Mutagenetix > Incidental Mutation

Incidental Mutation 'R9019:Ccdc27'

686597

Institutional Source

Beutler Lab

Gene Symbol

Ccdc27

Ensembl Gene

ENSMUSG00000039492

Gene Name

coiled-coil domain containing 27

Synonyms

LOC381580

MMRRC Submission

068849-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R9019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154111096-154127134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154124014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 173 (V173A)

Ref Sequence

ENSEMBL: ENSMUSP00000039642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047207]

AlphaFold

Q3V036

Predicted Effect

unknown
Transcript: ENSMUST00000047207
AA Change: V173A

SMART Domains

Protein: ENSMUSP00000039642
Gene: ENSMUSG00000039492
AA Change: V173A

Domain	Start	End	E-Value	Type
low complexity region	39	53	N/A	INTRINSIC
coiled coil region	203	243	N/A	INTRINSIC
low complexity region	305	320	N/A	INTRINSIC
low complexity region	329	358	N/A	INTRINSIC
coiled coil region	390	575	N/A	INTRINSIC

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,011,522 (GRCm39)	T1174S		Het
Aoc2	C	T	11: 101,216,262 (GRCm39)	P115L	possibly damaging	Het
Arhgef19	C	T	4: 140,973,738 (GRCm39)	P75L	probably benign	Het
Atad3a	A	G	4: 155,838,052 (GRCm39)	V240A	possibly damaging	Het
AW551984	A	T	9: 39,508,973 (GRCm39)	L317*	probably null	Het
Bdkrb1	T	C	12: 105,570,700 (GRCm39)	S89P	probably damaging	Het
Bpifb4	T	A	2: 153,790,607 (GRCm39)	L166*	probably null	Het
Ccl8	T	C	11: 82,006,877 (GRCm39)	V30A	probably benign	Het
Cdc16	C	T	8: 13,831,501 (GRCm39)	A578V	probably benign	Het
Cnksr1	T	C	4: 133,959,365 (GRCm39)	Y423C	probably damaging	Het
Cyp3a44	T	C	5: 145,727,519 (GRCm39)	D270G	probably damaging	Het
Ep300	A	G	15: 81,532,730 (GRCm39)	E1656G	unknown	Het
Eppk1	A	G	15: 75,992,472 (GRCm39)	F1470L	probably benign	Het
Fbxw16	T	A	9: 109,270,135 (GRCm39)	D202V	probably damaging	Het
Fndc3a	G	A	14: 72,811,840 (GRCm39)	T330I	probably benign	Het
Gm36864	A	T	7: 43,887,028 (GRCm39)	Q307L	probably benign	Het
Gm37240	T	C	3: 84,426,946 (GRCm39)	E38G	probably damaging	Het
Gm6871	A	T	7: 41,195,262 (GRCm39)	C492S	probably damaging	Het
Gnaq	T	C	19: 16,355,638 (GRCm39)	Y285H	probably benign	Het
Htt	T	A	5: 35,023,920 (GRCm39)	F1723I	probably damaging	Het
Il21r	G	A	7: 125,231,472 (GRCm39)	S300N	probably damaging	Het
Itm2b	G	A	14: 73,605,856 (GRCm39)		probably benign	Het
Kat6a	T	C	8: 23,425,754 (GRCm39)	S1100P	probably damaging	Het
Kcnj2	T	C	11: 110,963,415 (GRCm39)	I269T	probably damaging	Het
Kmt2c	G	A	5: 25,488,208 (GRCm39)	A4635V	probably damaging	Het
Kng2	A	T	16: 22,847,546 (GRCm39)	D38E	probably damaging	Het
Lgr5	A	C	10: 115,314,454 (GRCm39)	L161R	probably damaging	Het
Lrig2	A	T	3: 104,368,914 (GRCm39)	I923N	probably benign	Het
Mrgprh	T	C	17: 13,096,200 (GRCm39)	S147P	probably damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nsmaf	A	T	4: 6,418,523 (GRCm39)	S427R	probably damaging	Het
Or8g53	G	T	9: 39,684,038 (GRCm39)	D19E	probably benign	Het
Pdcd11	G	T	19: 47,101,658 (GRCm39)	G948C	probably damaging	Het
Pdzd2	A	G	15: 12,375,612 (GRCm39)	Y1508H	probably damaging	Het
Prmt5	G	T	14: 54,753,564 (GRCm39)	A105E	probably benign	Het
Prr23a3	T	C	9: 98,747,213 (GRCm39)	S56P	probably damaging	Het
Slc44a2	A	G	9: 21,265,077 (GRCm39)	E705G	probably damaging	Het
Sostdc1	A	T	12: 36,364,431 (GRCm39)	N47Y	probably benign	Het
Speg	T	C	1: 75,405,882 (GRCm39)	Y3029H	probably damaging	Het
Srd5a1	G	A	13: 69,748,413 (GRCm39)	R129*	probably null	Het
Srrm4	A	G	5: 116,605,586 (GRCm39)	S224P	unknown	Het
Syne2	A	G	12: 75,999,618 (GRCm39)	E2337G	possibly damaging	Het
Tmem150c	C	A	5: 100,240,958 (GRCm39)	V32L	probably benign	Het
Topaz1	T	C	9: 122,619,192 (GRCm39)	I1263T	possibly damaging	Het
Ttc39d	C	T	17: 80,523,349 (GRCm39)	R3W	probably benign	Het
Xylt1	T	C	7: 117,250,038 (GRCm39)		probably null	Het
Zfp933	A	T	4: 147,911,021 (GRCm39)	C192S	probably damaging	Het
Zswim8	G	A	14: 20,761,119 (GRCm39)	G129D	probably damaging	Het

Other mutations in Ccdc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4466001:Ccdc27	UTSW	4	154,126,184 (GRCm39)	missense	unknown
PIT4472001:Ccdc27	UTSW	4	154,126,184 (GRCm39)	missense	unknown
R0078:Ccdc27	UTSW	4	154,120,195 (GRCm39)	splice site	probably benign
R0883:Ccdc27	UTSW	4	154,120,941 (GRCm39)	missense	unknown
R1389:Ccdc27	UTSW	4	154,126,226 (GRCm39)	missense	unknown
R1773:Ccdc27	UTSW	4	154,126,222 (GRCm39)	missense	unknown
R1869:Ccdc27	UTSW	4	154,111,220 (GRCm39)	splice site	probably null
R2020:Ccdc27	UTSW	4	154,117,770 (GRCm39)	missense	probably null	0.05
R2070:Ccdc27	UTSW	4	154,126,270 (GRCm39)	missense	unknown
R2131:Ccdc27	UTSW	4	154,120,763 (GRCm39)	small deletion	probably benign
R3825:Ccdc27	UTSW	4	154,120,742 (GRCm39)	missense	unknown
R4183:Ccdc27	UTSW	4	154,120,763 (GRCm39)	small deletion	probably benign
R4254:Ccdc27	UTSW	4	154,123,976 (GRCm39)	missense	unknown
R5932:Ccdc27	UTSW	4	154,111,231 (GRCm39)	missense	probably benign	0.22
R6269:Ccdc27	UTSW	4	154,122,179 (GRCm39)	missense	unknown
R6324:Ccdc27	UTSW	4	154,120,648 (GRCm39)	missense	probably benign	0.02
R6761:Ccdc27	UTSW	4	154,122,155 (GRCm39)	missense	unknown
R7090:Ccdc27	UTSW	4	154,112,523 (GRCm39)	missense	probably benign	0.03
R7163:Ccdc27	UTSW	4	154,117,282 (GRCm39)	missense	not run
R7488:Ccdc27	UTSW	4	154,117,424 (GRCm39)	missense	probably benign	0.22
R7555:Ccdc27	UTSW	4	154,126,274 (GRCm39)	missense	unknown
R7651:Ccdc27	UTSW	4	154,112,556 (GRCm39)	missense	probably damaging	1.00
R7826:Ccdc27	UTSW	4	154,123,958 (GRCm39)	critical splice donor site	probably null
R8250:Ccdc27	UTSW	4	154,126,245 (GRCm39)	missense	unknown
R8815:Ccdc27	UTSW	4	154,111,205 (GRCm39)	missense	probably benign	0.02
R8835:Ccdc27	UTSW	4	154,127,023 (GRCm39)	missense	unknown
R9224:Ccdc27	UTSW	4	154,122,174 (GRCm39)	missense	unknown
R9252:Ccdc27	UTSW	4	154,125,507 (GRCm39)	missense	unknown
R9267:Ccdc27	UTSW	4	154,117,441 (GRCm39)	missense	probably damaging	1.00
RF016:Ccdc27	UTSW	4	154,120,567 (GRCm39)	missense	probably benign	0.04
Z1177:Ccdc27	UTSW	4	154,120,928 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGAGAAACGGTGCATGTCC -3'
(R):5'- GGTGGATACTACCATGGAAGATTCC -3'

Sequencing Primer
(F):5'- AAACGGTGCATGTCCCTGAG -3'
(R):5'- TTCCACAGCAGATCCACAGGG -3'

Posted On

2021-11-19