P	probably damaging	Het
Or10j3	T	C	1: 173,031,445 (GRCm39)	V174A	probably benign	Het
Pnisr	T	C	4: 21,862,041 (GRCm39)	M243T	possibly damaging	Het
Ptprr	A	G	10: 116,109,657 (GRCm39)	S633G	probably benign	Het
Rasip1	T	A	7: 45,279,656 (GRCm39)	S300T	probably damaging	Het
Sbsn	A	T	7: 30,451,576 (GRCm39)	H197L	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sim1	T	A	10: 50,772,090 (GRCm39)	I33N	probably damaging	Het
Speg	A	G	1: 75,407,104 (GRCm39)	D2878G	probably damaging	Het
Taf2	T	A	15: 54,900,021 (GRCm39)	N864I	probably benign	Het
Tmem43	G	T	6: 91,455,785 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,542,135 (GRCm39)	E25290G	probably damaging	Het
Ush2a	A	G	1: 188,255,515 (GRCm39)		probably benign	Het
Usp53	T	C	3: 122,751,277 (GRCm39)	E260G	probably damaging	Het
Vmn2r12	T	G	5: 109,240,840 (GRCm39)	Y91S	possibly damaging	Het
Vmn2r59	A	T	7: 41,695,133 (GRCm39)	N426K	probably benign	Het
Whamm	C	A	7: 81,236,038 (GRCm39)	L414I	probably damaging	Het
Zfhx4	A	G	3: 5,466,447 (GRCm39)	T2227A	probably damaging	Het
Zfp866	C	T	8: 70,218,834 (GRCm39)	R262Q	probably benign	Het

Other mutations in Ccdc38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Ccdc38	APN	10	93,405,797 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGGCAATCCACTCAGGTGATG -3'
(R):5'- AGAGACCTGTAGTTCATACCTGCCC -3'

Sequencing Primer
(F):5'- agggaagcagaggcagg -3'
(R):5'- AGTTCATACCTGCCCCTCCC -3'

Posted On

2014-03-17