Mutagenetix > Incidental Mutation

Incidental Mutation 'R1371:Ccdc181'

157298

Institutional Source

Beutler Lab

Gene Symbol

Ccdc181

Ensembl Gene

ENSMUSG00000026578

Gene Name

coiled-coil domain containing 181

Synonyms

4930455F23Rik

MMRRC Submission

039435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164275585-164287847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164280603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 285 (E285G)

Ref Sequence

ENSEMBL: ENSMUSP00000027867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027867]

AlphaFold

Q80ZU5

Predicted Effect

probably benign
Transcript: ENSMUST00000027867
AA Change: E285G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027867
Gene: ENSMUSG00000026578
AA Change: E285G

Domain	Start	End	E-Value	Type
low complexity region	116	122	N/A	INTRINSIC
coiled coil region	334	378	N/A	INTRINSIC
low complexity region	474	485	N/A	INTRINSIC

Meta Mutation Damage Score

0.0692

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 89.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,953,553	D884V	probably damaging	Het
Acvr2a	C	T	2: 48,899,616	T457M	probably damaging	Het
Akr1b10	C	T	6: 34,392,459	T208I	probably benign	Het
Aldh16a1	G	T	7: 45,147,250	T275K	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Asgr1	T	G	11: 70,056,097	C56W	probably benign	Het
Atp11b	T	C	3: 35,806,769	I335T	probably damaging	Het
BC061237	A	G	14: 44,504,305		probably benign	Het
Bdh1	G	T	16: 31,456,902	K280N	probably benign	Het
Bmp1	C	T	14: 70,492,466	C466Y	probably damaging	Het
Ces1f	C	T	8: 93,279,649	G18R	probably damaging	Het
Cfap43	T	A	19: 47,835,606	I109L	possibly damaging	Het
Cma2	T	C	14: 55,972,826	L56S	probably damaging	Het
Edc4	A	G	8: 105,890,750		probably benign	Het
F3	T	C	3: 121,732,510	C241R	probably damaging	Het
Fhdc1	T	A	3: 84,445,003	S972C	probably damaging	Het
H2afy2	A	T	10: 61,749,333	D177E	possibly damaging	Het
Heatr1	T	G	13: 12,417,632	I1086R	possibly damaging	Het
Hsh2d	A	T	8: 72,196,894		probably benign	Het
Ice1	T	C	13: 70,596,221	Y2081C	probably damaging	Het
Il1rl1	A	G	1: 40,442,713	N194D	probably damaging	Het
Ip6k1	G	A	9: 108,045,823	V385M	probably damaging	Het
Lig1	G	A	7: 13,288,685	R147Q	probably damaging	Het
Lrp1b	C	T	2: 40,647,153	V41I	probably damaging	Het
Mst1r	T	A	9: 107,917,225	V1201E	probably damaging	Het
Myof	T	C	19: 37,903,668		probably benign	Het
Nbas	G	T	12: 13,482,378		probably benign	Het
Ndst1	A	G	18: 60,707,647	I321T	possibly damaging	Het
Nek10	G	A	14: 14,850,983	G343R	probably damaging	Het
Olfr13	A	T	6: 43,174,300	T105S	probably benign	Het
Olfr1385	T	A	11: 49,494,823	C97S	probably damaging	Het
Olfr462	A	T	11: 87,889,296	I200N	probably damaging	Het
Pde4d	T	C	13: 109,117,061	S141P	probably benign	Het
Pigm	A	T	1: 172,376,814	Q39L	probably damaging	Het
Prl7a2	T	A	13: 27,662,767	I88F	probably benign	Het
Prss16	T	A	13: 22,008,686		probably benign	Het
Psmc4	G	A	7: 28,042,797		probably benign	Het
Ptger3	T	A	3: 157,567,728	C237*	probably null	Het
Recql	G	A	6: 142,372,875	T214M	probably damaging	Het
Rfx7	T	A	9: 72,619,575	V1349D	probably damaging	Het
Ros1	A	G	10: 52,087,945	S1740P	probably damaging	Het
Rrm2b	A	T	15: 37,946,809	S83T	probably benign	Het
Sall4	A	G	2: 168,756,474	Y149H	probably benign	Het
Smad1	A	G	8: 79,349,578		probably benign	Het
Snrnp70	T	C	7: 45,380,705		probably benign	Het
Spef2	C	A	15: 9,725,108		probably benign	Het
Sptlc1	T	C	13: 53,351,624	T253A	probably benign	Het
Zbbx	T	C	3: 75,052,477	Y595C	possibly damaging	Het
Zfp382	T	C	7: 30,133,689	V255A	probably benign	Het

Other mutations in Ccdc181

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Ccdc181	APN	1	164280144	missense	possibly damaging	0.75
IGL02634:Ccdc181	APN	1	164279945	missense	probably benign	0.00
IGL02902:Ccdc181	APN	1	164279901	missense	probably benign
IGL03201:Ccdc181	APN	1	164280644	missense	probably benign	0.13
R1228:Ccdc181	UTSW	1	164286391	nonsense	probably null
R1819:Ccdc181	UTSW	1	164282478	nonsense	probably null
R2240:Ccdc181	UTSW	1	164280027	missense	probably damaging	1.00
R3160:Ccdc181	UTSW	1	164280296	missense	probably damaging	0.97
R3162:Ccdc181	UTSW	1	164280296	missense	probably damaging	0.97
R4678:Ccdc181	UTSW	1	164278277	missense	probably damaging	1.00
R5286:Ccdc181	UTSW	1	164278241	missense	probably damaging	1.00
R6179:Ccdc181	UTSW	1	164279918	missense	probably benign	0.21
R6886:Ccdc181	UTSW	1	164280096	missense	probably damaging	0.96
R7517:Ccdc181	UTSW	1	164280420	missense	probably damaging	1.00
R7528:Ccdc181	UTSW	1	164279958	missense	probably benign
R9012:Ccdc181	UTSW	1	164282493	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAGCTTCTTCAGACTCAAGAGCC -3'
(R):5'- TGAAATGCACTCTTCTTCCCACACG -3'

Sequencing Primer
(F):5'- TGATCTGGAAGTCCCACCATTAG -3'
(R):5'- TGAGCTTTTCACGCTTTCG -3'

Posted On

2014-02-18