Incidental Mutation 'IGL03025:Pcdhb4'
| ID |
408121 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdhb4
|
| Ensembl Gene |
ENSMUSG00000045689 |
| Gene Name |
protocadherin beta 4 |
| Synonyms |
PcdhbD, Pcdhb5A |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL03025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37440508-37444225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37443030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 780
(Y780F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056712]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XZ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056712
AA Change: Y780F
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: Y780F
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
54 |
131 |
1.66e0 |
SMART |
|
CA
|
155 |
240 |
1.07e-19 |
SMART |
|
CA
|
264 |
344 |
6.03e-28 |
SMART |
|
CA
|
367 |
448 |
2.57e-22 |
SMART |
|
CA
|
472 |
558 |
3.36e-26 |
SMART |
|
CA
|
588 |
669 |
3.48e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
1e-25 |
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 |
noncoding transcript
Transcript: ENSMUST00000193025
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,315,405 (GRCm39) |
N91S |
possibly damaging |
Het |
| Adora1 |
T |
C |
1: 134,130,807 (GRCm39) |
Y288C |
probably damaging |
Het |
| Avil |
A |
T |
10: 126,849,446 (GRCm39) |
T581S |
probably benign |
Het |
| Cacna1h |
C |
T |
17: 25,651,868 (GRCm39) |
W92* |
probably null |
Het |
| Calr3 |
A |
C |
8: 73,188,735 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,561,222 (GRCm39) |
E181G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
| Cnga1 |
T |
A |
5: 72,762,756 (GRCm39) |
I253F |
probably benign |
Het |
| Cngb3 |
T |
G |
4: 19,283,498 (GRCm39) |
|
probably benign |
Het |
| Cstf3 |
T |
A |
2: 104,439,276 (GRCm39) |
Y30N |
possibly damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,730,631 (GRCm39) |
S199T |
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,624,545 (GRCm39) |
I412V |
probably benign |
Het |
| Fasn |
C |
T |
11: 120,708,974 (GRCm39) |
V570M |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
| Frmd5 |
T |
A |
2: 121,383,825 (GRCm39) |
M369L |
probably benign |
Het |
| Ftdc2 |
A |
C |
16: 58,458,076 (GRCm39) |
I75S |
probably damaging |
Het |
| Gatb |
T |
C |
3: 85,483,181 (GRCm39) |
W63R |
probably damaging |
Het |
| Gga1 |
G |
T |
15: 78,772,382 (GRCm39) |
L227F |
probably damaging |
Het |
| Itgb1 |
A |
G |
8: 129,449,065 (GRCm39) |
N557S |
possibly damaging |
Het |
| Ltf |
T |
C |
9: 110,854,169 (GRCm39) |
V328A |
possibly damaging |
Het |
| Nefh |
T |
C |
11: 4,895,289 (GRCm39) |
E300G |
probably damaging |
Het |
| Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
| Or1m1 |
T |
C |
9: 18,666,665 (GRCm39) |
N89D |
probably benign |
Het |
| Pcdhb13 |
T |
G |
18: 37,575,817 (GRCm39) |
V65G |
probably damaging |
Het |
| Plcd3 |
C |
T |
11: 102,965,724 (GRCm39) |
E503K |
probably benign |
Het |
| Rbm6 |
T |
A |
9: 107,651,918 (GRCm39) |
D903V |
possibly damaging |
Het |
| Rnf133 |
A |
G |
6: 23,649,134 (GRCm39) |
M265T |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,173,848 (GRCm39) |
T1775A |
probably damaging |
Het |
| Serpina1f |
T |
A |
12: 103,659,805 (GRCm39) |
D159V |
probably damaging |
Het |
| Skap1 |
C |
A |
11: 96,593,508 (GRCm39) |
S118R |
probably damaging |
Het |
| Slc17a9 |
C |
A |
2: 180,381,609 (GRCm39) |
|
probably null |
Het |
| Slc30a5 |
A |
G |
13: 100,950,395 (GRCm39) |
S231P |
probably damaging |
Het |
| Stac2 |
A |
G |
11: 97,934,548 (GRCm39) |
F52S |
probably damaging |
Het |
| Them7 |
T |
C |
2: 105,128,150 (GRCm39) |
S44P |
probably benign |
Het |
| Tnmd |
A |
G |
X: 132,766,162 (GRCm39) |
|
probably benign |
Het |
| Trdmt1 |
A |
T |
2: 13,528,246 (GRCm39) |
I105N |
probably damaging |
Het |
| Trpc1 |
C |
T |
9: 95,592,313 (GRCm39) |
G554E |
probably damaging |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,740 (GRCm39) |
Y85C |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,685,058 (GRCm39) |
T131A |
probably benign |
Het |
|
| Other mutations in Pcdhb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Pcdhb4
|
APN |
18 |
37,442,969 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01319:Pcdhb4
|
APN |
18 |
37,441,566 (GRCm39) |
missense |
probably benign |
|
|
IGL01325:Pcdhb4
|
APN |
18 |
37,442,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Pcdhb4
|
APN |
18 |
37,441,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01808:Pcdhb4
|
APN |
18 |
37,442,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01962:Pcdhb4
