Incidental Mutation 'R7447:Cntn3'
ID |
577354 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7447 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 102255416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 161
(E161*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145176
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032159]
[ENSMUST00000203619]
|
AlphaFold |
Q07409 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032159
AA Change: E161*
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: E161*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
1.85e-7 |
SMART |
IG
|
129 |
217 |
1.82e-6 |
SMART |
IGc2
|
240 |
304 |
6.8e-15 |
SMART |
IGc2
|
330 |
393 |
1.74e-12 |
SMART |
IGc2
|
422 |
486 |
1.53e-8 |
SMART |
IG
|
506 |
595 |
5.2e-11 |
SMART |
FN3
|
598 |
684 |
3.4e-13 |
SMART |
FN3
|
701 |
787 |
5.36e-2 |
SMART |
FN3
|
803 |
888 |
4.63e-6 |
SMART |
FN3
|
903 |
983 |
1.07e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000203619
AA Change: E161*
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: E161*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
1.85e-7 |
SMART |
IG
|
129 |
217 |
1.82e-6 |
SMART |
IGc2
|
240 |
304 |
6.8e-15 |
SMART |
IGc2
|
330 |
393 |
1.74e-12 |
SMART |
IGc2
|
422 |
486 |
1.53e-8 |
SMART |
IG
|
506 |
595 |
5.2e-11 |
SMART |
FN3
|
598 |
684 |
3.4e-13 |
SMART |
FN3
|
701 |
787 |
5.36e-2 |
SMART |
FN3
|
803 |
888 |
4.63e-6 |
SMART |
FN3
|
903 |
983 |
1.07e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck5 |
A |
T |
15: 76,479,396 (GRCm39) |
I484F |
possibly damaging |
Het |
Ago2 |
A |
T |
15: 73,009,881 (GRCm39) |
N100K |
probably benign |
Het |
Appl1 |
T |
A |
14: 26,681,409 (GRCm39) |
K130* |
probably null |
Het |
Arhgap39 |
G |
A |
15: 76,649,797 (GRCm39) |
|
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,245,802 (GRCm39) |
|
probably null |
Het |
Camta1 |
A |
T |
4: 151,168,327 (GRCm39) |
V1332E |
probably benign |
Het |
Cd3g |
A |
G |
9: 44,884,857 (GRCm39) |
L129P |
probably damaging |
Het |
Cd80 |
T |
G |
16: 38,294,251 (GRCm39) |
S45A |
probably benign |
Het |
Cdk12 |
A |
T |
11: 98,136,106 (GRCm39) |
Q1120L |
unknown |
Het |
Clip1 |
G |
A |
5: 123,791,696 (GRCm39) |
S158F |
probably benign |
Het |
Cyp3a59 |
A |
C |
5: 146,024,215 (GRCm39) |
K67T |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 49,997,681 (GRCm39) |
L623P |
probably damaging |
Het |
Drd3 |
T |
A |
16: 43,637,426 (GRCm39) |
Y208* |
probably null |
Het |
Dusp10 |
A |
T |
1: 183,801,153 (GRCm39) |
M307L |
probably benign |
Het |
Dync2li1 |
A |
T |
17: 84,955,141 (GRCm39) |
I267L |
possibly damaging |
Het |
Dynlt2b |
T |
A |
16: 32,244,089 (GRCm39) |
V95E |
probably damaging |
Het |
Edn3 |
C |
A |
2: 174,603,544 (GRCm39) |
C97* |
probably null |
Het |
Ehbp1l1 |
T |
A |
19: 5,769,456 (GRCm39) |
T616S |
possibly damaging |
Het |
Eif2a |
C |
T |
3: 58,452,963 (GRCm39) |
T246I |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Errfi1 |
A |
G |
4: 150,951,108 (GRCm39) |
T179A |
probably damaging |
Het |
Esyt3 |
G |
A |
9: 99,203,615 (GRCm39) |
L450F |
probably damaging |
Het |
Evx2 |
A |
G |
2: 74,489,448 (GRCm39) |
S106P |
probably benign |
Het |
Fam83a |
T |
G |
15: 57,873,086 (GRCm39) |
V305G |
probably benign |
Het |
Fem1al |
T |
C |
11: 29,774,122 (GRCm39) |
D445G |
probably benign |
Het |
Gpr171 |
T |
A |
3: 59,005,860 (GRCm39) |
|
probably null |
Het |
Grip1 |
A |
G |
10: 119,922,871 (GRCm39) |
T1106A |
probably benign |
Het |
Hecw1 |
A |
G |
13: 14,531,789 (GRCm39) |
Y162H |
probably damaging |
Het |
Hephl1 |
C |
T |
9: 15,009,178 (GRCm39) |
|
probably null |
Het |
Hsp90aa1 |
A |
G |
12: 110,658,562 (GRCm39) |
I693T |
possibly damaging |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,974 (GRCm39) |
D214V |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,239,222 (GRCm39) |
M320V |
probably benign |
Het |
Kcnq2 |
A |
G |
2: 180,754,887 (GRCm39) |
L220P |
probably damaging |
Het |
Kpna1 |
C |
A |
16: 35,850,009 (GRCm39) |
Q372K |
probably damaging |
Het |
Lilrb4a |
T |
G |
10: 51,367,149 (GRCm39) |
|
probably null |
Het |
Ly75 |
C |
A |
2: 60,164,818 (GRCm39) |
E787* |
probably null |
Het |
Magi1 |
T |
G |
6: 93,722,562 (GRCm39) |
S666R |
possibly damaging |
Het |
Mif |
C |
A |
10: 75,695,687 (GRCm39) |
A39S |
possibly damaging |
Het |
Mob4 |
G |
A |
1: 55,170,625 (GRCm39) |
|
probably benign |
Het |
Mtmr4 |
G |
T |
11: 87,502,727 (GRCm39) |
C927F |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,110,006 (GRCm39) |
K1398R |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,436,464 (GRCm39) |
V873A |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
Nckap5l |
G |
A |
15: 99,325,357 (GRCm39) |
P382L |
probably damaging |
Het |
Ngly1 |
T |
C |
14: 16,290,844 (GRCm38) |
I442T |
probably damaging |
Het |
Nhsl3 |
C |
A |
4: 129,115,835 (GRCm39) |
R988L |
possibly damaging |
Het |
Nlrp1a |
T |
C |
11: 70,983,237 (GRCm39) |
Y1243C |
probably damaging |
Het |
Or8k53 |
T |
A |
2: 86,177,150 (GRCm39) |
H320L |
possibly damaging |
Het |
Pcsk5 |
C |
T |
19: 17,487,600 (GRCm39) |
G1027D |
probably benign |
Het |
Pla2g2c |
T |
A |
4: 138,458,927 (GRCm39) |
I11N |
probably benign |
Het |
Polr3d |
A |
G |
14: 70,677,240 (GRCm39) |
I331T |
probably damaging |
Het |
Ppp4r4 |
A |
G |
12: 103,551,985 (GRCm39) |
I293M |
possibly damaging |
Het |
Prkce |
G |
T |
17: 86,866,687 (GRCm39) |
V516F |
probably damaging |
Het |
Prss27 |
T |
A |
17: 24,264,683 (GRCm39) |
L282Q |
probably damaging |
Het |
Pxdn |
A |
G |
12: 30,034,926 (GRCm39) |
Y261C |
probably damaging |
Het |
R3hcc1l |
T |
C |
19: 42,551,101 (GRCm39) |
S33P |
probably benign |
Het |
Rab11fip3 |
G |
C |
17: 26,287,848 (GRCm39) |
R102G |
possibly damaging |
Het |
Rabggta |
A |
T |
14: 55,956,773 (GRCm39) |
N310K |
probably null |
Het |
Rbbp8 |
T |
A |
18: 11,793,934 (GRCm39) |
D15E |
probably benign |
Het |
Rbm5 |
T |
C |
9: 107,623,378 (GRCm39) |
Y486C |
probably damaging |
Het |
Rptor |
T |
A |
11: 119,775,805 (GRCm39) |
F992Y |
probably benign |
Het |
Slc29a2 |
T |
G |
19: 5,076,445 (GRCm39) |
L111R |
probably damaging |
Het |
Slc39a11 |
T |
A |
11: 113,452,849 (GRCm39) |
I31L |
probably benign |
Het |
Slc6a20a |
T |
A |
9: 123,485,289 (GRCm39) |
N311I |
possibly damaging |
Het |
Slc8a1 |
A |
G |
17: 81,956,435 (GRCm39) |
F201S |
probably damaging |
Het |
Smtn |
C |
A |
11: 3,480,196 (GRCm39) |
V342L |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,074,853 (GRCm39) |
T4598A |
probably benign |
Het |
Tchp |
A |
G |
5: 114,853,716 (GRCm39) |
T267A |
probably benign |
Het |
Tes3-ps |
A |
G |
13: 49,647,508 (GRCm39) |
E128G |
possibly damaging |
Het |
Tigar |
C |
T |
6: 127,065,129 (GRCm39) |
G173E |
probably benign |
Het |
Tmem171 |
T |
C |
13: 98,824,862 (GRCm39) |
N256S |
probably benign |
Het |
Tmem204 |
A |
G |
17: 25,277,270 (GRCm39) |
I205T |
probably damaging |
Het |
Tmem63a |
A |
G |
1: 180,785,588 (GRCm39) |
K240R |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,019,351 (GRCm39) |
T446M |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,937,444 (GRCm39) |
N2931I |
probably damaging |
Het |
Trrap |
G |
T |
5: 144,776,284 (GRCm39) |
R2941L |
probably damaging |
Het |
Ttc8 |
A |
T |
12: 98,910,131 (GRCm39) |
R179S |
probably damaging |
Het |
Ttll12 |
G |
T |
15: 83,471,176 (GRCm39) |
T234N |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,577,576 (GRCm39) |
T24439K |
probably damaging |
Het |
Ube2z |
A |
T |
11: 95,946,736 (GRCm39) |
I246N |
possibly damaging |
Het |
Usp15 |
A |
G |
10: 123,011,786 (GRCm39) |
Y104H |
probably damaging |
Het |
Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
Usp5 |
G |
A |
6: 124,798,077 (GRCm39) |
A436V |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,608,354 (GRCm39) |
L1561S |
probably damaging |
Het |
Xrn1 |
A |
G |
9: 95,927,547 (GRCm39) |
M1444V |
probably benign |
Het |
Zfp236 |
G |
T |
18: 82,651,815 (GRCm39) |
Q885K |
probably damaging |
Het |
Zfp831 |
C |
A |
2: 174,487,896 (GRCm39) |
P857Q |
possibly damaging |
Het |
|
Other mutations in Cntn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00538:Cntn3
|
APN |
6 |
102,397,223 (GRCm39) |
nonsense |
probably null |
|
IGL00706:Cntn3
|
APN |
6 |
102,180,910 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01071:Cntn3
|
APN |
6 |
102,397,212 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01769:Cntn3
|
APN |
6 |
102,185,145 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01995:Cntn3
|
APN |
6 |
102,180,846 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02058:Cntn3
|
APN |
6 |
102,176,321 (GRCm39) |
splice site |
probably benign |
|
IGL02736:Cntn3
|
APN |
6 |
102,180,900 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02955:Cntn3
|
APN |
6 |
102,255,262 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02971:Cntn3
|
APN |
6 |
102,145,894 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03208:Cntn3
|
APN |
6 |
102,164,060 (GRCm39) |
missense |
probably damaging |
0.99 |
P0037:Cntn3
|
UTSW |
6 |
102,186,235 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4431001:Cntn3
|
UTSW |
6 |
102,441,527 (GRCm39) |
missense |
probably benign |
0.22 |
R0314:Cntn3
|
UTSW |
6 |
102,397,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R0388:Cntn3
|
UTSW |
6 |
102,254,277 (GRCm39) |
missense |
probably damaging |
0.96 |
R0483:Cntn3
|
UTSW |
6 |
102,180,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R0539:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
R0543:Cntn3
|
UTSW |
6 |
102,246,051 (GRCm39) |
splice site |
probably benign |
|
R0629:Cntn3
|
UTSW |
6 |
102,180,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R0691:Cntn3
|
UTSW |
6 |
102,145,908 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0693:Cntn3
|
UTSW |
6 |
102,145,908 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0781:Cntn3
|
UTSW |
6 |
102,222,119 (GRCm39) |
missense |
probably benign |
0.22 |
R1110:Cntn3
|
UTSW |
6 |
102,222,119 (GRCm39) |
missense |
probably benign |
0.22 |
R1144:Cntn3
|
UTSW |
6 |
102,219,087 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1503:Cntn3
|
UTSW |
6 |
102,441,526 (GRCm39) |
nonsense |
probably null |
|
R1640:Cntn3
|
UTSW |
6 |
102,218,974 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1681:Cntn3
|
UTSW |
6 |
102,147,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R1770:Cntn3
|
UTSW |
6 |
102,246,166 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1782:Cntn3
|
UTSW |
6 |
102,250,772 (GRCm39) |
missense |
probably damaging |
0.97 |
R1861:Cntn3
|
UTSW |
6 |
102,222,032 (GRCm39) |
missense |
probably benign |
0.11 |
R1930:Cntn3
|
UTSW |
6 |
102,219,014 (GRCm39) |
nonsense |
probably null |
|
R2026:Cntn3
|
UTSW |
6 |
102,397,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R2152:Cntn3
|
UTSW |
6 |
102,183,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R2313:Cntn3
|
UTSW |
6 |
102,180,889 (GRCm39) |
missense |
probably benign |
|
R2351:Cntn3
|
UTSW |
6 |
102,314,344 (GRCm39) |
missense |
possibly damaging |
0.55 |
R3611:Cntn3
|
UTSW |
6 |
102,185,038 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4349:Cntn3
|
UTSW |
6 |
102,176,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R4421:Cntn3
|
UTSW |
6 |
102,441,508 (GRCm39) |
missense |
probably damaging |
0.97 |
R4513:Cntn3
|
UTSW |
