Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03080:Cntn4'

417817

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntn4

Ensembl Gene

ENSMUSG00000064293

Gene Name

contactin 4

Synonyms

BIG-2A, Axcam

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

IGL03080

Quality Score

Status

Chromosome

Chromosomal Location

105654621-106676271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106632500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 508 (D508G)

Ref Sequence

ENSEMBL: ENSMUSP00000108889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079416] [ENSMUST00000089208] [ENSMUST00000113260] [ENSMUST00000113261] [ENSMUST00000113264]

AlphaFold

Q69Z26

Predicted Effect

probably damaging
Transcript: ENSMUST00000079416
AA Change: D508G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
AA Change: D508G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000089208
AA Change: D508G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: D508G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART
FN3	700	786	8.39e0	SMART
FN3	801	886	1.33e-6	SMART
FN3	901	981	9.85e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113260
AA Change: D508G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
AA Change: D508G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113261
AA Change: D508G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
AA Change: D508G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113264
AA Change: D508G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: D508G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART
FN3	700	786	8.39e0	SMART
FN3	801	886	1.33e-6	SMART
FN3	901	981	9.85e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204621

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	T	C	8: 80,429,630 (GRCm39)		probably null	Het
Adgrf3	T	C	5: 30,401,827 (GRCm39)	M734V	probably benign	Het
Aqp8	T	G	7: 123,065,802 (GRCm39)		probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cyp11b1	A	T	15: 74,711,285 (GRCm39)		probably null	Het
Dnah8	A	G	17: 30,937,980 (GRCm39)	D1619G	probably benign	Het
Eif1ad17	A	T	12: 87,978,615 (GRCm39)		probably benign	Het
Ephb4	T	A	5: 137,352,345 (GRCm39)		probably benign	Het
Ffar3	A	T	7: 30,554,747 (GRCm39)	V191E	probably damaging	Het
Galnt1	T	A	18: 24,402,574 (GRCm39)	D310E	probably damaging	Het
Igf2r	T	C	17: 12,945,563 (GRCm39)	Y342C	probably benign	Het
Jade1	T	A	3: 41,554,510 (GRCm39)	C251*	probably null	Het
Jhy	T	C	9: 40,855,653 (GRCm39)	E278G	probably damaging	Het
Kif24	A	C	4: 41,394,417 (GRCm39)	S819A	probably benign	Het
Lrp8	T	C	4: 107,712,996 (GRCm39)	L344P	probably damaging	Het
Lrrc27	A	G	7: 138,810,153 (GRCm39)	T375A	probably benign	Het
Mbd3	C	T	10: 80,229,085 (GRCm39)	R204Q	probably damaging	Het
Nab2	T	C	10: 127,500,663 (GRCm39)	N143S	possibly damaging	Het
Nkiras2	T	C	11: 100,515,105 (GRCm39)		probably null	Het
Or7e174	A	T	9: 20,012,705 (GRCm39)	I217F	probably damaging	Het
Palm	C	A	10: 79,654,951 (GRCm39)	H74Q	probably damaging	Het
Pros1	T	A	16: 62,738,506 (GRCm39)	N408K	probably damaging	Het
Psg23	T	A	7: 18,340,910 (GRCm39)	Y448F	probably damaging	Het
Ranbp2	C	A	10: 58,312,613 (GRCm39)	P1111Q	probably benign	Het
Rims2	A	G	15: 39,399,299 (GRCm39)	S1115G	probably damaging	Het
Scn7a	T	C	2: 66,528,160 (GRCm39)	T777A	probably benign	Het
Spata31h1	T	C	10: 82,119,816 (GRCm39)	D428G	probably damaging	Het
Stard3nl	A	T	13: 19,554,648 (GRCm39)		probably null	Het
Sult1d1	T	C	5: 87,704,847 (GRCm39)	D214G	probably benign	Het
Tmprss12	T	C	15: 100,190,529 (GRCm39)	W300R	probably damaging	Het
Tmprss2	T	C	16: 97,398,044 (GRCm39)	Y44C	probably damaging	Het
Ttk	A	G	9: 83,725,136 (GRCm39)	N154D	probably damaging	Het
Tut4	T	A	4: 108,363,021 (GRCm39)	S444R	probably damaging	Het
Tyw1	T	C	5: 130,295,896 (GRCm39)	Y108H	probably damaging	Het
Vmn2r44	C	A	7: 8,386,244 (GRCm39)		probably benign	Het
Zfand1	A	G	3: 10,405,797 (GRCm39)	*269Q	probably null	Het
Zfp142	A	T	1: 74,610,368 (GRCm39)	D1039E	probably benign	Het
Zkscan5	G	T	5: 145,155,460 (GRCm39)	S377I	probably damaging	Het

Other mutations in Cntn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Cntn4	APN	6	106,483,186 (GRCm39)	missense	probably damaging	1.00
IGL00725:Cntn4	APN	6	106,639,616 (GRCm39)	missense	probably damaging	1.00
IGL01062:Cntn4	APN	6	106,595,239 (GRCm39)	splice site	probably benign
IGL01432:Cntn4	APN	6	106,655,295 (GRCm39)	splice site	probably benign
IGL01585:Cntn4	APN	6	106,595,289 (GRCm39)	nonsense	probably null
IGL01710:Cntn4	APN	6	106,527,392 (GRCm39)	missense	possibly damaging	0.87
IGL01870:Cntn4	APN	6	106,466,676 (GRCm39)	missense	possibly damaging	0.95
IGL01933:Cntn4	APN	6	106,671,345 (GRCm39)	missense	probably damaging	0.99
IGL01937:Cntn4	APN	6	106,414,865 (GRCm39)	missense	probably damaging	1.00
IGL01945:Cntn4	APN	6	106,414,865 (GRCm39)	missense	probably damaging	1.00
IGL02007:Cntn4	APN	6	106,632,490 (GRCm39)	missense	probably benign	0.03
IGL02506:Cntn4	APN	6	106,595,349 (GRCm39)	missense	probably benign	0.24
IGL02561:Cntn4	APN	6	106,500,470 (GRCm39)	missense	probably damaging	1.00
IGL03338:Cntn4	APN	6	106,632,550 (GRCm39)	missense	probably damaging	0.98
IGL03097:Cntn4	UTSW	6	106,330,673 (GRCm39)	missense	probably benign	0.10
LCD18:Cntn4	UTSW	6	106,530,901 (GRCm39)	intron	probably benign
R0083:Cntn4	UTSW	6	106,502,330 (GRCm39)	missense	possibly damaging	0.79
R0098:Cntn4	UTSW	6	106,595,385 (GRCm39)	splice site	probably benign
R0501:Cntn4	UTSW	6	106,595,296 (GRCm39)	missense	probably damaging	1.00
R0626:Cntn4	UTSW	6	106,639,539 (GRCm39)	missense	probably benign	0.07
R0633:Cntn4	UTSW	6	106,656,209 (GRCm39)	splice site	probably null
R0730:Cntn4	UTSW	6	106,527,447 (GRCm39)	missense	probably damaging	1.00
R0849:Cntn4	UTSW	6	106,644,418 (GRCm39)	missense	probably damaging	1.00
R0883:Cntn4	UTSW	6	106,644,501 (GRCm39)	splice site	probably benign
R0926:Cntn4	UTSW	6	106,632,542 (GRCm39)	missense	probably benign	0.21
R1199:Cntn4	UTSW	6	106,330,558 (GRCm39)	splice site	probably benign
R1293:Cntn4	UTSW	6	106,330,685 (GRCm39)	missense	probably benign	0.00
R1296:Cntn4	UTSW	6	106,486,363 (GRCm39)	missense	probably damaging	1.00
R1344:Cntn4	UTSW	6	106,321,831 (GRCm39)	splice site	probably null
R1418:Cntn4	UTSW	6	106,321,831 (GRCm39)	splice site	probably null
R1660:Cntn4	UTSW	6	106,656,258 (GRCm39)	missense	probably benign	0.35
R1751:Cntn4	UTSW	6	106,595,371 (GRCm39)	critical splice donor site	probably null
R1883:Cntn4	UTSW	6	106,656,353 (GRCm39)	missense	probably benign	0.01
R1884:Cntn4	UTSW	6	106,656,353 (GRCm39)	missense	probably benign	0.01
R1899:Cntn4	UTSW	6	106,652,774 (GRCm39)	missense	probably benign	0.21
R1906:Cntn4	UTSW	6	106,330,607 (GRCm39)	missense	probably benign	0.00
R2048:Cntn4	UTSW	6	106,414,825 (GRCm39)	splice site	probably benign
R2113:Cntn4	UTSW	6	106,466,658 (GRCm39)	missense	probably damaging	1.00
R3177:Cntn4	UTSW	6	106,414,925 (GRCm39)	critical splice donor site	probably null