|
APN |
18 |
37,442,057 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02280:Pcdhb4
|
APN |
18 |
37,440,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02622:Pcdhb4
|
APN |
18 |
37,442,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03137:Pcdhb4
|
APN |
18 |
37,441,569 (GRCm39) |
missense |
probably damaging |
0.98 |
|
P0031:Pcdhb4
|
UTSW |
18 |
37,441,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Pcdhb4
|
UTSW |
18 |
37,442,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Pcdhb4
|
UTSW |
18 |
37,441,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Pcdhb4
|
UTSW |
18 |
37,440,795 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0738:Pcdhb4
|
UTSW |
18 |
37,441,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0853:Pcdhb4
|
UTSW |
18 |
37,442,938 (GRCm39) |
nonsense |
probably null |
|
|
R0893:Pcdhb4
|
UTSW |
18 |
37,442,423 (GRCm39) |
splice site |
probably null |
|
|
R1932:Pcdhb4
|
UTSW |
18 |
37,442,594 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1945:Pcdhb4
|
UTSW |
18 |
37,441,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2194:Pcdhb4
|
UTSW |
18 |
37,441,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:Pcdhb4
|
UTSW |
18 |
37,441,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3807:Pcdhb4
|
UTSW |
18 |
37,442,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3815:Pcdhb4
|
UTSW |
18 |
37,441,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3816:Pcdhb4
|
UTSW |
18 |
37,441,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Pcdhb4
|
UTSW |
18 |
37,441,901 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4558:Pcdhb4
|
UTSW |
18 |
37,443,017 (GRCm39) |
missense |
probably benign |
|
|
R4606:Pcdhb4
|
UTSW |
18 |
37,441,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Pcdhb4
|
UTSW |
18 |
37,441,553 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4840:Pcdhb4
|
UTSW |
18 |
37,441,452 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5240:Pcdhb4
|
UTSW |
18 |
37,442,979 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5272:Pcdhb4
|
UTSW |
18 |
37,440,819 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5586:Pcdhb4
|
UTSW |
18 |
37,442,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5683:Pcdhb4
|
UTSW |
18 |
37,442,042 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5917:Pcdhb4
|
UTSW |
18 |
37,442,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Pcdhb4
|
UTSW |
18 |
37,441,482 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6383:Pcdhb4
|
UTSW |
18 |
37,441,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Pcdhb4
|
UTSW |
18 |
37,442,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Pcdhb4
|
UTSW |
18 |
37,441,835 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7204:Pcdhb4
|
UTSW |
18 |
37,442,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7271:Pcdhb4
|
UTSW |
18 |
37,441,222 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7436:Pcdhb4
|
UTSW |
18 |
37,442,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7444:Pcdhb4
|
UTSW |
18 |
37,442,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7614:Pcdhb4
|
UTSW |
18 |
37,442,602 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7650:Pcdhb4
|
UTSW |
18 |
37,442,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Pcdhb4
|
UTSW |
18 |
37,442,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Pcdhb4
|
UTSW |
18 |
37,442,349 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8087:Pcdhb4
|
UTSW |
18 |
37,441,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Pcdhb4
|
UTSW |
18 |
37,442,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8697:Pcdhb4
|
UTSW |
18 |
37,441,832 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8815:Pcdhb4
|
UTSW |
18 |
37,442,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9008:Pcdhb4
|
UTSW |
18 |
37,440,714 (GRCm39) |
missense |
probably benign |
|
|
R9225:Pcdhb4
|
UTSW |
18 |
37,441,695 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9278:Pcdhb4
|
UTSW |
18 |
37,441,925 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9299:Pcdhb4
|
UTSW |
18 |
37,442,264 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9390:Pcdhb4
|
UTSW |
18 |
37,442,781 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9582:Pcdhb4
|
UTSW |
18 |
37,441,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Pcdhb4
|
UTSW |
18 |
37,442,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9721:Pcdhb4
|
UTSW |
18 |
37,442,905 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1177:Pcdhb4
|
UTSW |
18 |
37,442,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation