Incidental Mutation 'R5410:Cntn3'
| ID |
426497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn3
|
| Ensembl Gene |
ENSMUSG00000030075 |
| Gene Name |
contactin 3 |
| Synonyms |
Pang |
| MMRRC Submission |
042979-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5410 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102255314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 195
(T195S)
|
| 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: T195S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: T195S
| 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 |
noncoding transcript
Transcript: ENSMUST00000203050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203619
AA Change: T195S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: T195S
| 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 |
noncoding transcript
Transcript: ENSMUST00000204857
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,134,103 (GRCm39) |
M524V |
probably benign |
Het |
| Adamts20 |
T |
A |
15: 94,179,838 (GRCm39) |
N1788I |
possibly damaging |
Het |
| Arfgef3 |
T |
G |
10: 18,486,985 (GRCm39) |
I1350L |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,896,716 (GRCm39) |
|
probably null |
Het |
| Ascl5 |
A |
T |
1: 135,978,926 (GRCm39) |
I129F |
probably damaging |
Het |
| AU040320 |
A |
T |
4: 126,717,509 (GRCm39) |
H362L |
possibly damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,112,155 (GRCm39) |
N564Y |
probably benign |
Het |
| Cdon |
G |
T |
9: 35,381,331 (GRCm39) |
D574Y |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,937,070 (GRCm39) |
I334F |
possibly damaging |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Csmd2 |
C |
A |
4: 128,442,612 (GRCm39) |
H3221Q |
probably benign |
Het |
| Cyp2c68 |
T |
C |
19: 39,687,728 (GRCm39) |
D423G |
possibly damaging |
Het |
| Dennd3 |
C |
T |
15: 73,419,297 (GRCm39) |
T696M |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,055 (GRCm39) |
M1704T |
unknown |
Het |
| Exoc2 |
A |
G |
13: 31,048,839 (GRCm39) |
F738S |
probably damaging |
Het |
| Fis1 |
A |
G |
5: 136,994,420 (GRCm39) |
E36G |
probably damaging |
Het |
| Galnt1 |
A |
G |
18: 24,400,604 (GRCm39) |
I237V |
probably benign |
Het |
| Gspt1 |
A |
T |
16: 11,048,374 (GRCm39) |
I416N |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hykk |
G |
A |
9: 54,853,350 (GRCm39) |
C224Y |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,829 (GRCm39) |
T111A |
probably benign |
Het |
| Il17rd |
T |
C |
14: 26,817,868 (GRCm39) |
Y186H |
probably damaging |
Het |
| Klhl29 |
G |
T |
12: 5,141,366 (GRCm39) |
N539K |
probably benign |
Het |
| Lmbr1l |
T |
C |
15: 98,807,143 (GRCm39) |
T213A |
probably damaging |
Het |
| Madd |
C |
T |
2: 90,984,859 (GRCm39) |
R1318Q |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,051,870 (GRCm39) |
A182S |
probably benign |
Het |
| Or13c25 |
C |
A |
4: 52,910,991 (GRCm39) |
A268S |
probably benign |
Het |
| Or1e1 |
C |
T |
11: 73,244,632 (GRCm39) |
P18S |
probably benign |
Het |
| Or4f56 |
C |
T |
2: 111,703,637 (GRCm39) |
A188T |
probably damaging |
Het |
| Or52z1 |
A |
T |
7: 103,436,581 (GRCm39) |
V301E |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,399,626 (GRCm39) |
M780K |
probably benign |
Het |
| Pdia5 |
A |
G |
16: 35,273,906 (GRCm39) |
V130A |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,645,975 (GRCm39) |
H202L |
possibly damaging |
Het |
| Ppig |
G |
A |
2: 69,566,241 (GRCm39) |
G136E |
probably null |
Het |
| Prr14l |
C |
A |
5: 32,985,121 (GRCm39) |
R1458L |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,205,019 (GRCm39) |
Y714C |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 116,024,235 (GRCm39) |
V182A |
possibly damaging |
Het |
| Rai14 |
A |
G |
15: 10,575,024 (GRCm39) |
Y645H |
probably damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,804,042 (GRCm39) |
I115T |
probably benign |
Het |
| Rc3h1 |
G |
T |
1: 160,792,533 (GRCm39) |
R990L |
possibly damaging |
Het |
| Rdh5 |
T |
A |
10: 128,754,160 (GRCm39) |
Q21L |
probably benign |
Het |
| Rfx8 |
A |
G |
1: 39,749,316 (GRCm39) |
|
probably null |
Het |
| Scap |
A |
G |
9: 110,203,250 (GRCm39) |
|
probably null |
Het |
| Shank1 |
T |
A |
7: 44,001,246 (GRCm39) |
S988R |
unknown |
Het |
| Slc16a14 |
T |
A |
1: 84,885,145 (GRCm39) |
I465F |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,117,232 (GRCm39) |
|
probably null |
Het |
| Tab2 |
T |
C |
10: 7,795,585 (GRCm39) |
H225R |
possibly damaging |
Het |
| Tbx19 |
T |
A |
1: 164,987,941 (GRCm39) |
N64I |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,677,965 (GRCm39) |
I268K |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,162,293 (GRCm39) |
M388V |
probably benign |
Het |
| Trbv17 |
T |
C |
6: 41,140,472 (GRCm39) |
L109P |
probably damaging |
Het |
| Trim72 |
A |
G |
7: 127,609,095 (GRCm39) |
H299R |
probably damaging |
Het |
| Ulbp3 |
G |
A |
10: 3,076,473 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r63 |
C |
T |
7: 5,806,189 (GRCm39) |
V148I |
possibly damaging |
Het |
| Zfp938 |
A |
C |
10: 82,061,092 (GRCm39) |
H509Q |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,657,739 (GRCm39) |
V724A |
probably benign |
Het |
| Zscan10 |
T |
C |
17: 23,829,395 (GRCm39) |
F569L |
probably 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 |
|
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 |
|
|
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'- AGGTAATGCCACAGGACTTTTC -3'
(R):5'- TTCTTCTGAATGGCTGGCAAG -3'
Sequencing Primer
(F):5'- GGTAATGCCACAGGACTTTTCTTTAC -3'
(R):5'- TCTTCTGAATGGCTGGCAAGAAAAAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation