Mutagenetix > Incidental Mutation

Incidental Mutation 'R6220:Cc2d1b'

503938

Institutional Source

Beutler Lab

Gene Symbol

Cc2d1b

Ensembl Gene

ENSMUSG00000028582

Gene Name

coiled-coil and C2 domain containing 1B

Synonyms

Freud2, A830039B04Rik

MMRRC Submission

044352-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.631) question?

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108477137-108491320 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108490422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 825 (R825W)

Ref Sequence

ENSEMBL: ENSMUSP00000030320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030320] [ENSMUST00000106657] [ENSMUST00000106658]

AlphaFold

Q8BRN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030320
AA Change: R825W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582
AA Change: R825W

Domain	Start	End	E-Value	Type
low complexity region	39	59	N/A	INTRINSIC
low complexity region	90	110	N/A	INTRINSIC
DM14	167	224	1.11e-20	SMART
DM14	278	335	5.07e-24	SMART
low complexity region	370	382	N/A	INTRINSIC
DM14	383	441	8.62e-27	SMART
low complexity region	487	498	N/A	INTRINSIC
low complexity region	509	522	N/A	INTRINSIC
DM14	527	585	6.44e-26	SMART
coiled coil region	604	626	N/A	INTRINSIC
C2	690	804	8.05e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106657

SMART Domains

Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557

Domain	Start	End	E-Value	Type
low complexity region	230	243	N/A	INTRINSIC
low complexity region	471	487	N/A	INTRINSIC
low complexity region	578	587	N/A	INTRINSIC
Blast:FYVE	590	618	7e-6	BLAST
FYVE	663	731	2.38e-26	SMART
Pfam:SARA	745	783	1.3e-22	PFAM
Pfam:DUF3480	1020	1372	1e-178	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106658

SMART Domains

Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557

Domain	Start	End	E-Value	Type
low complexity region	230	243	N/A	INTRINSIC
low complexity region	471	487	N/A	INTRINSIC
low complexity region	578	587	N/A	INTRINSIC
Blast:FYVE	590	618	8e-6	BLAST
FYVE	663	731	2.38e-26	SMART
Pfam:DUF3480	960	1313	5.5e-189	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126156

Predicted Effect

unknown
Transcript: ENSMUST00000134844
AA Change: R746W

SMART Domains

Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582
AA Change: R746W

Domain	Start	End	E-Value	Type
low complexity region	31	51	N/A	INTRINSIC
DM14	108	165	1.11e-20	SMART
DM14	200	257	5.07e-24	SMART
low complexity region	292	304	N/A	INTRINSIC
DM14	305	363	8.62e-27	SMART
low complexity region	409	420	N/A	INTRINSIC
low complexity region	431	444	N/A	INTRINSIC
DM14	449	507	6.44e-26	SMART
coiled coil region	525	547	N/A	INTRINSIC
C2	612	726	8.05e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176877

Meta Mutation Damage Score

0.9184

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,135,578 (GRCm39)	D160G	probably damaging	Het
Acap1	A	G	11: 69,780,505 (GRCm39)	F15S	probably damaging	Het
Adam30	A	T	3: 98,068,625 (GRCm39)	S153C	probably damaging	Het
Afp	A	T	5: 90,652,269 (GRCm39)	D420V	possibly damaging	Het
Ak9	T	A	10: 41,246,095 (GRCm39)	H729Q	unknown	Het
Armh3	T	C	19: 45,834,554 (GRCm39)	E618G	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bcr	A	G	10: 74,898,124 (GRCm39)	T423A	probably benign	Het
Ctns	T	C	11: 73,083,954 (GRCm39)	T23A	probably benign	Het
Ddx54	T	A	5: 120,758,754 (GRCm39)	N332K	probably benign	Het
Dysf	T	A	6: 84,126,727 (GRCm39)	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,122,939 (GRCm39)	M172L	probably benign	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Filip1l	T	A	16: 57,390,352 (GRCm39)	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,947 (GRCm39)	T716K	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10645	A	G	8: 83,892,386 (GRCm39)		probably benign	Het
Gm10735	T	C	13: 113,178,030 (GRCm39)		probably benign	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,521,134 (GRCm39)	L388P	probably damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Herc1	A	G	9: 66,341,070 (GRCm39)	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,557,112 (GRCm39)	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,226,338 (GRCm39)	N96I	probably damaging	Het
Isl1	T	C	13: 116,439,803 (GRCm39)	T182A	probably benign	Het
Jph4	T	C	14: 55,347,542 (GRCm39)	E421G	probably benign	Het
Lrrc45	T	C	11: 120,610,353 (GRCm39)	I488T	probably benign	Het
Mroh8	A	G	2: 157,075,083 (GRCm39)	I471T	probably benign	Het
Ms4a2	A	T	19: 11,594,927 (GRCm39)	D96E	probably damaging	Het
Mst1r	T	A	9: 107,784,547 (GRCm39)	N68K	probably benign	Het
Myo18b	A	G	5: 112,905,373 (GRCm39)	M2075T	possibly damaging	Het
Neb	T	C	2: 52,160,984 (GRCm39)	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,643,987 (GRCm39)		probably null	Het
Nlrp1a	C	A	11: 71,033,164 (GRCm39)	S10I	probably benign	Het
Npas2	A	T	1: 39,375,142 (GRCm39)	T487S	probably benign	Het
Nrxn1	G	C	17: 91,395,904 (GRCm39)	T84R	probably benign	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,699,700 (GRCm39)	C921R	probably damaging	Het
Pcdha9	A	G	18: 37,131,531 (GRCm39)	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,822,177 (GRCm39)	R315*	probably null	Het
Rasgrp1	C	T	2: 117,115,410 (GRCm39)	W726*	probably null	Het
Rassf8	G	A	6: 145,762,859 (GRCm39)	R402H	probably damaging	Het
Rev3l	T	A	10: 39,698,775 (GRCm39)	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,282,608 (GRCm39)	V349G	probably damaging	Het
Rps18	A	T	17: 34,174,110 (GRCm39)	V15E	probably damaging	Het
Rptor	A	T	11: 119,788,268 (GRCm39)	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 95,385,378 (GRCm39)	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,875 (GRCm39)	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,091,313 (GRCm39)	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,274,800 (GRCm39)	M295K	possibly damaging	Het
Sv2c	T	C	13: 96,113,134 (GRCm39)	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,750,947 (GRCm39)	W252*	probably null	Het
Tes	T	A	6: 17,086,195 (GRCm39)	C29*	probably null	Het
Thsd4	A	G	9: 59,890,030 (GRCm39)	W856R	probably damaging	Het
Treml4	A	T	17: 48,571,876 (GRCm39)	D93V	possibly damaging	Het
Trim66	T	C	7: 109,082,300 (GRCm39)	T218A	probably damaging	Het
Tssk5	T	C	15: 76,257,973 (GRCm39)	D128G	probably damaging	Het
Ubr3	T	A	2: 69,850,819 (GRCm39)	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,201,434 (GRCm39)	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,315,807 (GRCm39)	D86E	probably benign	Het
Zfp184	T	G	13: 22,144,377 (GRCm39)	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,927,141 (GRCm39)	F341L	probably benign	Het