R3277:Cntn4	UTSW	6	106,414,925 (GRCm39)	critical splice donor site	probably null
R3944:Cntn4	UTSW	6	106,595,375 (GRCm39)	missense	probably benign	0.10
R4401:Cntn4	UTSW	6	106,466,625 (GRCm39)	missense	possibly damaging	0.94
R4540:Cntn4	UTSW	6	106,652,709 (GRCm39)	missense	probably damaging	1.00
R4688:Cntn4	UTSW	6	106,414,910 (GRCm39)	missense	probably damaging	1.00
R4697:Cntn4	UTSW	6	106,502,446 (GRCm39)	missense	probably damaging	1.00
R4810:Cntn4	UTSW	6	106,632,572 (GRCm39)	missense	probably benign	0.04
R4816:Cntn4	UTSW	6	106,527,458 (GRCm39)	missense	probably benign
R4873:Cntn4	UTSW	6	106,414,874 (GRCm39)	missense	possibly damaging	0.61
R4875:Cntn4	UTSW	6	106,414,874 (GRCm39)	missense	possibly damaging	0.61
R4953:Cntn4	UTSW	6	106,502,379 (GRCm39)	missense	probably benign	0.01
R5288:Cntn4	UTSW	6	106,158,765 (GRCm39)	missense	possibly damaging	0.60
R5336:Cntn4	UTSW	6	106,639,595 (GRCm39)	missense	possibly damaging	0.72
R5386:Cntn4	UTSW	6	106,158,765 (GRCm39)	missense	possibly damaging	0.60
R5477:Cntn4	UTSW	6	106,650,911 (GRCm39)	missense	possibly damaging	0.88
R5514:Cntn4	UTSW	6	106,649,844 (GRCm39)	missense	probably damaging	1.00
R5668:Cntn4	UTSW	6	106,656,397 (GRCm39)	splice site	silent
R6334:Cntn4	UTSW	6	106,321,747 (GRCm39)	missense	probably benign
R6334:Cntn4	UTSW	6	106,483,153 (GRCm39)	missense	probably benign	0.29
R6904:Cntn4	UTSW	6	106,674,544 (GRCm39)	missense	probably benign	0.03
R6985:Cntn4	UTSW	6	106,656,378 (GRCm39)	missense	probably benign	0.03
R7246:Cntn4	UTSW	6	106,483,180 (GRCm39)	missense	probably damaging	1.00
R7282:Cntn4	UTSW	6	106,502,421 (GRCm39)	missense	probably damaging	0.99
R7585:Cntn4	UTSW	6	106,466,572 (GRCm39)	missense	probably damaging	1.00
R7667:Cntn4	UTSW	6	106,656,856 (GRCm39)	missense	possibly damaging	0.83
R7781:Cntn4	UTSW	6	106,500,575 (GRCm39)	missense	probably damaging	1.00
R7882:Cntn4	UTSW	6	106,330,684 (GRCm39)	missense	probably benign
R8081:Cntn4	UTSW	6	106,651,568 (GRCm39)	missense	possibly damaging	0.95
R8105:Cntn4	UTSW	6	106,330,567 (GRCm39)	missense	probably damaging	1.00
R8221:Cntn4	UTSW	6	106,486,471 (GRCm39)	missense	probably benign	0.17
R8910:Cntn4	UTSW	6	106,632,497 (GRCm39)	missense	probably benign	0.10
R8911:Cntn4	UTSW	6	106,330,743 (GRCm39)	critical splice donor site	probably null
R8916:Cntn4	UTSW	6	106,652,915 (GRCm39)	missense	probably damaging	0.99
R9249:Cntn4	UTSW	6	106,466,722 (GRCm39)	missense	possibly damaging	0.95
R9376:Cntn4	UTSW	6	106,639,591 (GRCm39)	missense	probably damaging	1.00
R9616:Cntn4	UTSW	6	106,674,525 (GRCm39)	nonsense	probably null
R9767:Cntn4	UTSW	6	106,655,395 (GRCm39)	missense	probably benign	0.40
Z1176:Cntn4	UTSW	6	106,500,524 (GRCm39)	missense	probably benign	0.00
Z1176:Cntn4	UTSW	6	106,486,425 (GRCm39)	missense	probably benign	0.28
Z1177:Cntn4	UTSW	6	106,639,579 (GRCm39)	missense	probably damaging	1.00
Z1177:Cntn4	UTSW	6	106,527,386 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02