Mutagenetix > Incidental Mutation

Incidental Mutation 'R4497:Ccdc92'

331020

Institutional Source

Beutler Lab

Gene Symbol

Ccdc92

Ensembl Gene

ENSMUSG00000037979

Gene Name

coiled-coil domain containing 92

Synonyms

D5Bwg0834e

MMRRC Submission

041750-MU

Accession Numbers

Essential gene?

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

Stock #

R4497 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

124911482-124939261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124913337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 64 (T64M)

Ref Sequence

ENSEMBL: ENSMUSP00000038075 (fasta)

Gene Model

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

AlphaFold

Q8VDN4

Predicted Effect

probably benign
Transcript: ENSMUST00000036206
AA Change: T64M

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000038075
Gene: ENSMUSG00000037979
AA Change: T64M

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: T64M

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000114983
Gene: ENSMUSG00000037979
AA Change: T64M

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	G	A	15: 81,779,486 (GRCm39)	A97T	probably damaging	Het
Adat1	T	C	8: 112,705,994 (GRCm39)	S371G	probably benign	Het
Aoc3	T	G	11: 101,222,871 (GRCm39)	I369R	possibly damaging	Het
Apobr	A	T	7: 126,186,694 (GRCm39)		probably null	Het
Arhgap12	A	T	18: 6,111,774 (GRCm39)	C69S	probably damaging	Het
Astn2	A	G	4: 66,037,300 (GRCm39)		probably benign	Het
Bcas1	T	C	2: 170,248,741 (GRCm39)	D60G	probably damaging	Het
Cacnb4	T	A	2: 52,367,783 (GRCm39)	D62V	probably damaging	Het
Cbx8	C	A	11: 118,931,618 (GRCm39)	R20L	probably damaging	Het
Cps1	G	T	1: 67,244,358 (GRCm39)	S1135I	probably null	Het
Eml2	G	A	7: 18,913,275 (GRCm39)	R91H	probably damaging	Het
Fbxl3	G	A	14: 103,320,313 (GRCm39)	P426L	probably damaging	Het
Fhod3	T	A	18: 25,243,296 (GRCm39)		probably null	Het
Gabrb2	T	C	11: 42,488,521 (GRCm39)	I329T	probably benign	Het
Gli3	T	A	13: 15,898,156 (GRCm39)	D745E	possibly damaging	Het
Itprid2	T	A	2: 79,488,164 (GRCm39)	V749E	probably damaging	Het
Lacc1	T	A	14: 77,271,470 (GRCm39)	N239I	probably damaging	Het
Lamb2	T	A	9: 108,363,997 (GRCm39)	C1008S	probably damaging	Het
Man2b1	G	A	8: 85,817,565 (GRCm39)	V349I	probably benign	Het
Mib1	A	G	18: 10,811,985 (GRCm39)	T961A	possibly damaging	Het
Mmp24	A	G	2: 155,655,908 (GRCm39)	I449V	possibly damaging	Het
Myo7b	A	G	18: 32,147,282 (GRCm39)	I87T	probably benign	Het
Or13c7b	A	G	4: 43,821,175 (GRCm39)	F62S	probably damaging	Het
Or5p72	T	A	7: 108,022,122 (GRCm39)	C115S	probably benign	Het
Pgr	A	G	9: 8,958,420 (GRCm39)	E809G	probably damaging	Het
Ppp1r3g	T	A	13: 36,153,603 (GRCm39)	V341E	probably benign	Het
Prkdc	T	A	16: 15,518,517 (GRCm39)	S1091T	probably benign	Het
Rab44	G	A	17: 29,358,871 (GRCm39)	R353K	probably benign	Het
Reck	G	A	4: 43,891,001 (GRCm39)	M46I	probably benign	Het
Rorb	G	T	19: 18,954,992 (GRCm39)	S208Y	possibly damaging	Het
Serinc2	G	T	4: 130,147,847 (GRCm39)	T410N	possibly damaging	Het
Slc23a2	G	A	2: 131,898,702 (GRCm39)	R612*	probably null	Het
Slx4	T	C	16: 3,812,773 (GRCm39)	E145G	probably damaging	Het
Spag16	A	G	1: 70,532,989 (GRCm39)	D556G	probably damaging	Het
Spopl	C	T	2: 23,407,957 (GRCm39)	V241M	probably damaging	Het
Tmf1	A	T	6: 97,149,293 (GRCm39)	F485I	probably benign	Het
Trmo	C	T	4: 46,382,140 (GRCm39)	V326M	probably damaging	Het
Tssk5	T	C	15: 76,256,411 (GRCm39)	D336G	probably damaging	Het
Ttyh2	A	T	11: 114,601,789 (GRCm39)	Q471L	possibly damaging	Het
Wdr33	A	C	18: 32,026,132 (GRCm39)	Q944H	unknown	Het
Wdr55	G	A	18: 36,893,448 (GRCm39)	V37M	possibly damaging	Het
Zbtb18	A	T	1: 177,274,687 (GRCm39)	S7C	probably damaging	Het
Zfhx4	G	A	3: 5,464,680 (GRCm39)	V1638M	possibly damaging	Het
Zfp81	A	T	17: 33,553,677 (GRCm39)	I379N	possibly damaging	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
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'- AGCATGCTCAGTTTGTGGC -3'
(R):5'- TTTACACAGTAAGCCAGGGAAC -3'

Sequencing Primer
(F):5'- AGTTTGTGGCTCTTCACCTTCAG -3'
(R):5'- TGGGAGGGGCCTCAGAGAC -3'

Posted On

2015-07-21