Incidental Mutation 'R0543:Cntn3'
| ID |
50053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn3
|
| Ensembl Gene |
ENSMUSG00000030075 |
| Gene Name |
contactin 3 |
| Synonyms |
Pang |
| MMRRC Submission |
038735-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0543 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 102246051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032159]
[ENSMUST00000203619]
|
| AlphaFold |
Q07409 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032159
|
| SMART Domains |
Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
| 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
|
| SMART Domains |
Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
| 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: 93.3%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
A |
6: 116,431,278 (GRCm39) |
|
probably null |
Het |
| Apol9b |
A |
G |
15: 77,619,840 (GRCm39) |
N212S |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,971,085 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
G |
A |
3: 37,050,607 (GRCm39) |
S2981N |
probably benign |
Het |
| Ccdc180 |
A |
T |
4: 45,900,041 (GRCm39) |
K200* |
probably null |
Het |
| Ccser2 |
A |
T |
14: 36,662,149 (GRCm39) |
M345K |
probably benign |
Het |
| Cdcp2 |
A |
T |
4: 106,954,873 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
C |
3: 144,454,155 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,075,326 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,244,325 (GRCm39) |
F1035S |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,473,920 (GRCm39) |
S998C |
probably damaging |
Het |
| Ecrg4 |
C |
A |
1: 43,781,449 (GRCm39) |
N110K |
possibly damaging |
Het |
| Enox1 |
T |
C |
14: 77,744,399 (GRCm39) |
|
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,887,054 (GRCm39) |
M1V |
probably null |
Het |
| Fuca2 |
T |
A |
10: 13,378,870 (GRCm39) |
Y5N |
probably damaging |
Het |
| Git2 |
G |
T |
5: 114,883,592 (GRCm39) |
H42Q |
probably damaging |
Het |
| Gm7964 |
G |
A |
7: 83,405,602 (GRCm39) |
|
noncoding transcript |
Het |
| Hars2 |
G |
A |
18: 36,922,477 (GRCm39) |
E337K |
probably damaging |
Het |
| Hells |
A |
G |
19: 38,956,194 (GRCm39) |
R797G |
probably benign |
Het |
| Hnf1a |
G |
A |
5: 115,088,803 (GRCm39) |
S571L |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,320 (GRCm39) |
Y4C |
probably damaging |
Het |
| Inpp4a |
G |
A |
1: 37,408,573 (GRCm39) |
|
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,934,060 (GRCm39) |
I816V |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,492,709 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
T |
A |
2: 79,474,850 (GRCm39) |
S270T |
possibly damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,537,352 (GRCm39) |
P1037T |
probably damaging |
Het |
| Lyg2 |
T |
A |
1: 37,950,188 (GRCm39) |
M47L |
possibly damaging |
Het |
| Macf1 |
G |
T |
4: 123,270,171 (GRCm39) |
A4648D |
probably damaging |
Het |
| Mcf2l |
T |
C |
8: 13,046,728 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
C |
T |
10: 53,417,694 (GRCm39) |
R3H |
probably damaging |
Het |
| Met |
T |
A |
6: 17,491,969 (GRCm39) |
Y244N |
probably damaging |
Het |
| Mettl14 |
A |
T |
3: 123,168,411 (GRCm39) |
C210S |
possibly damaging |
Het |
| Mrgpra4 |
T |
C |
7: 47,631,058 (GRCm39) |
Y181C |
probably benign |
Het |
| Mtch2 |
T |
C |
2: 90,680,026 (GRCm39) |
V86A |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,817,457 (GRCm39) |
I446N |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,577,120 (GRCm39) |
S2207T |
unknown |
Het |
| Muc5b |
A |
G |
7: 141,405,522 (GRCm39) |
T944A |
unknown |
Het |
| Myo15a |
A |
T |
11: 60,369,877 (GRCm39) |
H879L |
probably benign |
Het |
| Nherf4 |
A |
C |
9: 44,160,231 (GRCm39) |
H324Q |
probably damaging |
Het |
| Nkiras2 |
G |
A |
11: 100,515,018 (GRCm39) |
|
probably benign |
Het |
| Nostrin |
T |
G |
2: 69,019,475 (GRCm39) |
*507E |
probably null |
Het |
| Nup205 |
T |
C |
6: 35,175,904 (GRCm39) |
V589A |
probably benign |
Het |
| Or12j3 |
A |
G |
7: 139,953,307 (GRCm39) |
I72T |
probably benign |
Het |
| Or5b21 |
G |
T |
19: 12,839,252 (GRCm39) |
V38F |
probably benign |
Het |
| Or5w17 |
C |
A |
2: 87,583,994 (GRCm39) |
L114F |
probably damaging |
Het |
| Oxct2b |
T |
A |
4: 123,010,782 (GRCm39) |
M234K |
possibly damaging |
Het |
| Pcdha1 |
A |
T |
18: 37,318,121 (GRCm39) |
I945F |
probably damaging |
Het |
| Pik3ca |
G |
A |
3: 32,504,410 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,386,887 (GRCm39) |
|
probably null |
Het |
| Plscr1 |
A |
T |
9: 92,140,099 (GRCm39) |
|
probably null |
Het |
| Prkn |
G |
A |
17: 11,286,066 (GRCm39) |
D20N |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,307,956 (GRCm39) |
E684G |
possibly damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,213,199 (GRCm39) |
E870G |
probably damaging |
Het |
| Rpl22l1 |
C |
A |
3: 28,861,423 (GRCm39) |
Y103* |
probably null |
Het |
| Semp2l2b |
T |
C |
10: 21,942,823 (GRCm39) |
S386G |
possibly damaging |
Het |
| Slc38a4 |
A |
T |
15: 96,914,720 (GRCm39) |
N44K |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,623 (GRCm39) |
I93F |
probably damaging |
Het |
| Strip1 |
G |
A |
3: 107,534,091 (GRCm39) |
T181M |
possibly damaging |
Het |
| Stxbp5l |
G |
A |
16: 37,028,458 (GRCm39) |
A535V |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,601,446 (GRCm39) |
Q152L |
probably benign |
Het |
| Thada |
T |
C |
17: 84,730,591 (GRCm39) |
T1036A |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,991,856 (GRCm39) |
T941S |
probably benign |
Het |
| Tppp3 |
T |
C |
8: 106,194,840 (GRCm39) |
D97G |
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,690,449 (GRCm39) |
I210V |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,711,574 (GRCm39) |
L1440P |
probably damaging |
Het |
| Utp18 |
A |
T |
11: 93,766,661 (GRCm39) |
Y317N |
probably damaging |
Het |
| Zdhhc5 |
T |
A |
2: 84,522,824 (GRCm39) |
|
probably benign |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- AAGGACAACCTTGCCTGTCTCTCC -3'
(R):5'- ACTTGGGAAAGTAATGTCTGTACCTGC -3'
Sequencing Primer
(F):5'- AATGTCTTTCACTGTCAGCTCtcc -3'
(R):5'- GTAATGTCTGTACCTGCATTAGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation