Incidental Mutation 'R1640:Cntn3'
ID |
173457 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn3
|
Ensembl Gene |
ENSMUSG00000030075 |
Gene Name |
contactin 3 |
Synonyms |
Pang |
MMRRC Submission |
039676-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1640 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 102218974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 549
(S549T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145176
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032159]
[ENSMUST00000203619]
|
AlphaFold |
Q07409 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032159
AA Change: S549T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000032159 Gene: ENSMUSG00000030075 AA Change: S549T
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 |
possibly damaging
Transcript: ENSMUST00000203619
AA Change: S549T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000145176 Gene: ENSMUSG00000030075 AA Change: S549T
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: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
C |
A |
8: 125,566,584 (GRCm39) |
V279L |
probably damaging |
Het |
Acot6 |
A |
T |
12: 84,147,900 (GRCm39) |
Y52F |
probably damaging |
Het |
Adam22 |
C |
T |
5: 8,195,689 (GRCm39) |
V284I |
probably damaging |
Het |
Agl |
A |
T |
3: 116,545,739 (GRCm39) |
H1352Q |
probably benign |
Het |
Aldh18a1 |
G |
A |
19: 40,573,943 (GRCm39) |
P27S |
probably benign |
Het |
C1ra |
A |
G |
6: 124,499,233 (GRCm39) |
N473S |
probably benign |
Het |
C87436 |
T |
C |
6: 86,423,233 (GRCm39) |
L269P |
probably damaging |
Het |
Calcrl |
A |
G |
2: 84,164,021 (GRCm39) |
V390A |
probably damaging |
Het |
Ccp110 |
T |
G |
7: 118,314,751 (GRCm39) |
|
probably null |
Het |
Cerk |
A |
G |
15: 86,033,601 (GRCm39) |
V274A |
probably damaging |
Het |
Chd1l |
A |
T |
3: 97,488,307 (GRCm39) |
S570T |
probably benign |
Het |
Chst14 |
T |
A |
2: 118,757,379 (GRCm39) |
W83R |
probably damaging |
Het |
Chsy1 |
A |
T |
7: 65,821,262 (GRCm39) |
D499V |
probably benign |
Het |
Ckmt1 |
C |
A |
2: 121,190,198 (GRCm39) |
|
probably null |
Het |
Cnot1 |
A |
T |
8: 96,496,460 (GRCm39) |
V282D |
probably damaging |
Het |
Cntnap5c |
A |
T |
17: 58,702,289 (GRCm39) |
D1203V |
probably benign |
Het |
Col4a4 |
A |
G |
1: 82,513,491 (GRCm39) |
Y169H |
unknown |
Het |
Cwc22 |
A |
G |
2: 77,745,874 (GRCm39) |
F454S |
possibly damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dhrs7 |
A |
T |
12: 72,699,089 (GRCm39) |
W298R |
possibly damaging |
Het |
Dock7 |
G |
T |
4: 98,833,483 (GRCm39) |
T1906N |
probably damaging |
Het |
Dpy19l3 |
T |
C |
7: 35,449,203 (GRCm39) |
T67A |
probably benign |
Het |
Drc1 |
A |
G |
5: 30,521,301 (GRCm39) |
D654G |
possibly damaging |
Het |
Ech1 |
A |
T |
7: 28,531,264 (GRCm39) |
H284L |
probably damaging |
Het |
Epc1 |
G |
A |
18: 6,441,175 (GRCm39) |
Q8* |
probably null |
Het |
Etv5 |
A |
T |
16: 22,254,664 (GRCm39) |
D65E |
probably damaging |
Het |
F2rl3 |
A |
G |
8: 73,489,534 (GRCm39) |
R254G |
probably benign |
Het |
Fabp5 |
T |
G |
3: 10,080,170 (GRCm39) |
F73L |
probably benign |
Het |
Fbrs |
T |
C |
7: 127,086,483 (GRCm39) |
I611T |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,433,806 (GRCm39) |
S117P |
possibly damaging |
Het |
Frmd4b |
A |
C |
6: 97,285,634 (GRCm39) |
S291A |
possibly damaging |
Het |
Galnt13 |
A |
G |
2: 54,950,558 (GRCm39) |
Y413C |
probably damaging |
Het |
Gfer |
A |
G |
17: 24,914,337 (GRCm39) |
Y109H |
possibly damaging |
Het |
Gli2 |
T |
C |
1: 118,764,254 (GRCm39) |
H1299R |
possibly damaging |
Het |
Gm10110 |
T |
C |
14: 90,135,679 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5a |
T |
