Mutagenetix > Incidental Mutations

Incidental Mutation 'R1558:Cercam'

170393

Institutional Source

Beutler Lab

Gene Symbol

Cercam

Ensembl Gene

ENSMUSG00000039787

Gene Name

cerebral endothelial cell adhesion molecule

Synonyms

Ceecam1, CerCAM

MMRRC Submission

039597-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1558 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29869164-29882840 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29876239 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 345 (A345T)

Ref Sequence

ENSEMBL: ENSMUSP00000041622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047521] [ENSMUST00000134152] [ENSMUST00000154464]

Predicted Effect

probably benign
Transcript: ENSMUST00000047521
AA Change: A345T

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041622
Gene: ENSMUSG00000039787
AA Change: A345T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_tranf_2_4	37	157	2.6e-15	PFAM
Pfam:Glyco_transf_25	316	500	3.2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134152

SMART Domains

Protein: ENSMUSP00000115902
Gene: ENSMUSG00000039787

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153863

Predicted Effect

probably benign
Transcript: ENSMUST00000154464

SMART Domains

Protein: ENSMUSP00000119476
Gene: ENSMUSG00000039787

Domain	Start	End	E-Value	Type
low complexity region	11	28	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155355

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	A	17: 33,065,705	I708F	probably benign	Het
4933406M09Rik	G	A	1: 134,390,774	G428D	probably damaging	Het
Abca1	T	A	4: 53,092,887	Q299L	probably null	Het
Adamts9	T	G	6: 92,908,711	K399N	possibly damaging	Het
Alox12b	T	C	11: 69,165,885	F369S	probably damaging	Het
Alpk2	A	G	18: 65,350,230	Y236H	probably benign	Het
Ankrd36	T	C	11: 5,635,329	L380P	probably damaging	Het
Atp2a1	C	T	7: 126,452,672	A468T	possibly damaging	Het
Caprin1	A	T	2: 103,775,987	F303I	possibly damaging	Het
Casp7	A	T	19: 56,433,252	R41*	probably null	Het
Ccdc66	T	A	14: 27,486,506	H753L	probably benign	Het
Ccnc	T	C	4: 21,742,671	M166T	probably benign	Het
Cdkl3	T	A	11: 52,032,510	M538K	possibly damaging	Het
Chmp3	T	A	6: 71,560,970	C60*	probably null	Het
Ddx1	C	T	12: 13,239,541	G125S	probably damaging	Het
Defb7	A	G	8: 19,497,551	D24G	probably benign	Het
Dgcr8	A	T	16: 18,259,588	Y653N	probably damaging	Het
Dsc2	T	C	18: 20,050,151	D70G	probably damaging	Het
Erich3	T	G	3: 154,714,068	N266K	probably damaging	Het
Fastk	A	T	5: 24,444,047		probably null	Het
Fat4	A	G	3: 38,888,986	N676S	probably damaging	Het
Fermt1	A	T	2: 132,934,819		probably null	Het
Fmn1	A	G	2: 113,693,118	T1149A	possibly damaging	Het
Foxo3	A	G	10: 42,197,072	V483A	probably damaging	Het
Fpgs	T	C	2: 32,685,840	T364A	possibly damaging	Het
Gm12185	A	G	11: 48,915,435	S310P	probably damaging	Het
Gm15056	A	T	8: 20,901,933		probably benign	Het
Hcn1	T	C	13: 117,975,576	V692A	unknown	Het
Izumo3	A	C	4: 92,146,903	C26G	probably damaging	Het
Kcnf1	T	C	12: 17,175,473	Y249C	probably damaging	Het
Kcnj6	T	C	16: 94,762,499	E380G	possibly damaging	Het
Kdm3b	A	G	18: 34,809,096	T747A	probably damaging	Het
Lrba	G	A	3: 86,351,315	G1370R	probably damaging	Het
Mei1	G	A	15: 82,107,133	R504Q	probably damaging	Het
Mipol1	T	C	12: 57,332,341	I195T	probably damaging	Het
Mum1	G	T	10: 80,232,944	R307S	probably benign	Het
Ncor2	G	A	5: 125,033,546	T1350I	probably damaging	Het
Npy	A	G	6: 49,823,725	E43G	probably damaging	Het
Olfr1152	T	A	2: 87,868,115	N41K	probably damaging	Het
Olfr1507	T	A	14: 52,490,146	I273F	probably benign	Het
Olfr924	T	A	9: 38,848,904	N263K	probably benign	Het
Pcdhb3	T	C	18: 37,301,581	L200P	probably damaging	Het
Pcnt	G	A	10: 76,422,922	H570Y	possibly damaging	Het
Pkd1l2	A	C	8: 117,082,252	D66E	possibly damaging	Het
Plekhg4	A	G	8: 105,381,835	D1170G	possibly damaging	Het
Poln	T	A	5: 34,032,799	H672L	probably benign	Het
Pqlc2	A	T	4: 139,300,080		probably benign	Het
Ptprq	T	C	10: 107,644,043	Y1122C	probably damaging	Het
Ptrhd1	A	G	12: 4,236,505	Y132C	probably damaging	Het
Riok1	G	T	13: 38,050,855	R300L	probably damaging	Het
Sbf2	G	T	7: 110,428,346	T481K	probably damaging	Het
Sidt2	A	T	9: 45,951,800	M11K	probably damaging	Het
Syne1	G	A	10: 5,349,280	R992*	probably null	Het
Tmem2	T	A	19: 21,797,982	Y196*	probably null	Het
Tmem8b	C	A	4: 43,681,134	R384S	possibly damaging	Het
Trim28	T	C	7: 13,027,834	Y243H	probably damaging	Het
Trpm6	T	C	19: 18,786,828	M266T	probably benign	Het
Tsg101	A	T	7: 46,889,689	S368T	probably damaging	Het
Ttc28	G	A	5: 111,225,677	S962N	probably damaging	Het
Ttc6	G	A	12: 57,686,346	V1092I	probably benign	Het
Vps13b	C	T	15: 35,534,319	T927I	probably damaging	Het
Zfr	C	T	15: 12,140,644	T259I	unknown	Het

Other mutations in Cercam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01885:Cercam	APN	2	29881003	missense	probably damaging	1.00
IGL02619:Cercam	APN	2	29880674	missense	probably benign	0.05
IGL03088:Cercam	APN	2	29881687	splice site	probably benign
I1329:Cercam	UTSW	2	29871085	missense	probably damaging	1.00
P0042:Cercam	UTSW	2	29881083	missense	probably damaging	1.00
R0086:Cercam	UTSW	2	29871064	missense	probably damaging	1.00
R0829:Cercam	UTSW	2	29871067	missense	probably damaging	0.98
R1442:Cercam	UTSW	2	29880640	missense	probably benign
R1997:Cercam	UTSW	2	29872923	missense	probably benign	0.11
R4678:Cercam	UTSW	2	29869677	missense	probably damaging	1.00
R4889:Cercam	UTSW	2	29881833	missense	probably damaging	0.96
R4891:Cercam	UTSW	2	29869271	unclassified	probably benign
R4967:Cercam	UTSW	2	29871021	critical splice acceptor site	probably null
R5052:Cercam	UTSW	2	29875627	missense	probably damaging	1.00
R5541:Cercam	UTSW	2	29875629	missense	probably benign
R5650:Cercam	UTSW	2	29881815	missense	probably damaging	1.00
R7072:Cercam	UTSW	2	29881924	missense	probably benign	0.00
R7422:Cercam	UTSW	2	29872880	missense	possibly damaging	0.81
R7585:Cercam	UTSW	2	29881731	missense	probably damaging	1.00
R7725:Cercam	UTSW	2	29872562	critical splice acceptor site	probably null
R7730:Cercam	UTSW	2	29872562	critical splice acceptor site	probably null
R7747:Cercam	UTSW	2	29871286	missense	probably benign	0.02
R8504:Cercam	UTSW	2	29881817	missense	possibly damaging	0.86
RF016:Cercam	UTSW	2	29869305	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CATGCTGGCCTCAGCTCATGTATC -3'
(R):5'- GCTAGACTTTACCCATGTTCCACGC -3'

Sequencing Primer
(F):5'- TGTATCTCGGCCCCCAAAG -3'
(R):5'- GGACAGTTTCCCAGAGTTTATACAG -3'

Posted On

2014-04-13