Mutagenetix > Incidental Mutation

Incidental Mutation 'R8904:Ccdc38'

678383

Institutional Source

Beutler Lab

Gene Symbol

Ccdc38

Ensembl Gene

ENSMUSG00000036168

Gene Name

coiled-coil domain containing 38

Synonyms

4933417K05Rik

MMRRC Submission

068761-MU

Accession Numbers

Essential gene?

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

Stock #

R8904 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93376494-93420189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93411197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 402 (E402G)

Ref Sequence

ENSEMBL: ENSMUSP00000089860 (fasta)

Gene Model

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

AlphaFold

Q8CDN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000092215
AA Change: E402G

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

SMART Domains

Protein: ENSMUSP00000089860
Gene: ENSMUSG00000036168
AA Change: E402G

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 damaging
Transcript: ENSMUST00000132214
AA Change: E302G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,472,148 (GRCm39)		probably null	Het
Adcy1	T	G	11: 7,059,075 (GRCm39)	L327R	probably damaging	Het
Ajm1	A	T	2: 25,467,914 (GRCm39)	S666T	probably benign	Het
Amotl1	T	C	9: 14,469,861 (GRCm39)	Q624R	probably damaging	Het
Ampd1	A	G	3: 102,988,374 (GRCm39)	T106A	probably benign	Het
Aqr	T	A	2: 113,967,474 (GRCm39)	I514F	probably damaging	Het
Atp2b1	A	G	10: 98,804,866 (GRCm39)	T30A	possibly damaging	Het
Atp9a	A	T	2: 168,547,097 (GRCm39)	Y186N	probably benign	Het
Bub1	T	A	2: 127,671,622 (GRCm39)	N21I	possibly damaging	Het
Cachd1	G	A	4: 100,810,363 (GRCm39)	D322N	probably damaging	Het
Ccl27a	A	T	4: 41,774,194 (GRCm39)		probably null	Het
Clec4a4	T	C	6: 122,990,836 (GRCm39)		probably benign	Het
Clic5	A	T	17: 44,552,992 (GRCm39)	K82M	probably benign	Het
Cnot10	A	T	9: 114,430,423 (GRCm39)	S566T	probably benign	Het
Cul9	T	C	17: 46,831,427 (GRCm39)	T1596A	probably damaging	Het
Cyp2c55	A	G	19: 39,022,816 (GRCm39)	E318G		Het
Entpd8	A	C	2: 24,973,575 (GRCm39)		probably benign	Het
Epb41l5	A	G	1: 119,547,936 (GRCm39)	F156L	probably damaging	Het
Ephb4	T	A	5: 137,369,067 (GRCm39)	M819K	probably damaging	Het
Esr1	A	G	10: 4,696,654 (GRCm39)	R168G	possibly damaging	Het
Fbxw10	C	A	11: 62,765,831 (GRCm39)	Y700*	probably null	Het
Fras1	G	T	5: 96,929,138 (GRCm39)	R3847S	probably benign	Het
Gm11110	T	C	17: 57,410,439 (GRCm39)	T20A	unknown	Het
Gpr150	G	T	13: 76,204,528 (GRCm39)	S139*	probably null	Het
Grm1	A	T	10: 10,595,281 (GRCm39)	N782K	probably damaging	Het
Hmcn2	A	G	2: 31,323,404 (GRCm39)	S4173G	possibly damaging	Het
Hmx1	T	A	5: 35,549,511 (GRCm39)	V268D	probably damaging	Het
Hsbp1l1	T	C	18: 80,278,685 (GRCm39)	T33A	possibly damaging	Het
Hsd17b3	T	C	13: 64,212,194 (GRCm39)	T161A	probably damaging	Het
Igll1	A	T	16: 16,681,576 (GRCm39)	W60R	probably benign	Het
Itga11	A	G	9: 62,664,893 (GRCm39)	T593A	probably benign	Het
Kat6a	A	G	8: 23,428,824 (GRCm39)	D1393G	possibly damaging	Het
Krt36	A	G	11: 99,996,173 (GRCm39)	F84L	probably benign	Het
Macrod1	T	C	19: 7,174,385 (GRCm39)	S266P	probably damaging	Het
Mib2	A	G	4: 155,744,173 (GRCm39)	V163A	probably damaging	Het
Mmut	A	G	17: 41,248,284 (GRCm39)	T104A	probably damaging	Het
Mpl	A	G	4: 118,301,263 (GRCm39)	L534P		Het
Myo3b	C	A	2: 70,257,252 (GRCm39)	H1317N	probably benign	Het
Nkx2-6	A	G	14: 69,409,420 (GRCm39)	D57G	probably benign	Het
Or1ab2	A	G	8: 72,864,276 (GRCm39)	I289V	probably damaging	Het
Or5b24	T	C	19: 12,912,192 (GRCm39)	V30A	probably benign	Het
Or5d46	T	G	2: 88,169,949 (GRCm39)	F13L	possibly damaging	Het
Or5p79	A	G	7: 108,221,919 (GRCm39)	N300S	probably damaging	Het
Or6s1	A	G	14: 51,308,665 (GRCm39)	Y62H	probably damaging	Het
Or7g33	A	T	9: 19,448,760 (GRCm39)	D155E	possibly damaging	Het
Osbpl11	T	A	16: 33,047,607 (GRCm39)	H523Q	probably damaging	Het
Pde1c	A	T	6: 56,156,128 (GRCm39)	S148T	possibly damaging	Het
Pign	G	A	1: 105,519,359 (GRCm39)	A521V	possibly damaging	Het
Pprc1	A	G	19: 46,060,183 (GRCm39)	M1536V	possibly damaging	Het
Prg4	C	A	1: 150,331,810 (GRCm39)	A288S	possibly damaging	Het
Prim2	A	T	1: 33,669,513 (GRCm39)	I154N	possibly damaging	Het
Prkdc	T	C	16: 15,545,590 (GRCm39)	V1902A	probably benign	Het
Prss40	C	T	1: 34,595,045 (GRCm39)		probably benign	Het
Ret	C	T	6: 118,157,174 (GRCm39)		probably benign	Het
Rgs22	A	T	15: 36,026,127 (GRCm39)	C1056S	probably damaging	Het
Schip1	T	C	3: 68,402,436 (GRCm39)	L199P	possibly damaging	Het
Sema4d	A	T	13: 51,854,935 (GRCm39)	L54*	probably null	Het
Sgsm1	C	T	5: 113,421,495 (GRCm39)	G531R	probably benign	Het
Tas1r2	T	C	4: 139,394,714 (GRCm39)	F519S	probably damaging	Het
Tnfsf11	C	T	14: 78,516,119 (GRCm39)	R283Q	possibly damaging	Het
Tril	C	T	6: 53,797,202 (GRCm39)	V7M	possibly damaging	Het
Tsr1	T	A	11: 74,790,217 (GRCm39)	Y137*	probably null	Het
Ubr5	A	G	15: 38,042,153 (GRCm39)	S148P		Het
Unc13b	A	G	4: 43,178,531 (GRCm39)		probably benign	Het
Zfp606	A	G	7: 12,223,506 (GRCm39)	T64A	possibly damaging	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
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
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'- CTTTGGCCATGTCATCACAC -3'
(R):5'- ACGCACTGGTTTTCCACAC -3'

Sequencing Primer
(F):5'- ACACGCTGACCCCTTTGTGG -3'
(R):5'- CACCCCGTCAACAATTTATGGATTG -3'

Posted On

2021-08-02