Other mutations in Cc2d1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Cc2d1b	APN	4	108,484,575 (GRCm39)	missense	probably damaging	1.00
IGL00507:Cc2d1b	APN	4	108,486,927 (GRCm39)	missense	probably damaging	1.00
IGL00596:Cc2d1b	APN	4	108,484,503 (GRCm39)	missense	probably damaging	1.00
IGL02800:Cc2d1b	APN	4	108,483,333 (GRCm39)	missense	probably benign	0.00
IGL02937:Cc2d1b	APN	4	108,489,091 (GRCm39)	missense	probably damaging	1.00
R0440:Cc2d1b	UTSW	4	108,483,013 (GRCm39)	critical splice donor site	probably null
R1513:Cc2d1b	UTSW	4	108,490,423 (GRCm39)	missense	probably damaging	1.00
R1592:Cc2d1b	UTSW	4	108,483,868 (GRCm39)	unclassified	probably benign
R1663:Cc2d1b	UTSW	4	108,480,744 (GRCm39)	missense	probably damaging	1.00
R4235:Cc2d1b	UTSW	4	108,482,549 (GRCm39)	intron	probably benign
R4361:Cc2d1b	UTSW	4	108,481,947 (GRCm39)	intron	probably benign
R4739:Cc2d1b	UTSW	4	108,485,239 (GRCm39)	missense	probably benign	0.02
R5068:Cc2d1b	UTSW	4	108,480,661 (GRCm39)	missense	possibly damaging	0.92
R5152:Cc2d1b	UTSW	4	108,483,283 (GRCm39)	missense	probably benign	0.10
R5271:Cc2d1b	UTSW	4	108,480,826 (GRCm39)	intron	probably benign
R5520:Cc2d1b	UTSW	4	108,483,556 (GRCm39)	missense	possibly damaging	0.53
R6196:Cc2d1b	UTSW	4	108,490,422 (GRCm39)	missense	probably damaging	1.00
R6197:Cc2d1b	UTSW	4	108,490,422 (GRCm39)	missense	probably damaging	1.00
R6198:Cc2d1b	UTSW	4	108,490,422 (GRCm39)	missense	probably damaging	1.00
R6299:Cc2d1b	UTSW	4	108,485,335 (GRCm39)	missense	probably benign	0.01
R7244:Cc2d1b	UTSW	4	108,486,799 (GRCm39)	missense	probably benign	0.32
R7293:Cc2d1b	UTSW	4	108,488,873 (GRCm39)	missense	probably benign	0.40
R8105:Cc2d1b	UTSW	4	108,485,130 (GRCm39)	missense	possibly damaging	0.87
R8835:Cc2d1b	UTSW	4	108,484,264 (GRCm39)	missense	probably damaging	0.96
R8991:Cc2d1b	UTSW	4	108,482,143 (GRCm39)	missense	probably benign	0.02
R9022:Cc2d1b	UTSW	4	108,484,617 (GRCm39)	critical splice donor site	probably null
R9068:Cc2d1b	UTSW	4	108,482,062 (GRCm39)	missense	probably damaging	1.00
R9196:Cc2d1b	UTSW	4	108,485,134 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCCATATTGCAGGAAGAAGGC -3'
(R):5'- TTCCTGCCCCAAGTCTACTGAG -3'

Sequencing Primer
(F):5'- AAGGCTGGGCTCTCCTGAAG -3'
(R):5'- GCCCCAAGTCTACTGAGGAACTTTAG -3'

Posted On

2018-02-27