Mutagenetix > Incidental Mutation

Incidental Mutation 'R5105:Ccdc92'

401984

Institutional Source

Beutler Lab

Gene Symbol

Ccdc92

Ensembl Gene

ENSMUSG00000037979

Gene Name

coiled-coil domain containing 92

Synonyms

D5Bwg0834e

MMRRC Submission

042693-MU

Accession Numbers

Essential gene?

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

Stock #

R5105 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124911482-124939261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124912858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 224 (P224S)

Ref Sequence

ENSEMBL: ENSMUSP00000038075 (fasta)

Gene Model

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

AlphaFold

Q8VDN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000036206
AA Change: P224S

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

SMART Domains

Protein: ENSMUSP00000038075
Gene: ENSMUSG00000037979
AA Change: P224S

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

SMART Domains

Protein: ENSMUSP00000114983
Gene: ENSMUSG00000037979

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

0.1831

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btbd8	T	G	5: 107,658,337 (GRCm39)	S1124A	possibly damaging	Het
Camsap1	A	G	2: 25,830,941 (GRCm39)	S445P	probably damaging	Het
Cep135	T	C	5: 76,741,939 (GRCm39)	V125A	probably benign	Het
Cep192	T	A	18: 67,999,612 (GRCm39)	C2159S	probably benign	Het
Col1a1	G	T	11: 94,833,211 (GRCm39)	R404L	unknown	Het
Col6a3	A	T	1: 90,725,862 (GRCm39)	M1382K	possibly damaging	Het
Cyp4a12b	T	C	4: 115,290,958 (GRCm39)	S329P	probably damaging	Het
Dclk1	T	G	3: 55,163,360 (GRCm39)	S151A	probably benign	Het
Ddhd1	A	T	14: 45,894,864 (GRCm39)	V202E	probably benign	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,888,546 (GRCm39)	E3050G	probably benign	Het
Dync1h1	T	A	12: 110,584,366 (GRCm39)	F590I	probably damaging	Het
Eif4b	T	C	15: 101,992,631 (GRCm39)	Y63H	probably benign	Het
Fscb	T	C	12: 64,520,110 (GRCm39)	E452G	possibly damaging	Het
Gpx3	A	T	11: 54,797,980 (GRCm39)	T39S	possibly damaging	Het
Grin2b	T	A	6: 135,709,439 (GRCm39)	Y1369F	probably benign	Het
Kank4	A	T	4: 98,667,396 (GRCm39)	N350K	probably benign	Het
Kdm5d	A	G	Y: 941,752 (GRCm39)	K1318E	probably benign	Het
Large1	A	T	8: 73,578,872 (GRCm39)	Y444*	probably null	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Lrrc47	A	G	4: 154,096,673 (GRCm39)	Q156R	probably damaging	Het
Lrriq4	T	C	3: 30,704,632 (GRCm39)	L220P	probably damaging	Het
Matn2	A	G	15: 34,355,814 (GRCm39)	D273G	possibly damaging	Het
Myo18b	T	A	5: 112,988,644 (GRCm39)	I981F	probably damaging	Het
Or1q1	G	A	2: 36,887,469 (GRCm39)		probably null	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or5aq1	A	G	2: 86,966,554 (GRCm39)	I37T	probably benign	Het
Or6b13	A	G	7: 139,782,462 (GRCm39)	Y74H	probably damaging	Het
Or8d6	T	C	9: 39,853,694 (GRCm39)	V46A	probably benign	Het
Pkdrej	T	C	15: 85,700,585 (GRCm39)	T1784A	probably damaging	Het
Ppp3cb	A	G	14: 20,559,490 (GRCm39)	V422A	possibly damaging	Het
Rlf	G	A	4: 121,007,564 (GRCm39)	T472I	probably damaging	Het
Scaf11	T	C	15: 96,318,313 (GRCm39)	E417G	probably damaging	Het
Shisa2	A	T	14: 59,867,263 (GRCm39)	T172S	possibly damaging	Het
Siglec1	T	A	2: 130,922,320 (GRCm39)	Q585L	possibly damaging	Het
Sorcs1	A	T	19: 50,213,579 (GRCm39)	M716K	possibly damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Stxbp5l	C	A	16: 36,962,734 (GRCm39)	V774F	probably benign	Het
Tcaf3	A	G	6: 42,568,259 (GRCm39)	F699S	probably damaging	Het
Tmem87b	T	C	2: 128,673,509 (GRCm39)	V251A	probably damaging	Het
Trpc6	T	A	9: 8,649,471 (GRCm39)	N560K	probably benign	Het
Trpv4	T	A	5: 114,764,981 (GRCm39)	I678F	probably damaging	Het
Ttc3	A	T	16: 94,267,793 (GRCm39)	H1935L	possibly damaging	Het
Vmn2r59	T	A	7: 41,696,529 (GRCm39)	Y71F	probably benign	Het
Wdfy3	A	G	5: 102,003,415 (GRCm39)	I2900T	probably damaging	Het
Zfp184	A	G	13: 22,143,799 (GRCm39)	T502A	possibly damaging	Het
Zmym6	A	G	4: 127,017,551 (GRCm39)	I1019V	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
R0801:Ccdc92	UTSW	5	124,913,335 (GRCm39)	missense	probably benign
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
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'- TTGCATTCACCTGGTCCACG -3'
(R):5'- TTGCTGAGCTCAAGTGGCAC -3'

Sequencing Primer
(F):5'- ATCTCTCCCTCAGGCTGGG -3'
(R):5'- TCAAGTGGCACCTCGGATG -3'

Posted On

2016-07-22