Mutagenetix > Incidental Mutation

Incidental Mutation 'R9501:Ccdc36'

717571

Institutional Source

Beutler Lab

Gene Symbol

Ccdc36

Ensembl Gene

ENSMUSG00000047220

Gene Name

coiled-coil domain containing 36

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9501 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108403611-108428484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108405301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 396 (V396E)

Ref Sequence

ENSEMBL: ENSMUSP00000075898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076592] [ENSMUST00000192995]

AlphaFold

Q6PDM4

Predicted Effect

probably benign
Transcript: ENSMUST00000076592
AA Change: V396E

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: V396E

Domain	Start	End	E-Value	Type
Pfam:DUF4700	19	572	4.7e-274	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192995

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,396,103	V439D	probably damaging	Het
Abcf3	T	C	16: 20,560,375	S664P	probably damaging	Het
Anp32a	A	G	9: 62,374,737	S202G	unknown	Het
Aste1	G	A	9: 105,396,681	C40Y	probably benign	Het
AU040320	A	G	4: 126,841,239	K782R	probably benign	Het
Bach1	A	G	16: 87,719,111	Q180R	probably benign	Het
Ccdc149	A	G	5: 52,385,135	S372P	probably benign	Het
Chd2	T	C	7: 73,441,733	S1587G	possibly damaging	Het
Chd2	A	T	7: 73,480,546	I787N	probably damaging	Het
Chd8	T	A	14: 52,214,588	I1317L	probably benign	Het
Clca2	C	A	3: 145,071,561	E850*	probably null	Het
Clpb	G	A	7: 101,778,573	G375D	probably damaging	Het
Cobl	T	A	11: 12,378,235	I124F	possibly damaging	Het
Cope	A	G	8: 70,312,713	N271S	probably benign	Het
Cyp11b2	T	C	15: 74,851,112	D479G	probably damaging	Het
Dennd3	T	A	15: 73,547,192	C611S	probably benign	Het
Drosha	G	T	15: 12,928,906	V1299L	probably damaging	Het
Dst	A	G	1: 34,188,768	Y1814C	probably damaging	Het
Fbn2	A	G	18: 58,076,058	C1082R	probably damaging	Het
Fbxw22	A	T	9: 109,378,852	N450K	probably benign	Het
Hmcn1	T	A	1: 150,595,239	I4925F	possibly damaging	Het
Kin	G	T	2: 10,080,667	A13S	probably benign	Het
Lrp1b	G	A	2: 41,282,235	R1581C		Het
Myl2	T	C	5: 122,103,858	I66T	probably benign	Het
Npy5r	A	G	8: 66,681,485	C219R	probably damaging	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Oosp1	A	T	19: 11,687,393	Y100N	probably damaging	Het
Pdk4	A	G	6: 5,491,084	L227P	probably damaging	Het
Perm1	A	T	4: 156,217,720	E240D	probably benign	Het
Pi4ka	A	G	16: 17,386,292	L46P		Het
Pik3ca	A	G	3: 32,449,913	Y584C	probably damaging	Het
Prnp	T	C	2: 131,937,117	S230P	probably benign	Het
Rftn2	A	G	1: 55,202,196	F315S	possibly damaging	Het
Rp1l1	A	G	14: 64,028,590	R542G	probably benign	Het
Scn7a	T	C	2: 66,752,235	N106S	probably benign	Het
Sec24a	A	T	11: 51,712,295	N775K	probably damaging	Het
Slc13a2	G	A	11: 78,400,807	T340M	probably damaging	Het
Slc5a3	A	G	16: 92,078,369	Y438C	probably damaging	Het
Smarca2	A	G	19: 26,640,577	Q336R	probably benign	Het
Snx7	A	G	3: 117,838,962	V160A	possibly damaging	Het
Stim1	A	T	7: 102,411,299	D183V	possibly damaging	Het
Strn3	A	T	12: 51,650,173	D258E	probably damaging	Het
Stxbp1	G	A	2: 32,802,813	A397V	probably benign	Het
Tacr3	A	G	3: 134,829,331	H20R	probably benign	Het
Tg	T	A	15: 66,847,074	D2626E	possibly damaging	Het
Tmem131	A	G	1: 36,819,184	M694T	possibly damaging	Het
Tpp1	G	A	7: 105,749,257	A284V	probably benign	Het
Trank1	A	T	9: 111,347,875	T327S	probably benign	Het
Trim14	A	G	4: 46,510,404	W274R	unknown	Het
Tshz2	A	T	2: 169,883,839	E118D	probably benign	Het
Tshz3	A	G	7: 36,771,555	T990A	probably damaging	Het
Usp40	T	C	1: 87,997,835	D224G	probably benign	Het
Vmn2r-ps130	A	G	17: 23,063,676	Q110R	probably benign	Het
Zscan2	A	G	7: 80,876,142	K537R	probably damaging	Het

Other mutations in Ccdc36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01956:Ccdc36	APN	9	108417319	splice site	probably benign
IGL02138:Ccdc36	APN	9	108406621	missense	probably benign	0.00
IGL02305:Ccdc36	APN	9	108405832	missense	possibly damaging	0.82
IGL02456:Ccdc36	APN	9	108406621	missense	probably benign	0.00
IGL02936:Ccdc36	APN	9	108412503	missense	possibly damaging	0.69
IGL03150:Ccdc36	APN	9	108404956	missense	probably damaging	0.98
IGL03163:Ccdc36	APN	9	108404933	missense	probably benign	0.00
IGL03280:Ccdc36	APN	9	108404900	missense	possibly damaging	0.92
R0139:Ccdc36	UTSW	9	108412496	missense	probably damaging	1.00
R0276:Ccdc36	UTSW	9	108428440	missense	possibly damaging	0.84
R0744:Ccdc36	UTSW	9	108404801	missense	probably benign
R0836:Ccdc36	UTSW	9	108404801	missense	probably benign
R1792:Ccdc36	UTSW	9	108404912	missense	possibly damaging	0.84
R1918:Ccdc36	UTSW	9	108412985	missense	probably benign	0.16
R2284:Ccdc36	UTSW	9	108421473	missense	probably damaging	1.00
R2401:Ccdc36	UTSW	9	108413006	missense	possibly damaging	0.53
R4731:Ccdc36	UTSW	9	108405385	missense	probably benign	0.00
R4819:Ccdc36	UTSW	9	108406678	missense	probably benign	0.10
R4950:Ccdc36	UTSW	9	108421510	missense	probably damaging	1.00
R4968:Ccdc36	UTSW	9	108412514	missense	probably benign	0.11
R7131:Ccdc36	UTSW	9	108417420	missense	probably benign	0.01
R7201:Ccdc36	UTSW	9	108404775	missense	probably damaging	0.98
R7950:Ccdc36	UTSW	9	108405671	missense	probably benign
R8778:Ccdc36	UTSW	9	108405608	missense	probably damaging	0.97
R9316:Ccdc36	UTSW	9	108421527	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- GCAGTGATGCCTAGCTATGAAAG -3'
(R):5'- ACAGATGGGCTCCATAGAGG -3'

Sequencing Primer
(F):5'- AAAGCACAGGCCGCCTTTG -3'
(R):5'- CTCCATAGAGGCGATGGGCATG -3'

Posted On

2022-07-18