Incidental Mutation 'R7064:Cntn3'
ID |
548445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
MMRRC Submission |
045160-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7064 (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 C
at 102250772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 259
(I259V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145176
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032159]
[ENSMUST00000203619]
|
AlphaFold |
Q07409 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032159
AA Change: I259V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: I259V
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 damaging
Transcript: ENSMUST00000203619
AA Change: I259V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: I259V
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
T |
C |
8: 60,984,746 (GRCm39) |
I263T |
probably damaging |
Het |
Adamtsl1 |
C |
T |
4: 86,260,278 (GRCm39) |
P830S |
possibly damaging |
Het |
Adrb1 |
T |
C |
19: 56,711,456 (GRCm39) |
F218S |
probably damaging |
Het |
Ahnak2 |
T |
C |
12: 112,746,919 (GRCm39) |
|
probably benign |
Het |
Arsj |
T |
A |
3: 126,231,986 (GRCm39) |
V244E |
probably damaging |
Het |
Atm |
T |
C |
9: 53,419,181 (GRCm39) |
E757G |
probably benign |
Het |
AU040320 |
A |
G |
4: 126,685,865 (GRCm39) |
D147G |
probably benign |
Het |
Btnl10 |
A |
T |
11: 58,810,134 (GRCm39) |
M92L |
possibly damaging |
Het |
Chd6 |
T |
C |
2: 160,791,983 (GRCm39) |
D2458G |
probably damaging |
Het |
Ctns |
A |
G |
11: 73,077,218 (GRCm39) |
V250A |
probably benign |
Het |
Cxxc1 |
T |
A |
18: 74,353,678 (GRCm39) |
|
probably null |
Het |
Cyp2a4 |
A |
T |
7: 26,011,732 (GRCm39) |
M318L |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,412,392 (GRCm39) |
L1302P |
probably damaging |
Het |
Decr1 |
C |
A |
4: 15,945,392 (GRCm39) |
|
|
Het |
Dmbx1 |
T |
C |
4: 115,775,465 (GRCm39) |
N272D |
probably damaging |
Het |
Dsel |
C |
A |
1: 111,790,577 (GRCm39) |
|
probably benign |
Het |
Dspp |
A |
C |
5: 104,324,804 (GRCm39) |
D389A |
possibly damaging |
Het |
Ero1a |
T |
C |
14: 45,544,049 (GRCm39) |
T52A |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,839,557 (GRCm39) |
E2229G |
unknown |
Het |
Gabrd |
C |
T |
4: 155,472,803 (GRCm39) |
V127M |
probably damaging |
Het |
Gpc2 |
A |
T |
5: 138,277,172 (GRCm39) |
F85Y |
probably damaging |
Het |
Gucy2g |
A |
G |
19: 55,198,764 (GRCm39) |
L793S |
probably benign |
Het |
Irag1 |
C |
G |
7: 110,495,061 (GRCm39) |
E455Q |
probably damaging |
Het |
Itpr3 |
G |
C |
17: 27,308,269 (GRCm39) |
G298R |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,038,261 (GRCm39) |
C1024S |
probably damaging |
Het |
Krt40 |
T |
C |
11: 99,430,954 (GRCm39) |
Y185C |
probably benign |
Het |
Lmo7 |
G |
A |
14: 102,121,615 (GRCm39) |
D227N |
probably damaging |
Het |
Mmrn1 |
T |
A |
6: 60,965,524 (GRCm39) |
L1184* |
probably null |
Het |
Or10s1 |
T |
A |
