Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4515001:Ccdc136'

556308

Institutional Source

Beutler Lab

Gene Symbol

Ccdc136

Ensembl Gene

ENSMUSG00000029769

Gene Name

coiled-coil domain containing 136

Synonyms

4921511K06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4515001 (G1)

Quality Score

146.008

Status

Not validated

Chromosome

Chromosomal Location

29396296-29426954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29417225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 682 (V682E)

Ref Sequence

ENSEMBL: ENSMUSP00000137673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096084] [ENSMUST00000115275] [ENSMUST00000145310] [ENSMUST00000154619] [ENSMUST00000180829] [ENSMUST00000181464] [ENSMUST00000202726]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096084
AA Change: V774E

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: V774E

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	65	83	N/A	INTRINSIC
low complexity region	85	92	N/A	INTRINSIC
coiled coil region	99	310	N/A	INTRINSIC
coiled coil region	343	408	N/A	INTRINSIC
internal_repeat_2	416	435	7.26e-6	PROSPERO
low complexity region	439	453	N/A	INTRINSIC
coiled coil region	463	489	N/A	INTRINSIC
coiled coil region	526	611	N/A	INTRINSIC
low complexity region	645	658	N/A	INTRINSIC
coiled coil region	730	779	N/A	INTRINSIC
internal_repeat_1	791	810	8.87e-9	PROSPERO
internal_repeat_1	819	838	8.87e-9	PROSPERO
low complexity region	847	868	N/A	INTRINSIC
internal_repeat_2	902	921	7.26e-6	PROSPERO
low complexity region	994	1011	N/A	INTRINSIC
low complexity region	1023	1041	N/A	INTRINSIC
coiled coil region	1066	1104	N/A	INTRINSIC
low complexity region	1108	1142	N/A	INTRINSIC
transmembrane domain	1154	1176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115275
AA Change: V774E

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: V774E

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	65	83	N/A	INTRINSIC
low complexity region	85	92	N/A	INTRINSIC
coiled coil region	99	310	N/A	INTRINSIC
coiled coil region	343	408	N/A	INTRINSIC
internal_repeat_2	416	435	1.72e-5	PROSPERO
low complexity region	439	453	N/A	INTRINSIC
coiled coil region	463	489	N/A	INTRINSIC
coiled coil region	526	611	N/A	INTRINSIC
low complexity region	645	658	N/A	INTRINSIC
coiled coil region	730	779	N/A	INTRINSIC
internal_repeat_1	791	810	2.93e-8	PROSPERO
internal_repeat_1	819	838	2.93e-8	PROSPERO
low complexity region	847	868	N/A	INTRINSIC
internal_repeat_2	902	921	1.72e-5	PROSPERO
transmembrane domain	967	989	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145310

SMART Domains

Protein: ENSMUSP00000145331
Gene: ENSMUSG00000029769

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	65	83	N/A	INTRINSIC
low complexity region	85	92	N/A	INTRINSIC
coiled coil region	99	310	N/A	INTRINSIC
coiled coil region	343	408	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154619
AA Change: V616E

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: V616E

Domain	Start	End	E-Value	Type
coiled coil region	1	152	N/A	INTRINSIC
coiled coil region	185	250	N/A	INTRINSIC
internal_repeat_2	258	277	4.68e-6	PROSPERO
low complexity region	281	295	N/A	INTRINSIC
coiled coil region	305	331	N/A	INTRINSIC
coiled coil region	368	453	N/A	INTRINSIC
low complexity region	487	500	N/A	INTRINSIC
coiled coil region	572	621	N/A	INTRINSIC
internal_repeat_1	633	652	5.47e-9	PROSPERO
internal_repeat_1	661	680	5.47e-9	PROSPERO
low complexity region	689	710	N/A	INTRINSIC
internal_repeat_2	744	763	4.68e-6	PROSPERO
low complexity region	836	853	N/A	INTRINSIC
low complexity region	865	883	N/A	INTRINSIC
coiled coil region	908	946	N/A	INTRINSIC
low complexity region	950	984	N/A	INTRINSIC
transmembrane domain	996	1018	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180829
AA Change: V682E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: V682E

Domain	Start	End	E-Value	Type
coiled coil region	7	218	N/A	INTRINSIC
coiled coil region	251	316	N/A	INTRINSIC
internal_repeat_2	324	343	1.21e-5	PROSPERO
low complexity region	347	361	N/A	INTRINSIC
coiled coil region	371	397	N/A	INTRINSIC
coiled coil region	434	519	N/A	INTRINSIC
low complexity region	553	566	N/A	INTRINSIC
coiled coil region	638	687	N/A	INTRINSIC
internal_repeat_1	699	718	1.98e-8	PROSPERO
internal_repeat_1	727	746	1.98e-8	PROSPERO
low complexity region	755	776	N/A	INTRINSIC
internal_repeat_2	810	829	1.21e-5	PROSPERO
transmembrane domain	875	897	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181464
AA Change: V682E

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: V682E

Domain	Start	End	E-Value	Type
coiled coil region	7	218	N/A	INTRINSIC
coiled coil region	251	316	N/A	INTRINSIC
internal_repeat_2	324	343	7.68e-6	PROSPERO
low complexity region	347	361	N/A	INTRINSIC
coiled coil region	371	397	N/A	INTRINSIC
coiled coil region	434	519	N/A	INTRINSIC
low complexity region	553	566	N/A	INTRINSIC
coiled coil region	638	687	N/A	INTRINSIC
internal_repeat_1	699	718	1.04e-8	PROSPERO
internal_repeat_1	727	746	1.04e-8	PROSPERO
low complexity region	755	776	N/A	INTRINSIC
internal_repeat_2	810	829	7.68e-6	PROSPERO
low complexity region	902	919	N/A	INTRINSIC
low complexity region	931	949	N/A	INTRINSIC
transmembrane domain	969	991	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202726

