Incidental Mutation 'IGL03144:Pcdhb6'
| ID |
410801 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdhb6
|
| Ensembl Gene |
ENSMUSG00000051678 |
| Gene Name |
protocadherin beta 6 |
| Synonyms |
Pcdhb5B, PcdhbF |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL03144
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37466913-37470491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37467459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 127
(N127D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000194655]
|
| AlphaFold |
Q91XZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061717
AA Change: N127D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: N127D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
30 |
112 |
2.7e-33 |
PFAM |
|
CA
|
155 |
240 |
1.48e-22 |
SMART |
|
CA
|
264 |
344 |
3.02e-28 |
SMART |
|
CA
|
367 |
448 |
1.69e-22 |
SMART |
|
CA
|
472 |
558 |
1.65e-25 |
SMART |
|
CA
|
588 |
669 |
6.24e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.7e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194655
|
| SMART Domains |
Protein: ENSMUSP00000141773
Gene: ENSMUSG00000051678
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
1 |
60 |
2e-11 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
A |
17: 24,600,938 (GRCm39) |
Q451K |
probably benign |
Het |
| Acly |
A |
T |
11: 100,405,909 (GRCm39) |
D294E |
possibly damaging |
Het |
| Arid3a |
C |
T |
10: 79,782,316 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,643,539 (GRCm39) |
V1830A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,735,333 (GRCm39) |
V467A |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,736,327 (GRCm39) |
I1233L |
probably damaging |
Het |
| Ccdc74a |
C |
A |
16: 17,466,730 (GRCm39) |
Q146K |
possibly damaging |
Het |
| Cdh26 |
A |
G |
2: 178,109,967 (GRCm39) |
D420G |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,444 (GRCm39) |
V145A |
possibly damaging |
Het |
| Cmya5 |
C |
A |
13: 93,227,376 (GRCm39) |
A2571S |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,267,763 (GRCm39) |
S360P |
probably damaging |
Het |
| Col26a1 |
G |
T |
5: 136,794,202 (GRCm39) |
T132N |
probably damaging |
Het |
| Col6a2 |
T |
A |
10: 76,450,259 (GRCm39) |
H224L |
probably benign |
Het |
| Cpm |
C |
T |
10: 117,519,319 (GRCm39) |
S409L |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,742,906 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
T |
A |
9: 24,557,603 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Exosc9 |
G |
A |
3: 36,608,284 (GRCm39) |
G126D |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,420,453 (GRCm39) |
S256P |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,286,541 (GRCm39) |
D994G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,011,008 (GRCm39) |
Q2036R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,258,798 (GRCm39) |
Q662R |
probably null |
Het |
| Gm13271 |
A |
G |
4: 88,673,636 (GRCm39) |
R178G |
probably benign |
Het |
| Gpr165 |
T |
A |
X: 95,760,560 (GRCm39) |
L279Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,780,112 (GRCm39) |
L328P |
probably damaging |
Het |
| Klhl26 |
C |
T |
8: 70,905,214 (GRCm39) |
R198H |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,123,115 (GRCm39) |
R973G |
possibly damaging |
Het |
| Nmi |
A |
T |
2: 51,842,546 (GRCm39) |
F182Y |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,475 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Ooep |
G |
T |
9: 78,285,289 (GRCm39) |
A109E |
possibly damaging |
Het |
| Or1j21 |
A |
G |
2: 36,684,093 (GRCm39) |
T282A |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,387,591 (GRCm39) |
|
probably benign |
Het |
| Rabgap1 |
G |
A |
2: 37,430,544 (GRCm39) |
R695H |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,426,327 (GRCm39) |
G3R |
possibly damaging |
Het |
| Slc17a3 |
T |
C |
13: 24,030,423 (GRCm39) |
M178T |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,589,971 (GRCm39) |
E287G |
probably benign |
Het |
| Slc44a5 |
G |
T |
3: 153,949,177 (GRCm39) |
D217Y |
possibly damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,080,810 (GRCm39) |
V346L |
probably benign |
Het |
| Slc9a4 |
T |
C |
1: 40,651,362 (GRCm39) |
Y547H |
probably damaging |
Het |
| St6galnac3 |
A |
C |
3: 152,911,164 (GRCm39) |
Y266D |
probably damaging |
Het |
| Stard6 |
A |
T |
18: 70,609,182 (GRCm39) |
Y3F |
possibly damaging |
Het |
| Stk25 |
C |
A |
1: 93,556,858 (GRCm39) |
L53F |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,081,474 (GRCm39) |
|
probably benign |