G |
6: 135,055,652 (GRCm39) |
L33W |
probably damaging |
Het |
Grin3a |
T |
C |
4: 49,844,721 (GRCm39) |
T121A |
probably benign |
Het |
Grk3 |
A |
G |
5: 113,163,248 (GRCm39) |
V33A |
probably benign |
Het |
Hc |
A |
T |
2: 34,947,336 (GRCm39) |
Y59* |
probably null |
Het |
Hrnr |
A |
G |
3: 93,239,823 (GRCm39) |
I3354V |
unknown |
Het |
Hyou1 |
C |
G |
9: 44,300,703 (GRCm39) |
T924S |
probably benign |
Het |
Ifi209 |
T |
G |
1: 173,464,931 (GRCm39) |
H20Q |
probably damaging |
Het |
Ifi44 |
A |
G |
3: 151,438,171 (GRCm39) |
V372A |
probably benign |
Het |
Igdcc4 |
T |
A |
9: 65,030,077 (GRCm39) |
L328H |
probably damaging |
Het |
Jkampl |
A |
G |
6: 73,445,869 (GRCm39) |
Y227H |
probably benign |
Het |
Kif18a |
A |
G |
2: 109,120,161 (GRCm39) |
T155A |
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,742,938 (GRCm39) |
|
probably benign |
Het |
Kri1 |
T |
C |
9: 21,191,753 (GRCm39) |
D281G |
possibly damaging |
Het |
Larp1b |
T |
A |
3: 40,988,507 (GRCm39) |
M1K |
probably null |
Het |
Loxhd1 |
A |
G |
18: 77,490,259 (GRCm39) |
D1225G |
probably damaging |
Het |
Mzf1 |
A |
G |
7: 12,777,197 (GRCm39) |
*736Q |
probably null |
Het |
Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
Ncf2 |
T |
A |
1: 152,683,784 (GRCm39) |
M1K |
probably null |
Het |
Or5t15 |
T |
A |
2: 86,681,571 (GRCm39) |
H157L |
probably benign |
Het |
Or8h10 |
A |
C |
2: 86,808,963 (GRCm39) |
M59R |
probably damaging |
Het |
Parp12 |
T |
C |
6: 39,073,574 (GRCm39) |
D417G |
probably benign |
Het |
Parp12 |
T |
C |
6: 39,088,612 (GRCm39) |
H208R |
probably damaging |
Het |
Pcif1 |
T |
C |
2: 164,727,603 (GRCm39) |
I132T |
probably benign |
Het |
Pck2 |
A |
G |
14: 55,786,041 (GRCm39) |
D610G |
possibly damaging |
Het |
Plbd1 |
T |
C |
6: 136,617,123 (GRCm39) |
K185E |
probably benign |
Het |
Ppp2r5a |
T |
C |
1: 191,086,126 (GRCm39) |
M425V |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,548,231 (GRCm39) |
V805D |
probably damaging |
Het |
Rprd2 |
C |
T |
3: 95,671,059 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,731,178 (GRCm39) |
S711P |
probably damaging |
Het |
Slc17a3 |
T |
A |
13: 24,036,340 (GRCm39) |
L212* |
probably null |
Het |
Slc4a8 |
A |
G |
15: 100,681,668 (GRCm39) |
D41G |
probably benign |
Het |
Slc9a3 |
T |
A |
13: 74,306,937 (GRCm39) |
V354E |
probably damaging |
Het |
Spen |
A |
G |
4: 141,196,254 (GRCm39) |
I3632T |
probably damaging |
Het |
Tesc |
A |
G |
5: 118,192,914 (GRCm39) |
S77G |
probably benign |
Het |
Tet3 |
A |
T |
6: 83,346,297 (GRCm39) |
V1245D |
probably benign |
Het |
Tox4 |
T |
A |
14: 52,530,000 (GRCm39) |
D553E |
possibly damaging |
Het |
Tpmt |
A |
T |
13: 47,180,759 (GRCm39) |
Y193* |
probably null |
Het |
Trio |
T |
C |
15: 27,833,130 (GRCm39) |
Y1169C |
probably damaging |
Het |
Urb1 |
G |
A |
16: 90,569,514 (GRCm39) |
T1404I |
probably benign |
Het |
Usp47 |
T |
C |
7: 111,682,334 (GRCm39) |
S540P |
probably damaging |
Het |
Vmn1r178 |
A |
T |
7: 23,593,548 (GRCm39) |
M126L |
possibly damaging |
Het |
Vmn1r223 |
T |
C |
13: 23,434,348 (GRCm39) |
F314S |
probably damaging |
Het |
Vmn2r112 |
A |
T |
17: 22,824,097 (GRCm39) |
I451L |
probably benign |
Het |
Zfc3h1 |
A |
G |
10: 115,242,806 (GRCm39) |
|
probably null |
Het |
Zfp503 |
A |
T |
14: 22,034,969 (GRCm39) |
L649Q |
probably damaging |
Het |
Zfp977 |
A |
C |
7: 42,229,530 (GRCm39) |
C332G |
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 |
|
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'- GGCCTTGAAGCTCCACTACCAATTC -3'
(R):5'- TGTACACATGCCTACGCCAACATTC -3'
Sequencing Primer
(F):5'- GAATCTTACAGCTAATGCCCAGTG -3'
(R):5'- GCTTGCATCAACGTTCAAGTTTTG -3'
|
Posted On |
2014-04-24 |