SMART Domains

Protein: ENSMUSP00000144577
Gene: ENSMUSG00000029769

Domain	Start	End	E-Value	Type
coiled coil region	25	90	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 86.0%
20x: 75.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,068 (GRCm39)	R966*	probably null	Het
Adam32	A	T	8: 25,404,342 (GRCm39)	I221K	possibly damaging	Het
Adcy6	T	C	15: 98,493,027 (GRCm39)	T880A	probably benign	Het
Agpat5	T	A	8: 18,896,657 (GRCm39)	Y28N	probably damaging	Het
Atg2a	A	G	19: 6,303,615 (GRCm39)	I1125V	probably damaging	Het
B4galt6	A	G	18: 20,821,524 (GRCm39)	Y335H	probably benign	Het
Bend3	A	T	10: 43,386,630 (GRCm39)	E341V	probably damaging	Het
Bltp1	T	A	3: 37,028,385 (GRCm39)	Y2351N	probably damaging	Het
Ccdc142	T	C	6: 83,080,238 (GRCm39)	C394R	probably benign	Het
Cfap58	A	G	19: 48,023,122 (GRCm39)	N845D	probably benign	Het
Col4a3	G	A	1: 82,660,024 (GRCm39)	G890R	unknown	Het
Cyp1a2	C	A	9: 57,589,242 (GRCm39)	V191L	probably benign	Het
Cyp51	A	T	5: 4,149,122 (GRCm39)		probably null	Het
Diras2	T	C	13: 52,661,783 (GRCm39)	S175G	possibly damaging	Het
Dnah6	A	G	6: 73,091,565 (GRCm39)	F2242S	probably damaging	Het
Erg	T	A	16: 95,210,619 (GRCm39)	N78Y	probably benign	Het
Fdft1	T	A	14: 63,402,032 (GRCm39)	Q49L	probably benign	Het
Frem1	G	T	4: 82,818,663 (GRCm39)	H2183Q	probably damaging	Het
Fut2	G	A	7: 45,299,890 (GRCm39)	T294I	probably damaging	Het
Gabrb1	A	C	5: 71,858,160 (GRCm39)	D62A	probably damaging	Het
Gbe1	T	A	16: 70,238,004 (GRCm39)	Y263*	probably null	Het
Gimap6	T	C	6: 48,679,502 (GRCm39)	D178G	probably benign	Het
Gss	T	A	2: 155,420,261 (GRCm39)	T147S	probably damaging	Het
Hlcs	A	T	16: 94,068,275 (GRCm39)	V315E	probably benign	Het
Hoxa3	C	T	6: 52,147,164 (GRCm39)	G363E	unknown	Het
Ift140	A	G	17: 25,305,834 (GRCm39)	N807S	probably damaging	Het
Iglc1	T	G	16: 18,880,701 (GRCm39)	D40A		Het
Itga10	T	A	3: 96,569,948 (GRCm39)	I1120N	probably damaging	Het
Jak3	T	C	8: 72,132,286 (GRCm39)	V217A	probably benign	Het
Kank2	T	G	9: 21,706,179 (GRCm39)	I280L	probably benign	Het
Kcnk1	G	T	8: 126,752,081 (GRCm39)	G229V	probably damaging	Het
Kpna7	T	C	5: 144,941,862 (GRCm39)	T143A	probably benign	Het
Letmd1	C	T	15: 100,374,683 (GRCm39)	R310C	probably damaging	Het
Mga	G	A	2: 119,746,985 (GRCm39)	V379I	probably damaging	Het
Mto1	T	A	9: 78,364,699 (GRCm39)	Y313N	probably damaging	Het
Muc5ac	G	A	7: 141,361,153 (GRCm39)	C1488Y	probably damaging	Het
Nde1	T	A	16: 13,988,357 (GRCm39)		probably null	Het
Nfatc3	T	C	8: 106,805,835 (GRCm39)	S235P	possibly damaging	Het
Nup88	T	C	11: 70,835,547 (GRCm39)	D602G	probably benign	Het
Or11g25	T	A	14: 50,723,536 (GRCm39)	M207K	probably benign	Het
Or2h1b	A	C	17: 37,462,270 (GRCm39)	S198A	probably benign	Het
Pcnx1	G	A	12: 82,038,561 (GRCm39)	C1309Y		Het
Phldb1	A	G	9: 44,627,257 (GRCm39)	I396T	probably benign	Het
Pramel38	T	C	5: 94,368,831 (GRCm39)	M442T	probably benign	Het
Pramel41	A	C	5: 94,594,694 (GRCm39)	K185Q	probably benign	Het
Prss53	G	A	7: 127,487,963 (GRCm39)	T173I	probably benign	Het
Ptpn11	C	A	5: 121,302,617 (GRCm39)	D156Y	probably damaging	Het
Rfx8	A	G	1: 39,729,265 (GRCm39)	Y167H	probably benign	Het
Rpsa	T	A	9: 119,960,214 (GRCm39)	I259N	probably benign	Het
Rrm2b	G	T	15: 37,947,048 (GRCm39)	D84E	probably benign	Het
Scgb2b19	A	T	7: 32,979,036 (GRCm39)		probably null	Het
Sik3	T	C	9: 46,120,029 (GRCm39)	L706P	probably damaging	Het
Slc4a4	A	T	5: 89,281,112 (GRCm39)	E426D	probably damaging	Het
Slc8a2	C	A	7: 15,874,504 (GRCm39)	L251I	possibly damaging	Het
Taf6	T	C	5: 138,180,504 (GRCm39)	K287E	probably benign	Het
Tiam1	G	A	16: 89,657,130 (GRCm39)	T702I	probably damaging	Het
Tle1	A	T	4: 72,117,556 (GRCm39)	F35I	possibly damaging	Het
Tle2	A	G	10: 81,422,964 (GRCm39)	Q454R	possibly damaging	Het
Tsc2	T	C	17: 24,840,121 (GRCm39)	N425S	probably benign	Het
Utp3	A	G	5: 88,702,564 (GRCm39)	D31G	probably benign	Het
Vmn1r173	A	T	7: 23,401,911 (GRCm39)	R49*	probably null	Het
Ybx2	T	A	11: 69,831,224 (GRCm39)	V273E	probably benign	Het
Zbtb22	G	A	17: 34,137,672 (GRCm39)	A606T	probably benign	Het
Zcchc8	A	T	5: 123,838,995 (GRCm39)	D514E	probably benign	Het
Zfy2	T	A	Y: 2,117,096 (GRCm39)	I244F	probably benign	Het
Zglp1	T	C	9: 20,977,485 (GRCm39)	N110S	probably benign	Het