9: 39,986,109 (GRCm39) |
Y173N |
probably damaging |
Het |
Or14j2 |
T |
A |
17: 37,885,634 (GRCm39) |
R227W |
probably damaging |
Het |
Or4c15 |
T |
A |
2: 88,759,853 (GRCm39) |
M269L |
probably benign |
Het |
Parp9 |
T |
G |
16: 35,774,042 (GRCm39) |
V338G |
probably benign |
Het |
Pcdh15 |
G |
A |
10: 74,466,446 (GRCm39) |
E888K |
possibly damaging |
Het |
Pcdh9 |
C |
T |
14: 94,123,585 (GRCm39) |
E862K |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,608,317 (GRCm39) |
T3040A |
probably benign |
Het |
Qser1 |
T |
C |
2: 104,617,464 (GRCm39) |
E1026G |
probably damaging |
Het |
Rnf20 |
C |
T |
4: 49,644,580 (GRCm39) |
R282* |
probably null |
Het |
Rpgrip1l |
T |
A |
8: 91,990,148 (GRCm39) |
K765* |
probably null |
Het |
Rprd2 |
G |
A |
3: 95,672,328 (GRCm39) |
T1025M |
probably damaging |
Het |
Scn4a |
A |
G |
11: 106,212,983 (GRCm39) |
Y1341H |
possibly damaging |
Het |
Scn5a |
C |
G |
9: 119,318,977 (GRCm39) |
D1554H |
probably damaging |
Het |
Septin14 |
T |
C |
5: 129,774,870 (GRCm39) |
I102V |
probably benign |
Het |
Septin4 |
A |
G |
11: 87,481,193 (GRCm39) |
T378A |
probably benign |
Het |
Siglec1 |
C |
T |
2: 130,925,834 (GRCm39) |
G291R |
probably benign |
Het |
Sik2 |
A |
G |
9: 50,818,720 (GRCm39) |
V418A |
probably damaging |
Het |
Slc9a5 |
A |
G |
8: 106,076,078 (GRCm39) |
T24A |
possibly damaging |
Het |
Spata31d1b |
T |
C |
13: 59,863,955 (GRCm39) |
S368P |
probably benign |
Het |
Stip1 |
T |
C |
19: 7,012,925 (GRCm39) |
D53G |
probably benign |
Het |
Stk36 |
T |
C |
1: 74,649,979 (GRCm39) |
W245R |
probably damaging |
Het |
Stk39 |
A |
T |
2: 68,189,156 (GRCm39) |
|
probably null |
Het |
Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
Tasor |
C |
T |
14: 27,194,288 (GRCm39) |
P1163S |
probably benign |
Het |
Terb1 |
A |
T |
8: 105,215,186 (GRCm39) |
N263K |
probably benign |
Het |
Tgm5 |
T |
C |
2: 120,883,995 (GRCm39) |
M333V |
probably benign |
Het |
Tmem45a |
T |
C |
16: 56,642,767 (GRCm39) |
M135V |
probably benign |
Het |
Trmt13 |
T |
A |
3: 116,376,346 (GRCm39) |
K348N |
probably damaging |
Het |
Trmt2a |
A |
T |
16: 18,070,868 (GRCm39) |
M534L |
probably damaging |
Het |
Ttll13 |
G |
A |
7: 79,906,778 (GRCm39) |
R513K |
probably null |
Het |
Vmn1r228 |
T |
A |
17: 20,997,285 (GRCm39) |
I78L |
probably benign |
Het |
Washc3 |
T |
C |
10: 88,081,635 (GRCm39) |
V173A |
possibly damaging |
Het |
Zc2hc1b |
A |
T |
10: 13,047,049 (GRCm39) |
C21S |
probably damaging |
Het |
Zfp944 |
T |
A |
17: 22,558,560 (GRCm39) |
H229L |
probably damaging |
Het |
Zfp985 |
T |
A |
4: 147,667,573 (GRCm39) |
I147N |
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 |
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 |
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'- TACCATAGTAAGTGAGCCGCC -3'
(R):5'- TCACTTGGAGATCATGGCAGAAG -3'
Sequencing Primer
(F):5'- ATAGTAAGTGAGCCGCCCTCTC -3'
(R):5'- TACATAGTGGGACCCTCCGTC -3'
|
Posted On |
2019-05-13 |