Incidental Mutation 'R8726:Cntn3'
| ID |
662422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn3
|
| Ensembl Gene |
ENSMUSG00000030075 |
| Gene Name |
contactin 3 |
| Synonyms |
Pang |
| MMRRC Submission |
068616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 102146014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 942
(Y942*)
|
| 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: Y942*
|
| SMART Domains |
Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: Y942*
| 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: Y942*
|
| SMART Domains |
Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: Y942*
| 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 |
|
| Meta Mutation Damage Score |
0.9717 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (76/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
A |
G |
11: 69,789,207 (GRCm39) |
S331P |
possibly damaging |
Het |
| 4930433I11Rik |
A |
G |
7: 40,644,226 (GRCm39) |
M632V |
probably benign |
Het |
| 9930111J21Rik2 |
A |
C |
11: 48,910,507 (GRCm39) |
V642G |
probably damaging |
Het |
| Abcd4 |
A |
T |
12: 84,651,171 (GRCm39) |
|
probably benign |
Het |
| Acsbg1 |
T |
C |
9: 54,525,462 (GRCm39) |
E363G |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,823,084 (GRCm39) |
H584Q |
|
Het |
| Ankrd11 |
A |
T |
8: 123,620,765 (GRCm39) |
L1029Q |
possibly damaging |
Het |
| Anpep |
C |
T |
7: 79,490,641 (GRCm39) |
V292I |
probably benign |
Het |
| Atmin |
G |
A |
8: 117,681,525 (GRCm39) |
D175N |
possibly damaging |
Het |
| B4galt6 |
T |
C |
18: 20,821,450 (GRCm39) |
I359M |
possibly damaging |
Het |
| Bicd2 |
A |
G |
13: 49,532,905 (GRCm39) |
D497G |
probably damaging |
Het |
| Calcr |
C |
T |
6: 3,707,489 (GRCm39) |
|
probably benign |
Het |
| Camkk2 |
G |
T |
5: 122,882,002 (GRCm39) |
D418E |
probably benign |
Het |
| Col8a1 |
C |
T |
16: 57,449,138 (GRCm39) |
R124H |
probably damaging |
Het |
| Coro7 |
T |
C |
16: 4,486,619 (GRCm39) |
T185A |
possibly damaging |
Het |
| Creb3 |
C |
T |
4: 43,566,747 (GRCm39) |
P364S |
probably benign |
Het |
| Csf1r |
A |
T |
18: 61,250,728 (GRCm39) |
T480S |
probably benign |
Het |
| Csnk1g1 |
T |
A |
9: 65,909,553 (GRCm39) |
H223Q |
probably damaging |
Het |
| Ctns |
C |
T |
11: 73,078,613 (GRCm39) |
V171M |
probably benign |
Het |
| Dhx15 |
A |
T |
5: 52,311,568 (GRCm39) |
N637K |
probably benign |
Het |
| Eif4g1 |
T |
C |
16: 20,494,232 (GRCm39) |
Y103H |
probably damaging |
Het |
| Eif4g2 |
C |
T |
7: 110,676,629 (GRCm39) |
R295H |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,477,206 (GRCm39) |
P2084L |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,064,647 (GRCm39) |
R4868G |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,282,014 (GRCm39) |
Y295* |
probably null |
Het |
| Fmn2 |
C |
A |
1: 174,437,404 (GRCm39) |
T1125N |
possibly damaging |
Het |
| Foxi2 |
C |
A |
7: 135,012,133 (GRCm39) |
P7Q |
probably damaging |
Het |
| Hmx1 |
C |
T |
5: 35,549,100 (GRCm39) |
P131L |
probably damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,171 (GRCm39) |
L49P |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,585,285 (GRCm39) |
T171A |
possibly damaging |
Het |
| Igkv6-14 |
A |
G |
6: 70,412,125 (GRCm39) |
V53A |
possibly damaging |
Het |
| Kcnb2 |
C |
A |
1: 15,780,876 (GRCm39) |
Q583K |
probably benign |
Het |
| Kcns3 |
A |
G |
12: 11,141,692 (GRCm39) |
S336P |
probably damaging |
Het |
| Kremen2 |
G |
T |
17: 23,961,720 (GRCm39) |
F262L |
probably damaging |
Het |
| Krtap9-1 |
T |
A |
11: 99,764,577 (GRCm39) |
C104* |
probably null |
Het |
| Ky |
A |
G |
9: 102,405,102 (GRCm39) |
Y199C |
probably damaging |
Het |
| L1td1 |
T |
G |
4: 98,622,215 (GRCm39) |
L259R |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,261,062 (GRCm39) |
T1473A |
probably benign |
Het |
| Lrp6 |
A |
T |
6: 134,484,624 (GRCm39) |
L333* |
probably null |
Het |
| Lrrc23 |
T |
C |
6: 124,753,043 (GRCm39) |
N201S |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,043,142 (GRCm39) |
P666T |
possibly damaging |
Het |
| Matn1 |
T |
A |
4: 130,679,514 (GRCm39) |
D389E |
probably damaging |
Het |
| Mdc1 |
G |
T |
17: 36,158,475 (GRCm39) |
G285V |
probably benign |
Het |
| Mettl17 |
T |
C |
14: 52,128,187 (GRCm39) |
|
probably null |
Het |
| Mknk1 |
A |
T |
4: 115,730,506 (GRCm39) |
|
probably benign |
Het |
| Neurod1 |
A |
T |
2: 79,284,430 (GRCm39) |
F318I |
possibly damaging |
Het |
| Nfya |
T |
C |
17: 48,699,445 (GRCm39) |
T213A |
probably damaging |
Het |
| Nmrk1 |
C |
T |
19: 18,616,902 (GRCm39) |
T17M |
probably damaging |
Het |
| Ntrk1 |
A |
C |
3: 87,693,396 (GRCm39) |
D245E |
probably benign |
Het |
| Nup160 |
C |
A |
2: 90,563,545 (GRCm39) |
H1370Q |
possibly damaging |
Het |
| Or11h6 |
A |
C |
14: 50,880,703 (GRCm39) |
K316Q |
probably benign |
Het |
| Or5w8 |
T |
C |
2: 87,688,161 (GRCm39) |
V214A |
probably benign |
Het |
| Or6x1 |
T |
A |
9: 40,098,663 (GRCm39) |
V84E |
probably damaging |
Het |
| Parp4 |
G |
A |
14: 56,866,556 (GRCm39) |
R1040H |
probably benign |
Het |
| Pdia4 |
C |
A |
6: 47,785,200 (GRCm39) |
E56* |
probably null |
Het |
| Pdia5 |
A |
G |
16: 35,269,784 (GRCm39) |
F175S |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,242,956 (GRCm39) |
S621N |
probably benign |
Het |
| Pigw |
T |
C |
11: 84,768,643 (GRCm39) |
T229A |
possibly damaging |
Het |
| Rasa3 |
T |
C |
8: 13,626,381 (GRCm39) |
Y734C |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,500,505 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,633,181 (GRCm39) |
D178G |
possibly damaging |
Het |
| Ros1 |
A |
G |
10: 51,954,769 (GRCm39) |
V1853A |
possibly damaging |
Het |
| Rps7 |
A |
G |
12: 28,681,714 (GRCm39) |
I139T |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,029,708 (GRCm39) |
D15G |
possibly damaging |
Het |
| Scn1a |
A |
T |
2: 66,133,983 (GRCm39) |
V137D |
probably benign |
Het |
| Slc23a3 |
G |
A |
1: 75,106,173 (GRCm39) |
P349S |
probably benign |
Het |
| Slc35a5 |
C |
G |
16: 44,964,021 (GRCm39) |
R404P |
probably damaging |
Het |
| Stard13 |
A |
T |
5: 150,986,607 (GRCm39) |
M301K |
probably benign |
Het |
| Suclg2 |
A |
G |
6: 95,632,489 (GRCm39) |
F60S |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,904,668 (GRCm39) |
F887L |
possibly damaging |
Het |
| Tekt4 |
G |
T |
17: 25,691,033 (GRCm39) |
W113L |
probably damaging |
Het |
| Tep1 |
G |
A |
14: 51,085,080 (GRCm39) |
S901F |
probably damaging |
Het |
| Tex11 |
C |
T |
X: 100,059,191 (GRCm39) |
V190I |
possibly damaging |
Het |
| Thbs1 |
T |
A |
2: 117,949,957 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
A |
2: 153,040,295 (GRCm39) |
V425D |
probably damaging |
Het |
| Tpo |
A |
G |
12: 30,105,137 (GRCm39) |
L911P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,729,301 (GRCm39) |
Q5332R |
unknown |
Het |
| Wdr59 |
A |
T |
8: 112,223,466 (GRCm39) |
D169E |
|
Het |
| Zfp799 |
C |
A |
17: 33,039,166 (GRCm39) |
G367C |
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 |
|
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 |
|
|
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 |
|
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'- GAGCTCAACCGACTTACTGG -3'
(R):5'- GCCTAACAGAGAGTTTTCCATG -3'
Sequencing Primer
(F):5'- GAGCTCAACCGACTTACTGGTTATTC -3'
(R):5'- GGAAAAAGTTCATTATTCACCCAGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation