Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Cntnap5c'

18533

Institutional Source

Beutler Lab

Gene Symbol

Cntnap5c

Ensembl Gene

ENSMUSG00000038048

Gene Name

contactin associated protein-like 5C

Synonyms

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0046 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58076565-58717350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 58666295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1108 (D1108E)

Ref Sequence

ENSEMBL: ENSMUSP00000075416 (fasta)

Gene Model

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

AlphaFold

Q0V8T7

Predicted Effect

probably benign
Transcript: ENSMUST00000076038
AA Change: D1108E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075416
Gene: ENSMUSG00000038048
AA Change: D1108E

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

0.0898

Coding Region Coverage

1x: 89.2%
3x: 86.2%
10x: 78.3%
20x: 64.0%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877 (GRCm39)	K135*	probably null	Het
Adamts16	A	G	13: 70,911,579 (GRCm39)	S871P	probably benign	Het
Adcy10	A	T	1: 165,367,403 (GRCm39)	I558F	probably damaging	Het
Adsl	T	G	15: 80,846,989 (GRCm39)		probably null	Het
Aldob	T	C	4: 49,543,842 (GRCm39)	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247 (GRCm39)	E46G	probably damaging	Het
Atp1a4	A	T	1: 172,067,664 (GRCm39)	L533Q	probably benign	Het
Auts2	T	C	5: 131,799,624 (GRCm39)		noncoding transcript	Het
B3gnt3	T	C	8: 72,145,567 (GRCm39)	Y267C	probably damaging	Het
Ccdc39	A	G	3: 33,898,301 (GRCm39)	F15L	possibly damaging	Het
Col14a1	G	A	15: 55,272,359 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,251,280 (GRCm39)	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,609,256 (GRCm39)		probably benign	Het
Cpt2	A	G	4: 107,761,559 (GRCm39)		probably null	Het
Crebrf	T	A	17: 26,982,308 (GRCm39)	L565M	probably damaging	Het
Dmxl1	T	A	18: 50,011,149 (GRCm39)	V1102E	probably benign	Het
Dock4	G	A	12: 40,787,359 (GRCm39)		probably benign	Het
Dpp3	G	T	19: 4,964,671 (GRCm39)	N545K	probably damaging	Het
Elmo2	T	A	2: 165,140,646 (GRCm39)	N275I	probably damaging	Het
Farp1	A	G	14: 121,492,925 (GRCm39)	K509R	probably benign	Het
Flg	T	A	3: 93,185,028 (GRCm39)		probably benign	Het
Gas2l2	A	T	11: 83,312,736 (GRCm39)	W859R	probably damaging	Het
Gatm	T	C	2: 122,431,225 (GRCm39)	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998 (GRCm39)	I27F	probably damaging	Het
Gm19410	A	G	8: 36,269,799 (GRCm39)	E1148G	probably benign	Het
Haus5	C	T	7: 30,353,605 (GRCm39)	V591I	probably benign	Het
Kcnab3	G	A	11: 69,221,053 (GRCm39)		probably null	Het
Limk1	T	C	5: 134,701,615 (GRCm39)	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,466,192 (GRCm39)	Y100*	probably null	Het
Ly75	A	T	2: 60,169,801 (GRCm39)		probably benign	Het
Mamstr	T	G	7: 45,291,194 (GRCm39)		probably benign	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Marf1	G	A	16: 13,929,591 (GRCm39)	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,686,817 (GRCm39)	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,401,417 (GRCm39)	N881I	probably damaging	Het
Nox3	T	C	17: 3,733,236 (GRCm39)	Y225C	probably benign	Het
Or4c109	C	T	2: 88,817,693 (GRCm39)	M284I	probably benign	Het
Or4c35	C	T	2: 89,808,851 (GRCm39)	T243I	probably damaging	Het
Pclo	C	T	5: 14,590,493 (GRCm39)	T931M	unknown	Het
Pfas	G	T	11: 68,881,293 (GRCm39)	R1025S	probably benign	Het
Prg4	T	C	1: 150,331,837 (GRCm39)	T279A	possibly damaging	Het
Psma1	A	T	7: 113,866,440 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,643,149 (GRCm39)	L550P	probably damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,376,215 (GRCm39)	H195R	probably damaging	Het
Rnf17	T	C	14: 56,708,830 (GRCm39)	L750P	probably damaging	Het
Rtcb	T	C	10: 85,793,520 (GRCm39)	N18D	probably benign	Het
Seh1l	T	C	18: 67,925,086 (GRCm39)		probably null	Het
Sptbn2	T	C	19: 4,795,405 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,281,285 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taok3	C	T	5: 117,410,294 (GRCm39)	Q829*	probably null	Het
Tsbp1	T	C	17: 34,679,095 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,781,886 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,091,940 (GRCm39)	E1756G	probably damaging	Het
Usp35	A	T	7: 96,962,804 (GRCm39)		probably null	Het
Zbtb40	A	G	4: 136,714,589 (GRCm39)	C1067R	probably damaging	Het

Other mutations in Cntnap5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Cntnap5c	APN	17	58,469,272 (GRCm39)	missense	probably benign	0.00
IGL00543:Cntnap5c	APN	17	58,601,345 (GRCm39)	missense	probably benign
IGL00679:Cntnap5c	APN	17	58,362,673 (GRCm39)	missense	probably damaging	0.98
IGL00942:Cntnap5c	APN	17	58,076,593 (GRCm39)	missense	probably benign	0.03
IGL01352:Cntnap5c	APN	17	58,600,896 (GRCm39)	missense	probably benign	0.00
IGL01822:Cntnap5c	APN	17	58,362,700 (GRCm39)	missense	probably damaging	0.99
IGL01864:Cntnap5c	APN	17	58,717,237 (GRCm39)	missense	probably benign
IGL01922:Cntnap5c	APN	17	58,637,114 (GRCm39)	missense	possibly damaging	0.95
IGL02111:Cntnap5c	APN	17	58,409,103 (GRCm39)	missense	probably damaging	1.00
IGL02112:Cntnap5c	APN	17	58,620,853 (GRCm39)	missense	probably benign	0.00
IGL02259:Cntnap5c	APN	17	58,341,857 (GRCm39)	missense	probably damaging	0.98
IGL02270:Cntnap5c	APN	17	58,341,848 (GRCm39)	missense	probably benign	0.08
IGL02312:Cntnap5c	APN	17	58,445,694 (GRCm39)	missense	probably benign	0.09
IGL02456:Cntnap5c	APN	17	58,714,739 (GRCm39)	splice site	probably benign
IGL02755:Cntnap5c	APN	17	58,671,189 (GRCm39)	missense	probably benign	0.02
IGL02955:Cntnap5c	APN	17	58,199,097 (GRCm39)	splice site	probably benign
IGL03001:Cntnap5c	APN	17	58,362,634 (GRCm39)	missense	probably damaging	1.00
IGL03012:Cntnap5c	APN	17	58,666,229 (GRCm39)	missense	probably benign	0.01
IGL03243:Cntnap5c	APN	17	58,409,171 (GRCm39)	missense	probably benign	0.01
IGL03375:Cntnap5c	APN	17	58,469,200 (GRCm39)	missense	possibly damaging	0.94
IGL02802:Cntnap5c	UTSW	17	58,612,679 (GRCm39)	missense	probably benign	0.04
LCD18:Cntnap5c	UTSW	17	58,469,155 (GRCm39)	intron	probably benign
R0003:Cntnap5c	UTSW	17	58,506,012 (GRCm39)	missense	probably benign
R0041:Cntnap5c	UTSW	17	58,183,464 (GRCm39)	missense	probably benign	0.00
R0041:Cntnap5c	UTSW	17	58,183,464 (GRCm39)	missense	probably benign	0.00
R0046:Cntnap5c	UTSW	17	58,666,295 (GRCm39)	missense	probably benign
R0179:Cntnap5c	UTSW	17	58,076,620 (GRCm39)	missense	probably benign	0.19
R0244:Cntnap5c	UTSW	17	58,409,163 (GRCm39)	missense	probably damaging	1.00
R0445:Cntnap5c	UTSW	17	58,411,738 (GRCm39)	missense	probably benign	0.01
R0626:Cntnap5c	UTSW	17	58,349,422 (GRCm39)	missense	probably benign	0.29
R0675:Cntnap5c	UTSW	17	58,341,990 (GRCm39)	missense	probably damaging	1.00
R0681:Cntnap5c	UTSW	17	58,612,550 (GRCm39)	missense	possibly damaging	0.91
R0699:Cntnap5c	UTSW	17	58,349,493 (GRCm39)	missense	probably damaging	1.00
R0927:Cntnap5c	UTSW	17	58,349,553 (GRCm39)	missense	possibly damaging	0.78
R1081:Cntnap5c	UTSW	17	58,612,520 (GRCm39)	missense	possibly damaging	0.90
R1132:Cntnap5c	UTSW	17	58,601,351 (GRCm39)	missense	probably damaging	1.00
R1175:Cntnap5c	UTSW	17	58,671,241 (GRCm39)	missense	possibly damaging	0.51
R1640:Cntnap5c	UTSW	17	58,702,289 (GRCm39)	missense	probably benign	0.01
R1664:Cntnap5c	UTSW	17	58,600,985 (GRCm39)	missense	probably benign	0.00
R1758:Cntnap5c	UTSW	17	58,349,545 (GRCm39)	missense	probably damaging	1.00
R1785:Cntnap5c	UTSW	17	58,469,286 (GRCm39)	missense	probably benign	0.00
R1789:Cntnap5c	UTSW	17	58,320,916 (GRCm39)	missense	probably damaging	1.00
R1968:Cntnap5c	UTSW	17	58,666,291 (GRCm39)	missense	probably damaging	1.00
R2041:Cntnap5c	UTSW	17	58,505,984 (GRCm39)	missense	probably benign	0.02
R2041:Cntnap5c	UTSW	17	58,411,765 (GRCm39)	critical splice donor site	probably null
R2073:Cntnap5c	UTSW	17	58,612,547 (GRCm39)	missense	possibly damaging	0.58
R2093:Cntnap5c	UTSW	17	58,505,995 (GRCm39)	missense	probably benign	0.00
R2134:Cntnap5c	UTSW	17	58,714,717 (GRCm39)	missense	probably damaging	1.00
R2153:Cntnap5c	UTSW	17	58,362,666 (GRCm39)	missense	possibly damaging	0.90
R2176:Cntnap5c	UTSW	17	58,320,941 (GRCm39)	missense	probably benign	0.04
R2256:Cntnap5c	UTSW	17	58,637,310 (GRCm39)	missense	probably benign	0.00
R2847:Cntnap5c	UTSW	17	58,183,387 (GRCm39)	missense	probably damaging	0.99
R2848:Cntnap5c	UTSW	17	58,183,387 (GRCm39)	missense	probably damaging	0.99
R2850:Cntnap5c	UTSW	17	58,717,343 (GRCm39)	utr 3 prime	probably benign
R3008:Cntnap5c	UTSW	17	58,666,204 (GRCm39)	missense	probably damaging	1.00
R3714:Cntnap5c	UTSW	17	58,199,062 (GRCm39)	nonsense	probably null
R3720:Cntnap5c	UTSW	17	58,637,197 (GRCm39)	missense	probably benign
R3755:Cntnap5c	UTSW	17	58,411,594 (GRCm39)	missense	possibly damaging	0.82
R4001:Cntnap5c	UTSW	17	58,714,735 (GRCm39)	critical splice donor site	probably null
R4619:Cntnap5c	UTSW	17	58,717,263 (GRCm39)	missense	probably benign
R5146:Cntnap5c	UTSW	17	58,320,842 (GRCm39)	missense	probably damaging	0.96
R5309:Cntnap5c	UTSW	17	58,666,249 (GRCm39)	missense	probably benign	0.05
R5312:Cntnap5c	UTSW	17	58,666,249 (GRCm39)	missense	probably benign	0.05
R5722:Cntnap5c	UTSW	17	58,620,852 (GRCm39)	missense	probably benign	0.01
R5974:Cntnap5c	UTSW	17	58,183,480 (GRCm39)	missense	probably benign	0.00
R6017:Cntnap5c	UTSW	17	58,411,693 (GRCm39)	missense	probably benign	0.41
R6059:Cntnap5c	UTSW	17	58,620,707 (GRCm39)	missense	probably damaging	0.99
R6152:Cntnap5c	UTSW	17	58,593,881 (GRCm39)	missense	possibly damaging	0.65
R6182:Cntnap5c	UTSW	17	58,183,390 (GRCm39)	missense	probably benign	0.00
R6298:Cntnap5c	UTSW	17	58,411,747 (GRCm39)	missense	probably damaging	1.00
R6301:Cntnap5c	UTSW	17	58,199,032 (GRCm39)	missense	probably benign	0.01
R6514:Cntnap5c	UTSW	17	58,637,165 (GRCm39)	missense	probably damaging	0.96
R6583:Cntnap5c	UTSW	17	58,637,272 (GRCm39)	missense	probably damaging	1.00
R6688:Cntnap5c	UTSW	17	58,600,899 (GRCm39)	missense	possibly damaging	0.71
R6781:Cntnap5c	UTSW	17	58,445,648 (GRCm39)	nonsense	probably null
R6866:Cntnap5c	UTSW	17	58,399,289 (GRCm39)	missense	probably benign
R6906:Cntnap5c	UTSW	17	58,702,302 (GRCm39)	missense	probably benign	0.18
R6911:Cntnap5c	UTSW	17	58,199,009 (GRCm39)	missense	probably damaging	1.00
R6919:Cntnap5c	UTSW	17	58,600,948 (GRCm39)	missense	probably benign	0.02
R6923:Cntnap5c	UTSW	17	58,399,345 (GRCm39)	missense	possibly damaging	0.96
R6925:Cntnap5c	UTSW	17	58,702,261 (GRCm39)	missense	probably benign	0.39
R6982:Cntnap5c	UTSW	17	58,399,247 (GRCm39)	missense	possibly damaging	0.77
R7144:Cntnap5c	UTSW	17	58,593,883 (GRCm39)	missense	probably benign
R7422:Cntnap5c	UTSW	17	58,717,226 (GRCm39)	nonsense	probably null
R7797:Cntnap5c	UTSW	17	58,666,270 (GRCm39)	missense	probably benign	0.11
R7830:Cntnap5c	UTSW	17	58,469,245 (GRCm39)	missense	probably damaging	1.00
R8169:Cntnap5c	UTSW	17	58,411,765 (GRCm39)	critical splice donor site	probably null
R8351:Cntnap5c	UTSW	17	58,362,687 (GRCm39)	missense	probably damaging	1.00
R8352:Cntnap5c	UTSW	17	58,362,687 (GRCm39)	missense	probably damaging	1.00
R8451:Cntnap5c	UTSW	17	58,362,687 (GRCm39)	missense	probably damaging	1.00
R8452:Cntnap5c	UTSW	17	58,362,687 (GRCm39)	missense	probably damaging	1.00
R8696:Cntnap5c	UTSW	17	58,601,294 (GRCm39)	missense	probably damaging	1.00
R8725:Cntnap5c	UTSW	17	58,362,663 (GRCm39)	missense	probably damaging	1.00
R8838:Cntnap5c	UTSW	17	58,198,964 (GRCm39)	missense
R8901:Cntnap5c	UTSW	17	58,637,156 (GRCm39)	missense	probably benign	0.03
R8911:Cntnap5c	UTSW	17	58,506,043 (GRCm39)	missense	probably damaging	0.98
R9010:Cntnap5c	UTSW	17	58,671,159 (GRCm39)	missense	probably benign	0.00
R9065:Cntnap5c	UTSW	17	58,445,642 (GRCm39)	missense	probably damaging	1.00
R9082:Cntnap5c	UTSW	17	58,637,335 (GRCm39)	missense	probably damaging	0.98
R9122:Cntnap5c	UTSW	17	58,411,601 (GRCm39)	missense	probably benign	0.01
R9137:Cntnap5c	UTSW	17	58,601,203 (GRCm39)	splice site	probably benign
R9176:Cntnap5c	UTSW	17	58,620,730 (GRCm39)	missense	probably damaging	1.00
R9179:Cntnap5c	UTSW	17	58,600,912 (GRCm39)	missense	probably benign	0.14
R9352:Cntnap5c	UTSW	17	58,399,463 (GRCm39)	missense	probably benign	0.01
R9485:Cntnap5c	UTSW	17	58,409,103 (GRCm39)	missense	probably damaging	1.00
R9558:Cntnap5c	UTSW	17	58,671,157 (GRCm39)	critical splice acceptor site	probably null
R9792:Cntnap5c	UTSW	17	58,409,192 (GRCm39)	missense	probably benign	0.03
R9793:Cntnap5c	UTSW	17	58,409,192 (GRCm39)	missense	probably benign	0.03
R9795:Cntnap5c	UTSW	17	58,409,192 (GRCm39)	missense	probably benign	0.03
RF010:Cntnap5c	UTSW	17	58,593,790 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-03-25