Mutagenetix > Incidental Mutation

Incidental Mutation 'R8030:Ccdc136'

617887

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 #

R8030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29396296-29426954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29417141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 654 (V654A)

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

probably benign
Transcript: ENSMUST00000096084
AA Change: V746A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: V746A

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: V746A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: V746A

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

probably benign
Transcript: ENSMUST00000154619
AA Change: V588A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: V588A

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: V654A

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: V654A

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: V654A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: V654A

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B09Rik	A	G	9: 14,672,970 (GRCm39)	S98P	probably benign	Het
Abca9	C	T	11: 110,011,534 (GRCm39)	V1170I	probably benign	Het
Acacb	A	G	5: 114,371,228 (GRCm39)	T1786A	probably damaging	Het
Acmsd	T	C	1: 127,676,898 (GRCm39)	I141T	possibly damaging	Het
Akr1c12	A	G	13: 4,322,244 (GRCm39)	V266A	possibly damaging	Het
Arhgef18	A	T	8: 3,489,600 (GRCm39)	I311F	probably damaging	Het
Armc2	T	A	10: 41,842,738 (GRCm39)	N355I	possibly damaging	Het
Armh1	T	A	4: 117,087,184 (GRCm39)	K160N	probably benign	Het
Asic1	A	T	15: 99,592,722 (GRCm39)	T236S	possibly damaging	Het
Avl9	T	A	6: 56,718,407 (GRCm39)	D424E	probably damaging	Het
Cbfa2t2	A	T	2: 154,357,816 (GRCm39)	Q197L	probably damaging	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cplane1	G	T	15: 8,259,787 (GRCm39)	G2383V	probably damaging	Het
Cracr2a	A	G	6: 127,588,386 (GRCm39)	K182E	probably damaging	Het
Dpys	T	C	15: 39,691,486 (GRCm39)	T279A	possibly damaging	Het
Dsc1	A	T	18: 20,222,628 (GRCm39)	S615T	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab14	A	G	4: 115,623,599 (GRCm39)	Q390R	probably benign	Het
Eif4ebp2	G	A	10: 61,270,825 (GRCm39)	A68V	probably damaging	Het
Fam81a	A	G	9: 70,010,191 (GRCm39)	S149P	probably benign	Het
Ffar4	A	G	19: 38,095,839 (GRCm39)	I193V	possibly damaging	Het
Flvcr2	T	A	12: 85,845,312 (GRCm39)	V377D	probably damaging	Het
Fscn1	C	T	5: 142,946,756 (GRCm39)	R185C	possibly damaging	Het
Gucy1b2	C	T	14: 62,630,319 (GRCm39)	S809N	probably benign	Het
H60b	T	A	10: 22,163,020 (GRCm39)	N198K	probably damaging	Het
Helz2	A	T	2: 180,879,689 (GRCm39)	F643Y	possibly damaging	Het
Kash5	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	7: 44,837,608 (GRCm39)		probably benign	Het
Kif28	A	G	1: 179,526,629 (GRCm39)	V846A	probably benign	Het
Kirrel1	C	A	3: 87,005,082 (GRCm39)	G89W	probably damaging	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Mb21d2	A	G	16: 28,646,555 (GRCm39)	F473S	probably damaging	Het
Mcrip2	G	A	17: 26,083,306 (GRCm39)	Q111*	probably null	Het
Msh5	A	G	17: 35,248,724 (GRCm39)	Y741H	possibly damaging	Het
Myo7b	A	G	18: 32,131,135 (GRCm39)	I544T	probably damaging	Het
Nav1	T	C	1: 135,464,977 (GRCm39)	E276G	probably damaging	Het
Nr2f1	T	C	13: 78,343,565 (GRCm39)	N233S	probably benign	Het
Nrip2	A	T	6: 128,383,484 (GRCm39)	D124V	possibly damaging	Het
Or5al1	C	T	2: 85,990,586 (GRCm39)	V43I	probably benign	Het
Or8k16	T	A	2: 85,520,063 (GRCm39)	C97S	probably damaging	Het
Panx2	G	T	15: 88,952,282 (GRCm39)	A250S	probably damaging	Het
Pdc	T	C	1: 150,208,964 (GRCm39)	L149P	probably damaging	Het
Pex5l	T	A	3: 33,008,568 (GRCm39)	I445F	possibly damaging	Het
Pigc	T	C	1: 161,798,116 (GRCm39)	F33L	probably damaging	Het
Pkp2	A	T	16: 16,064,774 (GRCm39)	M433L	probably benign	Het
Rbfox2	A	G	15: 76,969,776 (GRCm39)		probably null	Het
Rd3l	A	G	12: 111,946,584 (GRCm39)	L64P	possibly damaging	Het
Rnf220	A	G	4: 117,135,025 (GRCm39)	Y409H	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Sel1l2	T	C	2: 140,082,938 (GRCm39)	T567A	probably damaging	Het
Slc22a8	T	C	19: 8,587,371 (GRCm39)	I477T	probably damaging	Het
Sltm	C	T	9: 70,493,261 (GRCm39)	R753*	probably null	Het
Specc1l	T	A	10: 75,084,389 (GRCm39)	M687K	probably damaging	Het
Spock3	T	G	8: 63,805,232 (GRCm39)	C338G	probably damaging	Het
Ssh2	C	A	11: 77,345,332 (GRCm39)	Q1106K	probably benign	Het
Sycp2l	A	G	13: 41,326,146 (GRCm39)	M251V	not run	Het
Tdrd5	C	A	1: 156,098,165 (GRCm39)	E711*	probably null	Het
Thop1	T	C	10: 80,911,450 (GRCm39)	M112T	possibly damaging	Het
Tln1	C	T	4: 43,535,737 (GRCm39)		probably null	Het
Ttc28	A	C	5: 111,433,922 (GRCm39)	I2319L	possibly damaging	Het
Ttll11	A	G	2: 35,792,685 (GRCm39)	I386T	probably damaging	Het
Txndc8	T	C	4: 57,984,178 (GRCm39)	E151G	probably damaging	Het
Ubr1	T	C	2: 120,764,855 (GRCm39)	E533G	probably damaging	Het
Zscan4f	A	G	7: 11,135,290 (GRCm39)	H232R	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
PIT4515001:Ccdc136	UTSW	6	29,417,225 (GRCm39)	missense	probably benign	0.42
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
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'- GCAAAGGCCTTGTGAAACAG -3'
(R):5'- CTCTCGTAACTCCTGTGGAAG -3'

Sequencing Primer
(F):5'- GTGCTCTTCTCTCAGGTAAGCAC -3'
(R):5'- AACTCCTGTGGAAGTTCTCAG -3'

Posted On

2020-01-23