Other mutations in Ccdc136

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Ccdc136	APN	6	29,420,257 (GRCm39)	missense	probably damaging	0.96
IGL01325:Ccdc136	APN	6	29,412,949 (GRCm39)	missense	probably benign	0.00
IGL01608:Ccdc136	APN	6	29,406,113 (GRCm39)	missense	possibly damaging	0.90
IGL02305:Ccdc136	APN	6	29,406,173 (GRCm39)	missense	probably damaging	1.00
IGL03354:Ccdc136	APN	6	29,419,102 (GRCm39)	missense	probably damaging	1.00
dimensionless	UTSW	6	29,412,449 (GRCm39)	missense	probably benign	0.03
punctate	UTSW	6	29,410,204 (GRCm39)	missense	probably damaging	0.99
R0436:Ccdc136	UTSW	6	29,414,933 (GRCm39)	missense	probably damaging	1.00
R0709:Ccdc136	UTSW	6	29,414,969 (GRCm39)	missense	possibly damaging	0.64
R1451:Ccdc136	UTSW	6	29,419,376 (GRCm39)	missense	probably benign	0.09
R1593:Ccdc136	UTSW	6	29,415,583 (GRCm39)	missense	probably damaging	1.00
R1966:Ccdc136	UTSW	6	29,418,091 (GRCm39)	missense	probably damaging	1.00
R2113:Ccdc136	UTSW	6	29,413,031 (GRCm39)	missense	possibly damaging	0.51
R3845:Ccdc136	UTSW	6	29,417,176 (GRCm39)	missense	probably benign	0.20
R4668:Ccdc136	UTSW	6	29,411,280 (GRCm39)	missense	probably damaging	0.99
R5037:Ccdc136	UTSW	6	29,417,122 (GRCm39)	missense	probably damaging	1.00
R5085:Ccdc136	UTSW	6	29,419,313 (GRCm39)	missense	probably damaging	1.00
R5314:Ccdc136	UTSW	6	29,417,497 (GRCm39)	missense	probably benign	0.07
R5340:Ccdc136	UTSW	6	29,411,859 (GRCm39)	missense	possibly damaging	0.84
R5702:Ccdc136	UTSW	6	29,412,981 (GRCm39)	missense	probably damaging	0.99
R6108:Ccdc136	UTSW	6	29,412,449 (GRCm39)	missense	probably benign	0.03
R6313:Ccdc136	UTSW	6	29,410,204 (GRCm39)	missense	probably damaging	0.99
R6640:Ccdc136	UTSW	6	29,412,959 (GRCm39)	missense	possibly damaging	0.95
R6765:Ccdc136	UTSW	6	29,405,940 (GRCm39)	missense	probably benign
R7910:Ccdc136	UTSW	6	29,420,033 (GRCm39)	missense	probably benign	0.08
R7914:Ccdc136	UTSW	6	29,419,306 (GRCm39)	missense	probably damaging	1.00
R8030:Ccdc136	UTSW	6	29,417,141 (GRCm39)	missense	probably benign	0.07
R8414:Ccdc136	UTSW	6	29,412,929 (GRCm39)	missense	probably damaging	1.00
R8925:Ccdc136	UTSW	6	29,406,109 (GRCm39)	missense	probably damaging	0.98
R8927:Ccdc136	UTSW	6	29,406,109 (GRCm39)	missense	probably damaging	0.98
R9147:Ccdc136	UTSW	6	29,418,070 (GRCm39)	missense	probably damaging	1.00
R9148:Ccdc136	UTSW	6	29,418,070 (GRCm39)	missense	probably damaging	1.00
R9255:Ccdc136	UTSW	6	29,409,237 (GRCm39)	missense	probably benign
R9279:Ccdc136	UTSW	6	29,421,982 (GRCm39)	intron	probably benign
R9364:Ccdc136	UTSW	6	29,405,960 (GRCm39)	missense	probably damaging	1.00
R9623:Ccdc136	UTSW	6	29,405,939 (GRCm39)	missense	probably benign	0.00
R9712:Ccdc136	UTSW	6	29,417,441 (GRCm39)	missense	probably benign
R9799:Ccdc136	UTSW	6	29,417,505 (GRCm39)	missense	probably damaging	1.00
X0025:Ccdc136	UTSW	6	29,409,242 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GTAATGGTGATGTCTCCTGCCC -3'
(R):5'- CTTCTCAAAGGCCTCGTTGG -3'

Sequencing Primer
(F):5'- GATGTCTCCTGCCCCCTGC -3'
(R):5'- CTACTGTCATAGCTCTTGAGGAAG -3'

Posted On

2019-06-07