Mutagenetix > Incidental Mutation

Incidental Mutation 'R9255:Ccdc136'

701796

Institutional Source

Beutler Lab

Gene Symbol

Ccdc136

Ensembl Gene

ENSMUSG00000029769

Gene Name

coiled-coil domain containing 136

Synonyms

4921511K06Rik

MMRRC Submission

068961-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9255 (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 A at 29409237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 183 (H183Q)

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: H275Q

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

SMART Domains

Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: H275Q

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: H275Q

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

SMART Domains

Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: H275Q

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
AA Change: H275Q

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

SMART Domains

Protein: ENSMUSP00000145331
Gene: ENSMUSG00000029769
AA Change: H275Q

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: H117Q

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

SMART Domains

Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: H117Q

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: H183Q

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

SMART Domains

Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: H183Q

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: H183Q

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

SMART Domains

Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: H183Q

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,626,795 (GRCm39)	Y549C	probably damaging	Het
Abca13	A	C	11: 9,278,213 (GRCm39)	N3131T	probably damaging	Het
Acap3	T	C	4: 155,990,145 (GRCm39)	V775A	probably benign	Het
Actn3	T	A	19: 4,921,820 (GRCm39)	I149F	probably damaging	Het
Adcy2	A	T	13: 69,036,199 (GRCm39)	M154K	possibly damaging	Het
Agbl1	A	T	7: 76,416,150 (GRCm39)	M976L	unknown	Het
Agbl3	T	A	6: 34,789,840 (GRCm39)	M531K	probably damaging	Het
Armc8	A	C	9: 99,379,441 (GRCm39)	M495R	possibly damaging	Het
Astn2	T	A	4: 65,563,085 (GRCm39)	K899*	probably null	Het
Atp10b	T	A	11: 43,107,148 (GRCm39)	H727Q	probably damaging	Het
Bach1	A	G	16: 87,519,401 (GRCm39)	I564V	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Celf3	T	C	3: 94,392,594 (GRCm39)	F98L	probably benign	Het
Chrd	G	A	16: 20,558,801 (GRCm39)	C845Y	probably damaging	Het
Clec1a	T	G	6: 129,409,208 (GRCm39)	K139N	probably benign	Het
Cntln	T	G	4: 85,019,103 (GRCm39)	N130K	possibly damaging	Het
Cog1	A	T	11: 113,547,019 (GRCm39)	T538S	probably benign	Het
Cog8	A	G	8: 107,779,383 (GRCm39)	I298T	probably damaging	Het
Dio1	A	T	4: 107,164,102 (GRCm39)	W72R	probably damaging	Het
Elapor1	T	C	3: 108,376,864 (GRCm39)	R453G	probably damaging	Het
Exph5	T	A	9: 53,284,609 (GRCm39)	N563K	possibly damaging	Het
Foxn1	C	A	11: 78,252,399 (GRCm39)	E330*	probably null	Het
Fzd7	G	T	1: 59,522,495 (GRCm39)	R126L	possibly damaging	Het
Gmnn	A	G	13: 24,937,351 (GRCm39)	Y147H	probably benign	Het
Gpa33	A	G	1: 165,980,186 (GRCm39)	N83S	probably benign	Het
Hdac4	A	G	1: 91,889,173 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,261,972 (GRCm39)	D2691G	probably benign	Het
Ifi203	A	T	1: 173,756,787 (GRCm39)	I332N	unknown	Het
Inpp1	A	G	1: 52,829,306 (GRCm39)	S238P	probably benign	Het
Jmy	A	G	13: 93,589,894 (GRCm39)		probably null	Het
Kcnab3	C	T	11: 69,222,337 (GRCm39)	Q327*	probably null	Het
Kctd1	A	G	18: 15,194,853 (GRCm39)	V590A	probably benign	Het
Lrrc8e	A	T	8: 4,284,504 (GRCm39)	H243L	probably damaging	Het
Lsr	A	G	7: 30,657,670 (GRCm39)	L498S	probably benign	Het
Mapkbp1	A	G	2: 119,843,556 (GRCm39)	D268G	probably damaging	Het
Mfn1	T	C	3: 32,598,287 (GRCm39)	V203A	possibly damaging	Het
Micu1	T	A	10: 59,604,051 (GRCm39)	I212N	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Or11i1	A	G	3: 106,729,737 (GRCm39)	I46T	probably benign	Het
Or12j4	T	C	7: 140,046,423 (GRCm39)	F103S	probably damaging	Het
Or8g30	T	C	9: 39,230,487 (GRCm39)	Y141C	probably benign	Het
Pabpc6	T	C	17: 9,886,769 (GRCm39)	E594G	probably damaging	Het
Pald1	A	T	10: 61,176,989 (GRCm39)		probably null	Het
Pdpk1	A	G	17: 24,325,938 (GRCm39)	I113T	possibly damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pi4kb	T	C	3: 94,906,219 (GRCm39)	S589P	probably damaging	Het
Pik3ca	G	A	3: 32,496,981 (GRCm39)		probably null	Het
Plekhg4	A	T	8: 106,103,271 (GRCm39)	M315L	probably benign	Het
Proz	G	A	8: 13,123,472 (GRCm39)	V248M	possibly damaging	Het
Prss1	T	C	6: 41,438,183 (GRCm39)	Y37H	probably damaging	Het
R3hdml	T	A	2: 163,337,612 (GRCm39)	W89R	probably damaging	Het
Ranbp3l	A	G	15: 9,057,293 (GRCm39)	T319A	probably benign	Het
Scn4a	C	T	11: 106,215,054 (GRCm39)	A1246T	probably damaging	Het
Sdr42e1	T	A	8: 118,389,999 (GRCm39)	Y214F	probably benign	Het
Slc10a2	C	T	8: 5,148,565 (GRCm39)	V127I	probably benign	Het
Slc16a1	T	A	3: 104,560,148 (GRCm39)	M151K	possibly damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Ssbp2	T	A	13: 91,818,525 (GRCm39)	M171K	possibly damaging	Het
Styk1	A	G	6: 131,286,946 (GRCm39)	V183A	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tspan18	T	G	2: 93,040,200 (GRCm39)	D185A	probably benign	Het
Tti2	T	A	8: 31,645,570 (GRCm39)	F320Y	probably damaging	Het
Ttn	T	C	2: 76,608,621 (GRCm39)	I17798M	probably damaging	Het
Ube2j1	C	A	4: 33,036,759 (GRCm39)	H28N	probably benign	Het
Vmn1r195	A	C	13: 22,463,342 (GRCm39)	I271L	possibly damaging	Het
Vmn2r81	A	C	10: 79,103,166 (GRCm39)	T120P	possibly damaging	Het
Vmn2r-ps158	A	T	7: 42,673,965 (GRCm39)	Y348F	possibly damaging	Het
Wtip	A	G	7: 33,824,908 (GRCm39)		probably null	Het
Zc3h12d	C	T	10: 7,729,022 (GRCm39)	H129Y	probably damaging	Het
Zfp600	T	G	4: 146,131,673 (GRCm39)	S114A	possibly damaging	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
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
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'- GCAAGATGATATTTCAATTGGGGC -3'
(R):5'- AGACATGACTGCTTTCCAGG -3'

Sequencing Primer
(F):5'- ATTGGGGCTTCATGGATGAATATAC -3'
(R):5'- TGACTGCTTTCCAGGAACAG -3'

Posted On

2022-03-25