Mutagenetix > Incidental Mutation

Incidental Mutation 'R9316:Ccdc36'

705885

Institutional Source

Beutler Lab

Gene Symbol

Ccdc36

Ensembl Gene

ENSMUSG00000047220

Gene Name

coiled-coil domain containing 36

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R9316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108403611-108428484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108421527 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 31 (T31A)

Ref Sequence

ENSEMBL: ENSMUSP00000075898 (fasta)

Gene Model

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

AlphaFold

Q6PDM4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076592
AA Change: T31A

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: T31A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

91% (32/35)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	C	A	2: 158,635,354	N408K	probably benign	Het
AI661453	A	G	17: 47,436,907	I35V	probably benign	Het
Asb10	G	T	5: 24,540,047	N101K	possibly damaging	Het
Bpifa6	T	C	2: 153,986,463	V163A	possibly damaging	Het
Dmp1	G	T	5: 104,209,901	D36Y	probably benign	Het
Eef1d	T	A	15: 75,909,281		probably benign	Het
Gcm2	C	T	13: 41,105,852	R47H	probably damaging	Het
Gm7145	A	G	1: 117,968,444	N72S	probably benign	Het
Gpr45	T	A	1: 43,032,374	V59E	probably damaging	Het
Gucy1a1	T	C	3: 82,108,943	E246G	possibly damaging	Het
Hspa12a	C	T	19: 58,804,647	E369K	probably benign	Het
Il6st	T	A	13: 112,502,815	N652K	possibly damaging	Het
Kdm5a	T	A	6: 120,405,012	D672E	probably damaging	Het
Klk6	T	C	7: 43,828,488	S95P	probably benign	Het
Lrrc51	C	T	7: 101,913,144	R169H	probably damaging	Het
Olfr295	T	C	7: 86,585,926	V217A	probably benign	Het
Olfr399	A	T	11: 74,054,066	I231N	probably damaging	Het
Pacsin1	A	G	17: 27,705,733	K186E	possibly damaging	Het
Pate3	C	T	9: 35,646,078	C94Y	probably damaging	Het
Pcdh18	G	A	3: 49,754,640	T742M	probably damaging	Het
Pogz	T	A	3: 94,877,348	S779T	probably damaging	Het
Prep	A	T	10: 45,091,096	K75M	probably damaging	Het
Qsox2	T	G	2: 26,211,072	K475T	probably benign	Het
Qsox2	T	A	2: 26,211,073	K475*	probably null	Het
Rfng	A	T	11: 120,784,037	D42E	unknown	Het
Ripor2	C	T	13: 24,721,736	T955M	probably benign	Het
Ryr1	C	T	7: 29,017,962	E4554K	unknown	Het
Slco1a5	A	T	6: 142,250,209	L356H	probably damaging	Het
Tbc1d21	G	A	9: 58,366,932	A30V	probably benign	Het
Tmem161b	C	A	13: 84,282,736	H158N	possibly damaging	Het
Tmem217	A	G	17: 29,526,409	F116L	probably benign	Het
Tnfrsf13c	A	G	15: 82,223,820	I119T	probably benign	Het
Tpp2	G	A	1: 43,978,444	R736H	probably damaging	Het
Vmn2r75	T	A	7: 86,148,105	R833S	possibly damaging	Het
Zfp330	A	G	8: 82,764,858	S229P	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
R9501:Ccdc36	UTSW	9	108405301	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCAAGCACAAACCCATTTAGGATAG -3'
(R):5'- GCAGAGCTACATAATAGAGAGCCTATC -3'

Sequencing Primer
(F):5'- CTGTAATTCCAACAATCAGGAGGCTG -3'
(R):5'- AGAGCCTATCTCAAAACGACG -3'

Posted On

2022-03-25