Mutagenetix > Incidental Mutation

Incidental Mutation 'R0801:Ccdc92'

76272

Institutional Source

Beutler Lab

Gene Symbol

Ccdc92

Ensembl Gene

ENSMUSG00000037979

Gene Name

coiled-coil domain containing 92

Synonyms

D5Bwg0834e

MMRRC Submission

038981-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R0801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124911482-124939261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124913335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 65 (T65A)

Ref Sequence

ENSEMBL: ENSMUSP00000114983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036206] [ENSMUST00000058440] [ENSMUST00000135495] [ENSMUST00000141137] [ENSMUST00000143268]

AlphaFold

Q8VDN4

Predicted Effect

probably benign
Transcript: ENSMUST00000036206
AA Change: T65A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038075
Gene: ENSMUSG00000037979
AA Change: T65A

Domain	Start	End	E-Value	Type
Pfam:CCDC92	7	63	1.5e-25	PFAM
low complexity region	72	84	N/A	INTRINSIC
low complexity region	106	120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058440

SMART Domains

Protein: ENSMUSP00000062995
Gene: ENSMUSG00000038011

Domain	Start	End	E-Value	Type
low complexity region	63	72	N/A	INTRINSIC
low complexity region	80	86	N/A	INTRINSIC
coiled coil region	260	282	N/A	INTRINSIC
Pfam:DHC_N1	305	878	9.1e-154	PFAM
coiled coil region	1191	1218	N/A	INTRINSIC
coiled coil region	1337	1360	N/A	INTRINSIC
Pfam:DHC_N2	1374	1782	1.7e-142	PFAM
AAA	1946	2082	2.51e-1	SMART
AAA	2225	2373	6.91e-1	SMART
low complexity region	2444	2464	N/A	INTRINSIC
AAA	2567	2720	2.29e-2	SMART
Pfam:AAA_8	2886	3153	9.8e-87	PFAM
Pfam:MT	3165	3502	9.1e-53	PFAM
Pfam:AAA_9	3522	3747	2.3e-90	PFAM
Pfam:Dynein_heavy	3884	4588	7.6e-240	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135495

SMART Domains

Protein: ENSMUSP00000119438
Gene: ENSMUSG00000037979

Domain	Start	End	E-Value	Type
Pfam:CCDC92	6	59	2.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141137

SMART Domains

Protein: ENSMUSP00000114593
Gene: ENSMUSG00000038011

Domain	Start	End	E-Value	Type
low complexity region	63	72	N/A	INTRINSIC
low complexity region	80	86	N/A	INTRINSIC
coiled coil region	260	282	N/A	INTRINSIC
Pfam:DHC_N1	304	607	4.3e-57	PFAM
Pfam:DHC_N1	598	823	1.2e-39	PFAM
coiled coil region	1134	1161	N/A	INTRINSIC
coiled coil region	1280	1303	N/A	INTRINSIC
Pfam:DHC_N2	1315	1727	7.3e-135	PFAM
AAA	1889	2025	4e-3	SMART
AAA	2168	2316	1.1e-2	SMART
low complexity region	2387	2407	N/A	INTRINSIC
AAA	2510	2663	3.6e-4	SMART
Pfam:AAA_8	2829	3096	2.5e-83	PFAM
Pfam:MT	3108	3445	1.2e-50	PFAM
Pfam:AAA_9	3461	3691	6.7e-59	PFAM
Pfam:Dynein_heavy	3821	4532	1.9e-231	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143268
AA Change: T65A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114983
Gene: ENSMUSG00000037979
AA Change: T65A

Domain	Start	End	E-Value	Type
Pfam:CCDC92	6	66	2.3e-25	PFAM
low complexity region	72	84	N/A	INTRINSIC
low complexity region	106	120	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196708

