Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02937:Cc2d1b'

364379

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cc2d1b

Ensembl Gene

ENSMUSG00000028582

Gene Name

coiled-coil and C2 domain containing 1B

Synonyms

Freud2, A830039B04Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.631) question?

Stock #

IGL02937

Quality Score

Status

Chromosome

Chromosomal Location

108477137-108491320 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108489091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 796 (E796G)

Ref Sequence

ENSEMBL: ENSMUSP00000030320 (fasta)

Gene Model

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

AlphaFold

Q8BRN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030320
AA Change: E796G

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

SMART Domains

Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582
AA Change: E796G

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

unknown
Transcript: ENSMUST00000134844
AA Change: E717G

SMART Domains

Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582
AA Change: E717G

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: ENSMUST00000176846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176877

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,206,049 (GRCm39)	C21Y	probably damaging	Het
4933427D06Rik	T	C	6: 89,085,127 (GRCm39)		noncoding transcript	Het
5730480H06Rik	A	G	5: 48,536,783 (GRCm39)	I160V	probably benign	Het
Arhgap29	G	A	3: 121,767,698 (GRCm39)	E47K	probably damaging	Het
Arhgef12	T	A	9: 42,927,216 (GRCm39)	S303C	probably damaging	Het
Bap1	A	G	14: 30,980,284 (GRCm39)	N644S	probably benign	Het
Cfh	C	A	1: 140,033,180 (GRCm39)	R788L	probably benign	Het
Cldn1	A	G	16: 26,179,623 (GRCm39)	F148S	probably damaging	Het
Cryzl1	A	G	16: 91,487,619 (GRCm39)	M292T	possibly damaging	Het
Cyp11b1	T	C	15: 74,708,408 (GRCm39)	R385G	possibly damaging	Het
Cyp4f37	T	C	17: 32,844,163 (GRCm39)	L89P	probably benign	Het
Dach1	A	G	14: 98,153,231 (GRCm39)		probably null	Het
Dhtkd1	A	G	2: 5,922,716 (GRCm39)	I481T	possibly damaging	Het
Dlx5	A	T	6: 6,881,755 (GRCm39)	D44E	probably damaging	Het
Dsg1a	T	A	18: 20,464,591 (GRCm39)	I362N	possibly damaging	Het
Ecm2	T	A	13: 49,671,952 (GRCm39)	I151N	probably damaging	Het
Far1	T	A	7: 113,139,855 (GRCm39)	I101N	probably damaging	Het
Gm21985	T	C	2: 112,172,207 (GRCm39)	S384P	probably benign	Het
Gnb5	T	C	9: 75,247,471 (GRCm39)	Y247H	probably damaging	Het
Golgb1	A	G	16: 36,736,572 (GRCm39)	K1940E	probably damaging	Het
Gprc5b	A	G	7: 118,583,017 (GRCm39)	V284A	probably benign	Het
Idh2	T	C	7: 79,748,661 (GRCm39)	Y179C	probably damaging	Het
Kalrn	G	A	16: 34,040,500 (GRCm39)	Q737*	probably null	Het
Kcnj13	T	C	1: 87,314,175 (GRCm39)	D349G	probably damaging	Het
Lgsn	A	T	1: 31,243,318 (GRCm39)	T467S	possibly damaging	Het
Map9	T	A	3: 82,270,819 (GRCm39)	S128T	possibly damaging	Het
Mroh5	A	G	15: 73,661,827 (GRCm39)	C455R	probably damaging	Het
Nes	A	G	3: 87,887,186 (GRCm39)	H1771R	probably benign	Het
Nkain2	T	C	10: 32,205,840 (GRCm39)	Y65C	probably damaging	Het
Or51a43	T	A	7: 103,718,056 (GRCm39)	M61L	probably damaging	Het
Or51b6b	A	T	7: 103,310,112 (GRCm39)	V115D	probably damaging	Het
Or6aa1	T	C	7: 86,043,798 (GRCm39)	K303E	possibly damaging	Het
Pabpc4l	A	C	3: 46,400,725 (GRCm39)	D306E	probably benign	Het
Parp12	A	T	6: 39,079,515 (GRCm39)	Y332N	probably damaging	Het
Parvb	A	T	15: 84,193,154 (GRCm39)	K316M	probably damaging	Het
Pde8a	T	A	7: 80,945,519 (GRCm39)		probably benign	Het
Polq	A	G	16: 36,833,471 (GRCm39)	T55A	probably benign	Het
Ppp2r5b	T	A	19: 6,281,016 (GRCm39)	K271M	probably damaging	Het
Ralgapb	A	G	2: 158,334,936 (GRCm39)		probably null	Het
Rigi	C	T	4: 40,229,661 (GRCm39)	C86Y	probably benign	Het
Skap2	T	C	6: 51,886,351 (GRCm39)	N175D	probably benign	Het
Slc44a3	A	G	3: 121,303,970 (GRCm39)		probably benign	Het
Smurf2	G	A	11: 106,736,873 (GRCm39)	H318Y	probably damaging	Het
Tbc1d23	T	C	16: 57,004,778 (GRCm39)	T460A	possibly damaging	Het
Tcerg1	T	C	18: 42,657,414 (GRCm39)	S299P	unknown	Het
Tll1	A	C	8: 64,658,319 (GRCm39)	Y33*	probably null	Het
Tmem59	A	T	4: 107,054,782 (GRCm39)	T196S	probably damaging	Het
Ttll4	C	A	1: 74,718,662 (GRCm39)	A171D	possibly damaging	Het
Ttn	T	C	2: 76,641,513 (GRCm39)	T13528A	possibly damaging	Het
Ttn	A	G	2: 76,717,621 (GRCm39)		probably benign	Het
Xpc	C	A	6: 91,477,119 (GRCm39)	G327W	probably damaging	Het
Zbtb7a	A	G	10: 80,980,132 (GRCm39)	S109G	probably benign	Het
Zfyve26	T	C	12: 79,285,794 (GRCm39)	M2328V	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
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
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

Posted On

2015-12-18