Mutagenetix > Incidental Mutations

Incidental Mutation 'R5271:Cc2d1b'

400280

Institutional Source

Beutler Lab

Gene Symbol

Cc2d1b

Ensembl Gene

ENSMUSG00000028582

Gene Name

coiled-coil and C2 domain containing 1B

Synonyms

Freud2, A830039B04Rik

MMRRC Submission

042861-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R5271 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

108619940-108634123 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 108623629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8BRN9

Predicted Effect

probably benign
Transcript: ENSMUST00000030320

SMART Domains

Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582

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

noncoding transcript
Transcript: ENSMUST00000106665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126668

Predicted Effect

probably benign
Transcript: ENSMUST00000134844

SMART Domains

Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582

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

probably benign
Transcript: ENSMUST00000139962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193462

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,579,847	K33R	possibly damaging	Het
4632415L05Rik	C	T	3: 19,895,147		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,615,530		noncoding transcript	Het
Adprh	A	T	16: 38,446,054	L242*	probably null	Het
Anapc1	G	A	2: 128,685,985	Q18*	probably null	Het
Bfar	T	C	16: 13,692,397		probably benign	Het
Bmp1	T	C	14: 70,508,128	I206V	probably benign	Het
Clock	A	G	5: 76,241,954	I349T	probably damaging	Het
Cox11	A	G	11: 90,643,732	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,702,838	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,187,688	F311S	probably benign	Het
Dnase1l3	T	C	14: 7,993,843	D48G	probably damaging	Het
Engase	G	T	11: 118,481,397	A172S	probably damaging	Het
F2	T	C	2: 91,635,121		probably benign	Het
Gcc2	T	C	10: 58,269,695	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm14548	A	T	7: 3,897,567	Y61*	probably null	Het
Gm20388	A	G	8: 122,271,133		probably benign	Het
Gm20671	T	C	5: 32,819,959	K1817R	possibly damaging	Het
Gm20939	T	A	17: 94,877,155	Y410*	probably null	Het
Gm27013	T	C	6: 130,676,915	Y528C	probably damaging	Het
Gm9992	T	C	17: 7,369,682	N149S	possibly damaging	Het
Il23r	T	C	6: 67,423,696	H550R	probably benign	Het
Iqgap1	A	T	7: 80,734,148	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,788,301	Y679F	probably damaging	Het
Megf8	A	T	7: 25,341,706	E1120V	probably damaging	Het
Mta1	A	G	12: 113,131,957	E518G	probably damaging	Het
Myo9a	A	G	9: 59,907,382	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,722,729	H66R	probably benign	Het
Ncor1	A	G	11: 62,340,545	V812A	probably damaging	Het
Ndnf	T	C	6: 65,703,666	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,705,132	T347I	probably benign	Het
Olfr1229	A	T	2: 89,282,953	F60Y	probably benign	Het
Olfr512	T	C	7: 108,714,217	L276S	probably damaging	Het
Pcdhb10	C	A	18: 37,413,169	Q433K	probably benign	Het
Pcdhb18	G	A	18: 37,491,596	V660M	possibly damaging	Het
Pds5b	T	A	5: 150,723,353	N202K	possibly damaging	Het
Polk	T	C	13: 96,483,539	S718G	probably benign	Het
Ptpdc1	T	C	13: 48,590,698	D149G	probably damaging	Het
Rb1cc1	T	A	1: 6,249,193	C35*	probably null	Het
Samd9l	C	T	6: 3,376,156	M368I	probably benign	Het
Shroom3	T	C	5: 92,962,248	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,463,748	L226P	probably damaging	Het
St7l	A	T	3: 104,868,060	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329	N392I	probably benign	Het
Syngr1	T	A	15: 80,098,039	M9K	probably benign	Het
Taar2	T	C	10: 23,941,032	S157P	probably damaging	Het
Tagap1	G	T	17: 6,956,096	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,373,767	E976V	probably damaging	Het
Tmem163	G	A	1: 127,491,552		probably benign	Het
Tnfaip2	A	G	12: 111,448,460		probably benign	Het
Ttn	C	T	2: 76,706,517	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,120,238	N15K	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zap70	T	A	1: 36,781,365	V547D	probably damaging	Het
Zfp146	G	T	7: 30,162,475	N47K	probably benign	Het
Znrf1	T	G	8: 111,609,344	M159R	probably benign	Het

Other mutations in Cc2d1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Cc2d1b	APN	4	108627378	missense	probably damaging	1.00
IGL00507:Cc2d1b	APN	4	108629730	missense	probably damaging	1.00
IGL00596:Cc2d1b	APN	4	108627306	missense	probably damaging	1.00
IGL02800:Cc2d1b	APN	4	108626136	missense	probably benign	0.00
IGL02937:Cc2d1b	APN	4	108631894	missense	probably damaging	1.00
R0440:Cc2d1b	UTSW	4	108625816	critical splice donor site	probably null
R1513:Cc2d1b	UTSW	4	108633226	missense	probably damaging	1.00
R1592:Cc2d1b	UTSW	4	108626671	unclassified	probably benign
R1663:Cc2d1b	UTSW	4	108623547	missense	probably damaging	1.00
R4235:Cc2d1b	UTSW	4	108625352	intron	probably benign
R4361:Cc2d1b	UTSW	4	108624750	intron	probably benign
R4739:Cc2d1b	UTSW	4	108628042	missense	probably benign	0.02
R5068:Cc2d1b	UTSW	4	108623464	missense	possibly damaging	0.92
R5152:Cc2d1b	UTSW	4	108626086	missense	probably benign	0.10
R5520:Cc2d1b	UTSW	4	108626359	missense	possibly damaging	0.53
R6196:Cc2d1b	UTSW	4	108633225	missense	probably damaging	1.00
R6197:Cc2d1b	UTSW	4	108633225	missense	probably damaging	1.00
R6198:Cc2d1b	UTSW	4	108633225	missense	probably damaging	1.00
R6220:Cc2d1b	UTSW	4	108633225	missense	probably damaging	1.00
R6299:Cc2d1b	UTSW	4	108628138	missense	probably benign	0.01
R7244:Cc2d1b	UTSW	4	108629602	missense	probably benign	0.32
R7293:Cc2d1b	UTSW	4	108631676	missense	probably benign	0.40
R8105:Cc2d1b	UTSW	4	108627933	missense	possibly damaging	0.87
R8835:Cc2d1b	UTSW	4	108627067	missense	probably damaging	0.96
R8991:Cc2d1b	UTSW	4	108624946	missense	probably benign	0.02
R9022:Cc2d1b	UTSW	4	108627420	critical splice donor site	probably null
R9068:Cc2d1b	UTSW	4	108624865	missense	probably damaging	1.00
R9196:Cc2d1b	UTSW	4	108627937	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTTGTGGAGTTCAACCCTGAGG -3'
(R):5'- AGTGCTATTTTGAGCCCCTACTG -3'

Sequencing Primer
(F):5'- GTTCAACCCTGAGGACATGCTC -3'
(R):5'- GCTCTGCCTATGTAGAACTAAGGC -3'

Posted On

2016-07-06