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.6%
20x: 94.7%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	A	G	10: 43,050,987 (GRCm39)	K94E	possibly damaging	Het
Aldh16a1	A	T	7: 44,796,900 (GRCm39)	C228S	probably benign	Het
Arnt	G	T	3: 95,401,157 (GRCm39)	R702L	possibly damaging	Het
Ccdc174	A	G	6: 91,872,313 (GRCm39)	E314G	possibly damaging	Het
Ccdc81	T	C	7: 89,536,866 (GRCm39)		probably null	Het
Cenpm	A	T	15: 82,118,667 (GRCm39)	I149N	probably benign	Het
Cfap44	C	T	16: 44,242,849 (GRCm39)	S751L	probably benign	Het
Cntrl	A	G	2: 35,065,107 (GRCm39)		probably benign	Het
Col1a2	A	G	6: 4,531,316 (GRCm39)	T762A	unknown	Het
Crebbp	T	C	16: 3,906,140 (GRCm39)	K1621E	probably damaging	Het
Cux1	T	A	5: 136,355,783 (GRCm39)	I374L	probably damaging	Het
Dgkq	A	T	5: 108,808,586 (GRCm39)		probably null	Het
Dis3l	T	C	9: 64,226,436 (GRCm39)	I365V	probably benign	Het
Dock2	T	C	11: 34,599,620 (GRCm39)	R320G	probably damaging	Het
Dst	A	G	1: 34,209,470 (GRCm39)	N853S	probably damaging	Het
Egf	T	C	3: 129,496,234 (GRCm39)		probably benign	Het
Eif2ak2	T	A	17: 79,173,778 (GRCm39)	R267*	probably null	Het
Ern2	A	G	7: 121,780,085 (GRCm39)		probably benign	Het
Ero1b	A	G	13: 12,596,568 (GRCm39)	S123G	probably benign	Het
Fam13a	G	T	6: 58,960,997 (GRCm39)	N118K	probably benign	Het
Gcn1	T	A	5: 115,729,065 (GRCm39)	M792K	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Irf3	C	T	7: 44,650,058 (GRCm39)		probably benign	Het
Map2k5	T	A	9: 63,265,261 (GRCm39)		probably benign	Het
Mcf2l	T	A	8: 13,064,020 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,533,507 (GRCm39)	I878K	probably damaging	Het
Mdn1	T	C	4: 32,668,895 (GRCm39)	S318P	probably benign	Het
Or13a19	G	A	7: 139,902,831 (GRCm39)	C73Y	probably damaging	Het
Or5aq1b	G	A	2: 86,902,407 (GRCm39)	Q24*	probably null	Het
Pklr	G	A	3: 89,052,829 (GRCm39)	W527*	probably null	Het
Pnpla5	T	C	15: 83,998,121 (GRCm39)	M374V	probably benign	Het
Ptprn	G	T	1: 75,228,909 (GRCm39)	H835Q	probably damaging	Het
R3hdm4	A	G	10: 79,749,191 (GRCm39)		probably benign	Het
Rgs8	T	A	1: 153,546,557 (GRCm39)	C19S	probably damaging	Het
Smarca4	C	A	9: 21,553,850 (GRCm39)	Q575K	possibly damaging	Het
Srgap1	A	T	10: 121,643,780 (GRCm39)	F612L	probably damaging	Het
Svil	A	G	18: 5,099,443 (GRCm39)	R1256G	probably benign	Het
Tox4	T	C	14: 52,517,335 (GRCm39)	S22P	probably benign	Het
Ttc39d	A	G	17: 80,523,644 (GRCm39)	Y101C	probably damaging	Het
Usb1	T	C	8: 96,060,168 (GRCm39)		probably null	Het
Vps13a	T	C	19: 16,664,020 (GRCm39)		probably benign	Het
Vps26a	G	A	10: 62,294,857 (GRCm39)		probably benign	Het
Zfp638	T	A	6: 83,949,220 (GRCm39)		probably benign	Het

Other mutations in Ccdc92

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01737:Ccdc92	APN	5	124,912,920 (GRCm39)	missense	probably damaging	1.00
IGL03057:Ccdc92	APN	5	124,912,753 (GRCm39)	nonsense	probably null
IGL03185:Ccdc92	APN	5	124,913,014 (GRCm39)	missense	probably damaging	0.99
R1485:Ccdc92	UTSW	5	124,913,335 (GRCm39)	missense	probably benign
R1828:Ccdc92	UTSW	5	124,913,242 (GRCm39)	missense	probably benign	0.00
R4497:Ccdc92	UTSW	5	124,913,337 (GRCm39)	missense	probably benign	0.17
R5105:Ccdc92	UTSW	5	124,912,858 (GRCm39)	missense	probably damaging	1.00
R8014:Ccdc92	UTSW	5	124,913,090 (GRCm39)	missense	probably damaging	1.00
R8902:Ccdc92	UTSW	5	124,912,705 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTGCTCCAACTCACCTGACAGC -3'
(R):5'- CGTGTCTGATGCCCTTCACTTGTAG -3'

Sequencing Primer
(F):5'- CATGCTCAGTTTGTGGCTC -3'
(R):5'- TCACTTGTAGAGCTGGCAC -3'

Posted On

2013-10-16