Het |
| Tmem151a |
T |
A |
19: 5,135,400 (GRCm39) |
M1L |
probably benign |
Het |
| Trim10 |
T |
C |
17: 37,187,740 (GRCm39) |
S319P |
probably damaging |
Het |
| Trmt44 |
G |
T |
5: 35,721,766 (GRCm39) |
P466T |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,008,401 (GRCm39) |
I256T |
probably damaging |
Het |
| Vmn2r125 |
G |
T |
4: 156,702,314 (GRCm39) |
L33F |
possibly damaging |
Het |
|
| Other mutations in Pcdhb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Pcdhb6
|
APN |
18 |
37,467,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Pcdhb6
|
APN |
18 |
37,468,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02491:Pcdhb6
|
APN |
18 |
37,468,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02496:Pcdhb6
|
APN |
18 |
37,468,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Pcdhb6
|
APN |
18 |
37,467,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03130:Pcdhb6
|
APN |
18 |
37,468,640 (GRCm39) |
nonsense |
probably null |
|
|
IGL03189:Pcdhb6
|
APN |
18 |
37,469,205 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03203:Pcdhb6
|
APN |
18 |
37,467,585 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03388:Pcdhb6
|
APN |
18 |
37,469,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4445001:Pcdhb6
|
UTSW |
18 |
37,468,300 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0571:Pcdhb6
|
UTSW |
18 |
37,468,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0734:Pcdhb6
|
UTSW |
18 |
37,468,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1727:Pcdhb6
|
UTSW |
18 |
37,467,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Pcdhb6
|
UTSW |
18 |
37,468,633 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2207:Pcdhb6
|
UTSW |
18 |
37,468,633 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2303:Pcdhb6
|
UTSW |
18 |
37,469,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2401:Pcdhb6
|
UTSW |
18 |
37,468,222 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3409:Pcdhb6
|
UTSW |
18 |
37,468,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3411:Pcdhb6
|
UTSW |
18 |
37,468,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3625:Pcdhb6
|
UTSW |
18 |
37,469,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Pcdhb6
|
UTSW |
18 |
37,469,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4745:Pcdhb6
|
UTSW |
18 |
37,468,426 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4821:Pcdhb6
|
UTSW |
18 |
37,467,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5218:Pcdhb6
|
UTSW |
18 |
37,467,388 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5465:Pcdhb6
|
UTSW |
18 |
37,467,783 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5522:Pcdhb6
|
UTSW |
18 |
37,467,402 (GRCm39) |
missense |
probably benign |
|
|
R5556:Pcdhb6
|
UTSW |
18 |
37,467,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5703:Pcdhb6
|
UTSW |
18 |
37,467,753 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6154:Pcdhb6
|
UTSW |
18 |
37,467,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6256:Pcdhb6
|
UTSW |
18 |
37,468,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6304:Pcdhb6
|
UTSW |
18 |
37,468,974 (GRCm39) |
nonsense |
probably null |
|
|
R6528:Pcdhb6
|
UTSW |
18 |
37,467,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6883:Pcdhb6
|
UTSW |
18 |
37,468,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Pcdhb6
|
UTSW |
18 |
37,469,329 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7307:Pcdhb6
|
UTSW |
18 |
37,468,531 (GRCm39) |
missense |
probably benign |
|
|
R7313:Pcdhb6
|
UTSW |
18 |
37,468,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7378:Pcdhb6
|
UTSW |
18 |
37,468,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Pcdhb6
|
UTSW |
18 |
37,468,332 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7606:Pcdhb6
|
UTSW |
18 |
37,468,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7701:Pcdhb6
|
UTSW |
18 |
37,467,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Pcdhb6
|
UTSW |
18 |
37,469,365 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7905:Pcdhb6
|
UTSW |
18 |
37,467,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7982:Pcdhb6
|
UTSW |
18 |
37,467,273 (GRCm39) |
nonsense |
probably null |
|
|
R8818:Pcdhb6
|
UTSW |
18 |
37,468,837 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8917:Pcdhb6
|
UTSW |
18 |
37,468,431 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9397:Pcdhb6
|
UTSW |
18 |
37,469,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Pcdhb6
|
UTSW |
18 |
37,468,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation