Mutagenetix > Incidental Mutation

Incidental Mutation 'R0440:Cc2d1b'

46679

Institutional Source

Beutler Lab

Gene Symbol

Cc2d1b

Ensembl Gene

ENSMUSG00000028582

Gene Name

coiled-coil and C2 domain containing 1B

Synonyms

Freud2, A830039B04Rik

MMRRC Submission

038641-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.615) question?

Stock #

R0440 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

108477137-108491320 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 108483013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8BRN9

Predicted Effect

probably null
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: ENSMUST00000126156

Predicted Effect

probably null
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: ENSMUST00000143336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176877

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,694 (GRCm39)	R30W	probably damaging	Het
Adam7	T	C	14: 68,748,305 (GRCm39)		probably null	Het
Agl	A	T	3: 116,552,455 (GRCm39)	L1158Q	probably damaging	Het
Akap9	T	C	5: 4,114,569 (GRCm39)	S66P	probably damaging	Het
Akr1c20	T	A	13: 4,537,207 (GRCm39)	D316V	probably benign	Het
App	C	A	16: 84,853,302 (GRCm39)	E259*	probably null	Het
Arhgef4	A	G	1: 34,784,529 (GRCm39)		probably null	Het
Armc9	G	A	1: 86,121,984 (GRCm39)		probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Btaf1	C	T	19: 36,964,053 (GRCm39)	P875S	probably damaging	Het
Ccar1	C	T	10: 62,616,236 (GRCm39)	V165I	possibly damaging	Het
Ccdc106	A	T	7: 5,063,244 (GRCm39)	I250F	probably damaging	Het
Ccny	T	C	18: 9,332,917 (GRCm39)	I205V	probably benign	Het
Cfap52	T	A	11: 67,844,914 (GRCm39)	I52L	probably benign	Het
Chd8	T	A	14: 52,442,283 (GRCm39)	T2096S	possibly damaging	Het
Clstn3	G	A	6: 124,428,372 (GRCm39)	T423I	probably damaging	Het
Col13a1	T	C	10: 61,703,262 (GRCm39)	D440G	possibly damaging	Het
Dclk3	G	A	9: 111,298,231 (GRCm39)	V592M	probably damaging	Het
Ddx31	A	T	2: 28,747,144 (GRCm39)	I208F	probably damaging	Het
Dlat	A	T	9: 50,556,419 (GRCm39)		probably null	Het
Eml4	T	C	17: 83,753,487 (GRCm39)		probably null	Het
Enpp2	T	A	15: 54,710,633 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,244,315 (GRCm39)	S38G	possibly damaging	Het
Gcnt1	G	A	19: 17,307,680 (GRCm39)	T15I	probably benign	Het
Gm21834	T	C	17: 58,049,121 (GRCm39)	T32A	possibly damaging	Het
Golga2	A	G	2: 32,192,945 (GRCm39)	D394G	probably damaging	Het
Gtf3c4	G	T	2: 28,730,181 (GRCm39)		probably null	Het
Igkv4-69	A	G	6: 69,261,253 (GRCm39)		probably benign	Het
Inpp5j	T	C	11: 3,451,150 (GRCm39)	R500G	possibly damaging	Het
Kif5b	A	T	18: 6,226,980 (GRCm39)		probably benign	Het
Klhl36	A	G	8: 120,603,290 (GRCm39)	E515G	probably damaging	Het
Lifr	C	T	15: 7,186,672 (GRCm39)	R59*	probably null	Het
Lrif1	A	T	3: 106,641,714 (GRCm39)	Q10L	possibly damaging	Het
Lrp8	A	G	4: 107,726,295 (GRCm39)	E908G	probably damaging	Het
Lrrc23	A	T	6: 124,747,667 (GRCm39)	D307E	probably benign	Het
Mpv17l	T	C	16: 13,762,583 (GRCm39)	F27L	probably damaging	Het
Mta3	C	T	17: 84,074,016 (GRCm39)	A76V	probably damaging	Het
Muc5ac	T	A	7: 141,345,771 (GRCm39)	Y202*	probably null	Het
Naprt	A	G	15: 75,762,918 (GRCm39)		probably benign	Het
Npr2	T	A	4: 43,650,315 (GRCm39)	V960D	probably damaging	Het
Oca2	A	T	7: 56,073,100 (GRCm39)	Y765F	probably benign	Het
Or2d2	A	T	7: 106,727,939 (GRCm39)	H220Q	probably benign	Het
Plxna2	T	A	1: 194,326,712 (GRCm39)	Y215*	probably null	Het
Prdm16	G	A	4: 154,561,084 (GRCm39)		probably benign	Het
Ptn	A	G	6: 36,721,432 (GRCm39)	S3P	probably benign	Het
Pus10	T	C	11: 23,623,331 (GRCm39)		probably benign	Het
Rad21	A	T	15: 51,831,754 (GRCm39)	D442E	probably benign	Het
Rmdn2	A	G	17: 79,975,384 (GRCm39)	H291R	probably damaging	Het
Rp1	A	G	1: 4,415,863 (GRCm39)	S1750P	probably damaging	Het
Samd4b	A	T	7: 28,107,585 (GRCm39)	I228N	probably benign	Het
Sdr9c7	G	T	10: 127,734,822 (GRCm39)		probably benign	Het
Slc13a2	T	C	11: 78,294,001 (GRCm39)	N254D	probably benign	Het
Slc16a8	T	A	15: 79,136,807 (GRCm39)	I132F	probably damaging	Het
Slc18b1	T	A	10: 23,694,976 (GRCm39)	Y274N	probably benign	Het
Slc45a2	A	T	15: 11,000,903 (GRCm39)	M1L	probably benign	Het
Smc1b	A	G	15: 84,996,874 (GRCm39)		probably benign	Het
Stab2	T	C	10: 86,785,792 (GRCm39)	S617G	probably benign	Het
Stk10	A	G	11: 32,554,190 (GRCm39)	M626V	probably damaging	Het
Synpo2l	T	G	14: 20,711,466 (GRCm39)	I385L	possibly damaging	Het
Tmprss11d	T	C	5: 86,486,671 (GRCm39)	Y73C	probably damaging	Het
Ttc21b	A	G	2: 66,066,726 (GRCm39)	V309A	probably benign	Het
Tubgcp6	A	G	15: 88,987,268 (GRCm39)	I1235T	probably benign	Het
Usp8	A	G	2: 126,567,310 (GRCm39)	I110V	probably benign	Het
Vps13c	G	A	9: 67,880,143 (GRCm39)	G3442S	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Zfp207	T	A	11: 80,286,333 (GRCm39)		probably benign	Het
Zfp748	A	C	13: 67,701,144 (GRCm39)		probably null	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
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
R6220: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'- AGCTTGCCACTGTGAGGAAAGG -3'
(R):5'- CAAAAGCGTGGCCTGAAATGACTC -3'

Sequencing Primer
(F):5'- GCGGGAAGATCTGTGAGGATG -3'
(R):5'- GCCTGAAATGACTCCCTGAG -3'

Posted On

2013-06-11