Mutagenetix > Incidental Mutations

Incidental Mutation 'R1175:Cntnap5c'

100011

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5c

Ensembl Gene

ENSMUSG00000038048

Gene Name

contactin associated protein-like 5C

Synonyms

MMRRC Submission

039248-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1175 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57769570-58410355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58364246 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1143 (T1143K)

Ref Sequence

ENSEMBL: ENSMUSP00000075416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076038]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076038
AA Change: T1143K

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: T1143K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
FA58C	29	174	1.26e-10	SMART
LamG	201	338	1.57e-29	SMART
LamG	387	521	3e-26	SMART
EGF	549	583	1.88e-1	SMART
Blast:FBG	586	769	8e-83	BLAST
LamG	811	938	4.37e-28	SMART
EGF	959	995	6.55e-1	SMART
LamG	1036	1172	2.08e-11	SMART
transmembrane domain	1240	1262	N/A	INTRINSIC

Meta Mutation Damage Score

0.1314

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 88.0%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	T	A	16: 17,117,582	H214L	probably benign	Het
3110043O21Rik	C	A	4: 35,218,630	E76D	probably damaging	Het
4921507P07Rik	T	A	6: 50,589,141	K118M	probably damaging	Het
A430078G23Rik	T	A	8: 3,389,023		probably benign	Het
Abca17	T	C	17: 24,289,351	E1070G	possibly damaging	Het
Accsl	A	T	2: 93,866,244		probably benign	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Anapc1	C	A	2: 128,680,188	C150F	probably damaging	Het
Borcs5	T	A	6: 134,710,133	N150K	probably damaging	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Col7a1	A	C	9: 108,955,334	T137P	unknown	Het
Defb8	C	T	8: 19,445,894	G50E	probably damaging	Het
Dimt1	T	A	13: 106,949,685		probably benign	Het
Dnajb11	T	A	16: 22,870,673	D281E	probably damaging	Het
Eci2	G	T	13: 34,993,104	N24K	probably damaging	Het
Fbn1	A	T	2: 125,394,687	C358S	probably benign	Het
Fbxl13	A	T	5: 21,620,604		probably benign	Het
Fbxw11	T	C	11: 32,711,922	C121R	probably damaging	Het
Fsd2	T	C	7: 81,559,770	D108G	probably benign	Het
Gab1	C	A	8: 80,784,842	R458L	probably damaging	Het
Ghrhr	T	A	6: 55,388,269	L416*	probably null	Het
Glipr1l2	C	A	10: 112,083,466	L31I	possibly damaging	Het
Gm1818	A	G	12: 48,556,199		noncoding transcript	Het
Gm19965	T	A	1: 116,820,820		probably benign	Het
Gpr149	A	G	3: 62,604,467	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,225,713	I131T	probably damaging	Het
Itpkc	T	C	7: 27,227,770	I240V	probably benign	Het
Jakmip3	A	G	7: 139,027,786	D552G	probably damaging	Het
Kank4	T	C	4: 98,765,569	Y874C	probably damaging	Het
Kdm3a	T	C	6: 71,600,027	E768G	possibly damaging	Het
Klf6	A	G	13: 5,861,712	D25G	probably benign	Het
Lamc1	T	C	1: 153,247,231		probably benign	Het
Laptm4a	T	C	12: 8,936,716	V258A	probably damaging	Het
Map3k19	A	G	1: 127,823,880	V578A	probably benign	Het
Mast1	T	C	8: 84,925,327	E342G	probably benign	Het
Mgat5b	T	C	11: 116,977,796	L515P	probably damaging	Het
Mink1	A	G	11: 70,611,340	D985G	probably benign	Het
Mphosph9	A	G	5: 124,315,676	V191A	possibly damaging	Het
Muc6	C	T	7: 141,648,101	G708S	probably damaging	Het
Papd5	T	A	8: 88,252,007	F445L	probably damaging	Het
Pcnt	A	T	10: 76,393,044		probably null	Het
Psmd8	A	T	7: 29,176,173	Y174N	probably damaging	Het
Ptgdr2	C	A	19: 10,940,928	R270S	possibly damaging	Het
Rasal2	A	G	1: 157,147,648	M1172T	probably damaging	Het
Rif1	A	G	2: 52,107,628		probably benign	Het
Rnf123	C	T	9: 108,077,373	R48H	probably benign	Het
Rsrc1	T	C	3: 67,356,218		probably benign	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Serpinb9d	C	T	13: 33,200,625	P195L	probably benign	Het
Sis	A	G	3: 72,958,104		probably benign	Het
Skint4	T	C	4: 112,124,596	M246T	probably benign	Het
Snrnp200	C	A	2: 127,229,077	R1093S	probably damaging	Het
Sp100	A	G	1: 85,701,420	N471D	possibly damaging	Het
Ssxb8	T	G	X: 8,689,823	H88P	probably damaging	Het
Sufu	T	C	19: 46,401,264		probably null	Het
Svs1	C	A	6: 48,990,239	P707H	probably damaging	Het
Synpo2l	G	A	14: 20,668,167	T10I	possibly damaging	Het
Tdo2	A	T	3: 81,974,376	S40R	probably damaging	Het
Terb1	G	A	8: 104,484,306	T363I	probably benign	Het
Timd4	C	T	11: 46,817,671	P175S	probably damaging	Het
Tlr3	C	A	8: 45,397,134	V833L	probably damaging	Het
Tpst2	T	A	5: 112,308,045	M150K	probably damaging	Het
Trim67	T	A	8: 124,817,035	V378E	probably damaging	Het
Tyrp1	C	T	4: 80,844,868	Q331*	probably null	Het
Ubap2l	A	T	3: 90,023,500	S413T	probably benign	Het
Uimc1	G	A	13: 55,028,602	T701I	possibly damaging	Het
Vangl2	G	T	1: 172,004,786	T501N	probably damaging	Het
Vmn1r60	A	G	7: 5,544,622	S160P	probably benign	Het
Vmn2r66	G	T	7: 85,005,591	D503E	probably benign	Het
Vmn2r72	T	A	7: 85,751,944	E89V	probably damaging	Het
Zfp457	G	A	13: 67,293,684	P180S	probably damaging	Het

Other mutations in Cntnap5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Cntnap5c	APN	17	58162277	missense	probably benign	0.00
IGL00543:Cntnap5c	APN	17	58294350	missense	probably benign
IGL00679:Cntnap5c	APN	17	58055678	missense	probably damaging	0.98
IGL00942:Cntnap5c	APN	17	57769598	missense	probably benign	0.03
IGL01352:Cntnap5c	APN	17	58293901	missense	probably benign	0.00
IGL01822:Cntnap5c	APN	17	58055705	missense	probably damaging	0.99
IGL01864:Cntnap5c	APN	17	58410242	missense	probably benign
IGL01922:Cntnap5c	APN	17	58330119	missense	possibly damaging	0.95
IGL02111:Cntnap5c	APN	17	58102108	missense	probably damaging	1.00
IGL02112:Cntnap5c	APN	17	58313858	missense	probably benign	0.00
IGL02259:Cntnap5c	APN	17	58034862	missense	probably damaging	0.98
IGL02270:Cntnap5c	APN	17	58034853	missense	probably benign	0.08
IGL02312:Cntnap5c	APN	17	58138699	missense	probably benign	0.09
IGL02456:Cntnap5c	APN	17	58407744	splice site	probably benign
IGL02755:Cntnap5c	APN	17	58364194	missense	probably benign	0.02
IGL02955:Cntnap5c	APN	17	57892102	splice site	probably benign
IGL03001:Cntnap5c	APN	17	58055639	missense	probably damaging	1.00
IGL03012:Cntnap5c	APN	17	58359234	missense	probably benign	0.01
IGL03243:Cntnap5c	APN	17	58102176	missense	probably benign	0.01
IGL03375:Cntnap5c	APN	17	58162205	missense	possibly damaging	0.94
IGL02802:Cntnap5c	UTSW	17	58305684	missense	probably benign	0.04
LCD18:Cntnap5c	UTSW	17	58162160	intron	probably benign
R0003:Cntnap5c	UTSW	17	58199017	missense	probably benign
R0041:Cntnap5c	UTSW	17	57876469	missense	probably benign	0.00
R0041:Cntnap5c	UTSW	17	57876469	missense	probably benign	0.00
R0046:Cntnap5c	UTSW	17	58359300	missense	probably benign
R0046:Cntnap5c	UTSW	17	58359300	missense	probably benign
R0179:Cntnap5c	UTSW	17	57769625	missense	probably benign	0.19
R0244:Cntnap5c	UTSW	17	58102168	missense	probably damaging	1.00
R0445:Cntnap5c	UTSW	17	58104743	missense	probably benign	0.01
R0626:Cntnap5c	UTSW	17	58042427	missense	probably benign	0.29
R0675:Cntnap5c	UTSW	17	58034995	missense	probably damaging	1.00
R0681:Cntnap5c	UTSW	17	58305555	missense	possibly damaging	0.91
R0699:Cntnap5c	UTSW	17	58042498	missense	probably damaging	1.00
R0927:Cntnap5c	UTSW	17	58042558	missense	possibly damaging	0.78
R1081:Cntnap5c	UTSW	17	58305525	missense	possibly damaging	0.90
R1132:Cntnap5c	UTSW	17	58294356	missense	probably damaging	1.00
R1640:Cntnap5c	UTSW	17	58395294	missense	probably benign	0.01
R1664:Cntnap5c	UTSW	17	58293990	missense	probably benign	0.00
R1758:Cntnap5c	UTSW	17	58042550	missense	probably damaging	1.00
R1785:Cntnap5c	UTSW	17	58162291	missense	probably benign	0.00
R1789:Cntnap5c	UTSW	17	58013921	missense	probably damaging	1.00
R1968:Cntnap5c	UTSW	17	58359296	missense	probably damaging	1.00
R2041:Cntnap5c	UTSW	17	58104770	critical splice donor site	probably null
R2041:Cntnap5c	UTSW	17	58198989	missense	probably benign	0.02
R2073:Cntnap5c	UTSW	17	58305552	missense	possibly damaging	0.58
R2093:Cntnap5c	UTSW	17	58199000	missense	probably benign	0.00
R2134:Cntnap5c	UTSW	17	58407722	missense	probably damaging	1.00
R2153:Cntnap5c	UTSW	17	58055671	missense	possibly damaging	0.90
R2176:Cntnap5c	UTSW	17	58013946	missense	probably benign	0.04
R2256:Cntnap5c	UTSW	17	58330315	missense	probably benign	0.00
R2847:Cntnap5c	UTSW	17	57876392	missense	probably damaging	0.99
R2848:Cntnap5c	UTSW	17	57876392	missense	probably damaging	0.99
R2850:Cntnap5c	UTSW	17	58410348	utr 3 prime	probably benign
R3008:Cntnap5c	UTSW	17	58359209	missense	probably damaging	1.00
R3714:Cntnap5c	UTSW	17	57892067	nonsense	probably null
R3720:Cntnap5c	UTSW	17	58330202	missense	probably benign
R3755:Cntnap5c	UTSW	17	58104599	missense	possibly damaging	0.82
R4001:Cntnap5c	UTSW	17	58407740	critical splice donor site	probably null
R4619:Cntnap5c	UTSW	17	58410268	missense	probably benign
R5146:Cntnap5c	UTSW	17	58013847	missense	probably damaging	0.96
R5309:Cntnap5c	UTSW	17	58359254	missense	probably benign	0.05
R5312:Cntnap5c	UTSW	17	58359254	missense	probably benign	0.05
R5722:Cntnap5c	UTSW	17	58313857	missense	probably benign	0.01
R5974:Cntnap5c	UTSW	17	57876485	missense	probably benign	0.00
R6017:Cntnap5c	UTSW	17	58104698	missense	probably benign	0.41
R6059:Cntnap5c	UTSW	17	58313712	missense	probably damaging	0.99
R6152:Cntnap5c	UTSW	17	58286886	missense	possibly damaging	0.65
R6182:Cntnap5c	UTSW	17	57876395	missense	probably benign	0.00
R6298:Cntnap5c	UTSW	17	58104752	missense	probably damaging	1.00
R6301:Cntnap5c	UTSW	17	57892037	missense	probably benign	0.01
R6514:Cntnap5c	UTSW	17	58330170	missense	probably damaging	0.96
R6583:Cntnap5c	UTSW	17	58330277	missense	probably damaging	1.00
R6688:Cntnap5c	UTSW	17	58293904	missense	possibly damaging	0.71
R6781:Cntnap5c	UTSW	17	58138653	nonsense	probably null
R6866:Cntnap5c	UTSW	17	58092294	missense	probably benign
R6906:Cntnap5c	UTSW	17	58395307	missense	probably benign	0.18
R6911:Cntnap5c	UTSW	17	57892014	missense	probably damaging	1.00
R6919:Cntnap5c	UTSW	17	58293953	missense	probably benign	0.02
R6923:Cntnap5c	UTSW	17	58092350	missense	possibly damaging	0.96
R6925:Cntnap5c	UTSW	17	58395266	missense	probably benign	0.39
R6982:Cntnap5c	UTSW	17	58092252	missense	possibly damaging	0.77
R7144:Cntnap5c	UTSW	17	58286888	missense	probably benign
R7422:Cntnap5c	UTSW	17	58410231	nonsense	probably null
R7797:Cntnap5c	UTSW	17	58359275	missense	probably benign	0.11
R7830:Cntnap5c	UTSW	17	58162250	missense	probably damaging	1.00
RF010:Cntnap5c	UTSW	17	58286795	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15