Mutagenetix > Incidental Mutation

Incidental Mutation 'R7807:Ccbe1'

600899

Institutional Source

Beutler Lab

Gene Symbol

Ccbe1

Ensembl Gene

ENSMUSG00000046318

Gene Name

collagen and calcium binding EGF domains 1

Synonyms

9430093N24Rik, 4933426F18Rik

MMRRC Submission

045862-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66189926-66424909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66199828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 298 (H298L)

Ref Sequence

ENSEMBL: ENSMUSP00000117636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061103] [ENSMUST00000130300]

AlphaFold

Q3MI99

Predicted Effect

probably damaging
Transcript: ENSMUST00000061103
AA Change: H298L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052011
Gene: ENSMUSG00000046318
AA Change: H298L

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
EGF	93	134	7.95e0	SMART
EGF_CA	135	176	1.69e-12	SMART
Pfam:Collagen	246	295	7.7e-9	PFAM
Pfam:Collagen	299	337	1.2e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000130300
AA Change: H298L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117636
Gene: ENSMUSG00000046318
AA Change: H298L

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
EGF	93	134	7.95e0	SMART
EGF_CA	135	176	1.69e-12	SMART
Pfam:Collagen	246	295	7.4e-9	PFAM
low complexity region	302	317	N/A	INTRINSIC
low complexity region	325	336	N/A	INTRINSIC

Meta Mutation Damage Score

0.1578

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality associated with edema and absence of lymphatic vessels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	C	A	9: 21,447,276 (GRCm39)	T146K	probably benign	Het
Alms1	T	A	6: 85,599,958 (GRCm39)	S1595T	possibly damaging	Het
Ankrd44	A	T	1: 54,831,635 (GRCm39)	I56N	probably damaging	Het
Anln	C	A	9: 22,272,176 (GRCm39)	V648F	probably damaging	Het
Arhgap29	A	G	3: 121,807,981 (GRCm39)	D1053G	probably benign	Het
Baalc	T	C	15: 38,797,412 (GRCm39)	S68P	probably benign	Het
Begain	T	C	12: 109,004,856 (GRCm39)	D52G	probably damaging	Het
Blmh	A	G	11: 76,837,040 (GRCm39)	I41V	probably benign	Het
Bpifc	T	A	10: 85,812,114 (GRCm39)	I365F	possibly damaging	Het
C2	G	T	17: 35,095,347 (GRCm39)	S199R	possibly damaging	Het
Ccdc112	T	A	18: 46,423,826 (GRCm39)	K304I	probably damaging	Het
Ccdc15	T	C	9: 37,226,678 (GRCm39)	E432G	probably benign	Het
Cdh13	T	A	8: 119,010,594 (GRCm39)	M1K	probably null	Het
Cipc	T	C	12: 87,008,899 (GRCm39)	S253P	possibly damaging	Het
Clcn1	A	G	6: 42,287,282 (GRCm39)		probably null	Het
Clock	A	T	5: 76,390,982 (GRCm39)	N273K	probably benign	Het
Cyp19a1	T	C	9: 54,074,126 (GRCm39)	D476G	probably benign	Het
Dnaaf9	T	C	2: 130,552,785 (GRCm39)	K1092E	probably damaging	Het
Dnah7b	A	G	1: 46,253,527 (GRCm39)	I1811V	probably benign	Het
Fat1	C	A	8: 45,495,010 (GRCm39)	T4091K	probably damaging	Het
Gm10340	T	A	14: 14,826,724 (GRCm39)	N64K	probably damaging	Het
Hectd1	G	A	12: 51,792,171 (GRCm39)	R2523C	probably damaging	Het
Hgf	A	G	5: 16,782,009 (GRCm39)	H244R	probably damaging	Het
Hgs	G	T	11: 120,370,760 (GRCm39)	A567S	probably damaging	Het
Igdcc4	T	C	9: 65,041,077 (GRCm39)	V1036A	probably benign	Het
Keg1	G	A	19: 12,691,998 (GRCm39)		probably null	Het
Klhl8	A	T	5: 104,023,932 (GRCm39)	L156Q	probably damaging	Het
Lmln	T	C	16: 32,927,501 (GRCm39)	Y521H	probably benign	Het
Lrrc7	A	G	3: 157,866,124 (GRCm39)	S1206P	probably damaging	Het
Mad1l1	T	A	5: 140,074,541 (GRCm39)	I550F	probably benign	Het
Marf1	C	T	16: 13,971,753 (GRCm39)	W28*	probably null	Het
Mfsd11	T	G	11: 116,754,733 (GRCm39)	S215A	probably benign	Het
Mpped2	C	A	2: 106,575,085 (GRCm39)	H57N	possibly damaging	Het
Mslnl	A	G	17: 25,965,751 (GRCm39)	M542V	probably benign	Het
Myh6	G	T	14: 55,179,897 (GRCm39)	H1903Q	probably damaging	Het
Neo1	T	C	9: 58,897,777 (GRCm39)	T60A	probably benign	Het
Npm2	T	A	14: 70,889,947 (GRCm39)		probably null	Het
Or5b123	C	A	19: 13,597,285 (GRCm39)	T210K	probably damaging	Het
Or5d20-ps1	T	C	2: 87,931,909 (GRCm39)	S141G	probably benign	Het
Or7a39	T	A	10: 78,715,043 (GRCm39)	S12R	probably benign	Het
Pax9	A	T	12: 56,743,850 (GRCm39)	I166F	possibly damaging	Het
Pcsk9	A	G	4: 106,321,092 (GRCm39)	S6P	possibly damaging	Het
Pikfyve	A	G	1: 65,309,101 (GRCm39)	Y1893C	probably damaging	Het
Pirb	T	C	7: 3,722,864 (GRCm39)	T43A	possibly damaging	Het
Pou3f1	A	G	4: 124,552,074 (GRCm39)	D192G	possibly damaging	Het
Pus3	C	G	9: 35,478,021 (GRCm39)	R418G	probably damaging	Het
Rexo1	C	T	10: 80,385,970 (GRCm39)	V363I	probably benign	Het
Sdcbp	A	G	4: 6,393,688 (GRCm39)	T269A	probably damaging	Het
Sele	T	C	1: 163,881,462 (GRCm39)	V523A	probably benign	Het
Serpinb8	T	A	1: 107,532,457 (GRCm39)	M183K	probably damaging	Het
Sh2d4a	T	G	8: 68,735,033 (GRCm39)	S51A	probably benign	Het
Siglec15	A	G	18: 78,090,696 (GRCm39)	S201P	probably damaging	Het
Slc10a5	C	T	3: 10,400,529 (GRCm39)	V44I	probably benign	Het
Slc16a13	A	G	11: 70,111,388 (GRCm39)	V39A	probably damaging	Het
Slc25a13	G	A	6: 6,117,164 (GRCm39)	R184W	probably damaging	Het
Slc35f5	T	A	1: 125,512,278 (GRCm39)	D359E	probably damaging	Het
Slc3a1	A	G	17: 85,371,371 (GRCm39)	E641G	probably benign	Het
Slf1	T	C	13: 77,194,823 (GRCm39)	D834G	probably damaging	Het
Spata31f1e	A	C	4: 42,793,885 (GRCm39)	H82Q	probably benign	Het
Stim1	T	C	7: 102,076,348 (GRCm39)	I433T	probably damaging	Het
Stra6	T	A	9: 58,057,444 (GRCm39)	I418K	probably damaging	Het
Tanc2	A	G	11: 105,758,480 (GRCm39)	N747S	probably benign	Het
Tet2	T	C	3: 133,192,302 (GRCm39)	T711A	possibly damaging	Het
Trpm6	T	C	19: 18,807,220 (GRCm39)	I988T	probably benign	Het
Ttc41	T	A	10: 86,612,495 (GRCm39)	I1256N	probably benign	Het
Uba2	T	C	7: 33,862,638 (GRCm39)	D100G	possibly damaging	Het
Vmn1r43	A	G	6: 89,847,219 (GRCm39)	I89T	probably benign	Het
Vmn2r58	T	A	7: 41,521,910 (GRCm39)	Y62F	probably benign	Het
Ylpm1	C	T	12: 85,060,855 (GRCm39)	Q428*	probably null	Het
Zcrb1	T	C	15: 93,289,002 (GRCm39)	D88G	probably damaging	Het
Zmym1	A	C	4: 126,941,667 (GRCm39)	I907S	probably damaging	Het

Other mutations in Ccbe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01811:Ccbe1	APN	18	66,199,798 (GRCm39)	critical splice donor site	probably null
R0032:Ccbe1	UTSW	18	66,424,723 (GRCm39)	missense	possibly damaging	0.81
R0575:Ccbe1	UTSW	18	66,227,066 (GRCm39)	splice site	probably benign
R0722:Ccbe1	UTSW	18	66,217,877 (GRCm39)	missense	probably damaging	1.00
R3122:Ccbe1	UTSW	18	66,199,900 (GRCm39)	missense	probably benign	0.02
R4642:Ccbe1	UTSW	18	66,424,654 (GRCm39)	intron	probably benign
R5218:Ccbe1	UTSW	18	66,216,229 (GRCm39)	missense	probably damaging	1.00
R5334:Ccbe1	UTSW	18	66,216,316 (GRCm39)	missense	probably damaging	0.99
R5369:Ccbe1	UTSW	18	66,194,485 (GRCm39)	missense	probably benign	0.00
R5806:Ccbe1	UTSW	18	66,209,426 (GRCm39)	nonsense	probably null
R5865:Ccbe1	UTSW	18	66,216,222 (GRCm39)	missense	possibly damaging	0.48
R6752:Ccbe1	UTSW	18	66,209,378 (GRCm39)	critical splice donor site	probably null
R6763:Ccbe1	UTSW	18	66,194,459 (GRCm39)	missense	possibly damaging	0.65
R7226:Ccbe1	UTSW	18	66,216,199 (GRCm39)	missense	probably damaging	1.00
R7878:Ccbe1	UTSW	18	66,209,462 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACAATGGGTAGAAACAGCCC -3'
(R):5'- CCAGTGATTCCTGGACTCTG -3'

Sequencing Primer
(F):5'- ATAAGACTTACCTTGGAGCCGTGTC -3'
(R):5'- CAGTGATTCCTGGACTCTGTAGTATG -3'

Posted On

2019-11-26