6 |
102,145,943 (GRCm39) |
missense |
probably benign |
0.37 |
R4678:Cntn3
|
UTSW |
6 |
102,180,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R4702:Cntn3
|
UTSW |
6 |
102,142,292 (GRCm39) |
missense |
probably benign |
0.37 |
R4720:Cntn3
|
UTSW |
6 |
102,218,983 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4879:Cntn3
|
UTSW |
6 |
102,244,389 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4951:Cntn3
|
UTSW |
6 |
102,145,986 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5410:Cntn3
|
UTSW |
6 |
102,255,314 (GRCm39) |
missense |
probably benign |
0.01 |
R5502:Cntn3
|
UTSW |
6 |
102,242,295 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5852:Cntn3
|
UTSW |
6 |
102,397,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R5903:Cntn3
|
UTSW |
6 |
102,219,094 (GRCm39) |
missense |
probably benign |
0.00 |
R6193:Cntn3
|
UTSW |
6 |
102,185,092 (GRCm39) |
missense |
probably benign |
0.31 |
R6258:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
R6260:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
R6350:Cntn3
|
UTSW |
6 |
102,147,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R6490:Cntn3
|
UTSW |
6 |
102,255,301 (GRCm39) |
missense |
probably damaging |
0.99 |
R6993:Cntn3
|
UTSW |
6 |
102,255,365 (GRCm39) |
missense |
probably damaging |
0.98 |
R7064:Cntn3
|
UTSW |
6 |
102,250,772 (GRCm39) |
missense |
probably damaging |
0.97 |
R7085:Cntn3
|
UTSW |
6 |
102,142,362 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7174:Cntn3
|
UTSW |
6 |
102,142,305 (GRCm39) |
missense |
probably benign |
|
R7208:Cntn3
|
UTSW |
6 |
102,255,383 (GRCm39) |
nonsense |
probably null |
|
R7395:Cntn3
|
UTSW |
6 |
102,314,355 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7571:Cntn3
|
UTSW |
6 |
102,255,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R7586:Cntn3
|
UTSW |
6 |
102,397,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R7614:Cntn3
|
UTSW |
6 |
102,142,337 (GRCm39) |
missense |
probably benign |
0.17 |
R7697:Cntn3
|
UTSW |
6 |
102,185,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R7697:Cntn3
|
UTSW |
6 |
102,185,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R7849:Cntn3
|
UTSW |
6 |
102,242,392 (GRCm39) |
missense |
probably benign |
0.00 |
R8011:Cntn3
|
UTSW |
6 |
102,414,860 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8013:Cntn3
|
UTSW |
6 |
102,176,278 (GRCm39) |
missense |
probably benign |
0.00 |
R8377:Cntn3
|
UTSW |
6 |
102,186,254 (GRCm39) |
missense |
probably benign |
0.00 |
R8726:Cntn3
|
UTSW |
6 |
102,146,014 (GRCm39) |
nonsense |
probably null |
|
R8770:Cntn3
|
UTSW |
6 |
102,254,277 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8827:Cntn3
|
UTSW |
6 |
102,246,094 (GRCm39) |
missense |
probably benign |
0.01 |
R8947:Cntn3
|
UTSW |
6 |
102,414,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Cntn3
|
UTSW |
6 |
102,181,023 (GRCm39) |
missense |
probably damaging |
0.98 |
R9055:Cntn3
|
UTSW |
6 |
102,244,398 (GRCm39) |
missense |
probably benign |
0.38 |
R9061:Cntn3
|
UTSW |
6 |
102,314,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R9758:Cntn3
|
UTSW |
6 |
102,183,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R9762:Cntn3
|
UTSW |
6 |
102,254,196 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Cntn3
|
UTSW |
6 |
102,397,255 (GRCm39) |
missense |
possibly damaging |
0.74 |
Z1176:Cntn3
|
UTSW |
6 |
102,414,892 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Cntn3
|
UTSW |
6 |
102,314,292 (GRCm39) |
missense |
probably benign |
0.17 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCATTCCACTAAGAAGGTCTC -3'
(R):5'- GCACTAGAATGCCAATCAACAGTATTC -3'
Sequencing Primer
(F):5'- GTCTCATACCATCAGAGCGTAG -3'
(R):5'- TGCCAATCAACAGTATTCTTCATC -3'
|
Posted On |
2019-10-07 |