Incidental Mutation 'R6193:Cntn3'
| ID |
502711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn3
|
| Ensembl Gene |
ENSMUSG00000030075 |
| Gene Name |
contactin 3 |
| Synonyms |
Pang |
| MMRRC Submission |
044333-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6193 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102185092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 675
(I675F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032159]
[ENSMUST00000203619]
|
| AlphaFold |
Q07409 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032159
AA Change: I675F
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: I675F
| 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 benign
Transcript: ENSMUST00000203619
AA Change: I675F
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: I675F
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
G |
15: 60,792,629 (GRCm39) |
I106T |
probably benign |
Het |
| Aagab |
A |
C |
9: 63,524,795 (GRCm39) |
N35H |
possibly damaging |
Het |
| Abcf1 |
A |
C |
17: 36,274,464 (GRCm39) |
N161K |
possibly damaging |
Het |
| Adam11 |
T |
A |
11: 102,662,087 (GRCm39) |
H140Q |
probably benign |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Arhgef26 |
A |
T |
3: 62,247,213 (GRCm39) |
D99V |
possibly damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,121,888 (GRCm39) |
S559P |
probably damaging |
Het |
| Capn11 |
A |
G |
17: 45,964,430 (GRCm39) |
|
probably null |
Het |
| Ccdc157 |
T |
C |
11: 4,101,912 (GRCm39) |
H3R |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,927,778 (GRCm39) |
L101P |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,464,993 (GRCm39) |
V80A |
possibly damaging |
Het |
| Cnot6 |
T |
A |
11: 49,570,850 (GRCm39) |
I381F |
probably benign |
Het |
| Cplx2 |
C |
T |
13: 54,527,406 (GRCm39) |
P97S |
probably damaging |
Het |
| Crtac1 |
T |
A |
19: 42,312,236 (GRCm39) |
E159V |
possibly damaging |
Het |
| Cyp27a1 |
A |
G |
1: 74,776,231 (GRCm39) |
I416V |
probably benign |
Het |
| Cyp2d37-ps |
T |
C |
15: 82,574,014 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp2d9 |
A |
G |
15: 82,336,728 (GRCm39) |
T26A |
probably benign |
Het |
| Cyp2j7 |
T |
A |
4: 96,083,440 (GRCm39) |
R503S |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,424,292 (GRCm39) |
|
probably null |
Het |
| Dgkq |
A |
T |
5: 108,803,366 (GRCm39) |
C231* |
probably null |
Het |
| Dync1i1 |
T |
A |
6: 5,730,679 (GRCm39) |
M38K |
probably benign |
Het |
| Eif2ak4 |
C |
T |
2: 118,231,081 (GRCm39) |
|
probably benign |
Het |
| Ephx2 |
A |
T |
14: 66,326,961 (GRCm39) |
D411E |
probably benign |
Het |
| Ephx2 |
T |
G |
14: 66,349,669 (GRCm39) |
Q34P |
probably benign |
Het |
| Fer1l5 |
A |
T |
1: 36,448,517 (GRCm39) |
N1092Y |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fzd4 |
A |
T |
7: 89,057,197 (GRCm39) |
K415* |
probably null |
Het |
| Gfi1 |
A |
T |
5: 107,869,397 (GRCm39) |
Y278N |
probably benign |
Het |
| Gm11565 |
T |
C |
11: 99,806,070 (GRCm39) |
M154T |
probably benign |
Het |
| Gm7247 |
A |
G |
14: 51,759,299 (GRCm39) |
I93V |
possibly damaging |
Het |
| Golm1 |
T |
G |
13: 59,792,972 (GRCm39) |
I178L |
probably benign |
Het |
| Grip1 |
A |
T |
10: 119,874,219 (GRCm39) |
D302V |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,456,254 (GRCm39) |
|
probably null |
Het |
| Herc2 |
C |
A |
7: 55,806,649 (GRCm39) |
P2372T |
probably damaging |
Het |
| Ighv1-59 |
C |
A |
12: 115,298,786 (GRCm39) |
L89F |
probably damaging |
Het |
| Ighv7-4 |
G |
A |
12: 114,186,445 (GRCm39) |
A109V |
possibly damaging |
Het |
| Kcnk10 |
G |
T |
12: 98,407,031 (GRCm39) |
Q222K |
probably benign |
Het |
| Klra6 |
A |
T |
6: 129,995,881 (GRCm39) |
M159K |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,479,306 (GRCm39) |
T36A |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,724,854 (GRCm39) |
Y443* |
probably null |
Het |
| Mmp23 |
T |
A |
4: 155,735,990 (GRCm39) |
M221L |
possibly damaging |
Het |
| Mmp7 |
T |
A |
9: 7,695,519 (GRCm39) |
V132E |
probably damaging |
Het |
| Npas2 |
C |
A |
1: 39,331,843 (GRCm39) |
T86N |
probably damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,650 (GRCm39) |
H86L |
probably benign |
Het |
| Or5al7 |
C |
T |
2: 85,992,628 (GRCm39) |
V222M |
possibly damaging |
Het |
| Papola |
A |
T |
12: 105,786,605 (GRCm39) |
E103V |
probably benign |
Het |
| Parp9 |
A |
T |
16: 35,767,921 (GRCm39) |
N34Y |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,666 (GRCm39) |
D407G |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,455,080 (GRCm39) |
Y487D |
probably damaging |
Het |
| Pira12 |
C |
G |
7: 3,901,049 (GRCm39) |
|
probably null |
Het |
| Pla2g4a |
T |
C |
1: 149,778,181 (GRCm39) |
D5G |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,933,971 (GRCm39) |
L733P |
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,251,899 (GRCm39) |
D425G |
probably benign |
Het |
| Prss2 |
T |
G |
6: 41,498,754 (GRCm39) |
I6S |
unknown |
Het |
| Psme3ip1 |
A |
G |
8: 95,302,348 (GRCm39) |
S228P |
probably damaging |
Het |
| Qrfprl |
T |
A |
6: 65,433,142 (GRCm39) |
F321I |
probably damaging |
Het |
| Qrich2 |
T |
A |
11: 116,344,979 (GRCm39) |
I1693L |
probably benign |
Het |
| Rad52 |
T |
C |
6: 119,897,143 (GRCm39) |
V324A |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,976,751 (GRCm39) |
Y1352N |
possibly damaging |
Het |
| Rsad2 |
T |
G |
12: 26,506,186 (GRCm39) |
Y78S |
probably damaging |
Het |
| Scaf1 |
A |
G |
7: 44,656,204 (GRCm39) |
|
probably benign |
Het |
| Sfxn5 |
T |
C |
6: 85,246,918 (GRCm39) |
T131A |
probably damaging |
Het |
| Slc4a10 |
T |
G |
2: 62,073,701 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
A |
G |
5: 77,164,183 (GRCm39) |
D62G |
possibly damaging |
Het |
| Syt1 |
A |
G |
10: 108,336,597 (GRCm39) |
V357A |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,937,621 (GRCm39) |
D1685V |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,252,543 (GRCm39) |
T315A |
probably benign |
Het |
| Tmem266 |
T |
C |
9: 55,344,493 (GRCm39) |
L375P |
probably benign |
Het |
| Tsks |
T |
G |
7: 44,603,263 (GRCm39) |
L355R |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Ube2f |
T |
A |
1: 91,203,041 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
T |
1: 74,532,087 (GRCm39) |
V102D |
probably damaging |
Het |
| Usp44 |
G |
A |
10: 93,683,010 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,575,983 (GRCm39) |
F527S |
probably benign |
Het |
| Zfp101 |
A |
C |
17: 33,600,720 (GRCm39) |
Y345* |
probably null |
Het |
| Zfp160 |
C |
A |
17: 21,247,124 (GRCm39) |
A558E |
probably benign |
Het |
| Zfp236 |
T |
C |
18: 82,622,372 (GRCm39) |
E1686G |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,181,586 (GRCm39) |
D481E |
probably benign |
Het |
| Zswim4 |
A |
G |
8: 84,952,774 (GRCm39) |
V396A |
probably benign |
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 |
|
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 |
|
|
R7447:Cntn3
|
UTSW |
6 |
102,255,416 (GRCm39) |
nonsense |
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'- GGATTATTGAGACAGATCAGTGGC -3'
(R):5'- AAGCTAGGACGCCTTTCTCTG -3'
Sequencing Primer
(F):5'- CAGATCAGTGGCTTGGAGACC -3'
(R):5'- CTCTGTGGGCTGGCAAAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation