Incidental Mutation 'IGL01977:Pcdhb11'
| ID |
181703 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
PcdhbK, Pcdhb5E |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL01977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37555344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 225
(T225A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053073]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91UZ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053073
AA Change: T225A
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: T225A
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
54 |
131 |
3.51e-1 |
SMART |
|
CA
|
155 |
240 |
4.11e-21 |
SMART |
|
CA
|
264 |
344 |
6.37e-27 |
SMART |
|
CA
|
367 |
448 |
4.79e-22 |
SMART |
|
CA
|
472 |
558 |
7.31e-27 |
SMART |
|
CA
|
588 |
669 |
2.46e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
686 |
769 |
3.4e-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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,841,986 (GRCm39) |
S1040T |
probably benign |
Het |
| Adam25 |
T |
C |
8: 41,208,134 (GRCm39) |
Y467H |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,605,449 (GRCm39) |
I1061V |
probably benign |
Het |
| Anxa10 |
T |
C |
8: 62,529,348 (GRCm39) |
E123G |
probably damaging |
Het |
| Arhgap35 |
G |
A |
7: 16,297,128 (GRCm39) |
L646F |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,320,590 (GRCm39) |
|
probably null |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,730,993 (GRCm39) |
T87A |
probably damaging |
Het |
| Ccdc172 |
A |
G |
19: 58,541,309 (GRCm39) |
D256G |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,787,714 (GRCm39) |
A1375T |
probably benign |
Het |
| Chrdl2 |
A |
T |
7: 99,671,263 (GRCm39) |
Q127L |
probably benign |
Het |
| Cyp2c29 |
T |
C |
19: 39,279,341 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
C |
A |
9: 6,266,226 (GRCm39) |
V48F |
probably benign |
Het |
| Ddrgk1 |
C |
T |
2: 130,497,166 (GRCm39) |
|
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,524,932 (GRCm39) |
V626I |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 92,001,543 (GRCm39) |
T755A |
probably benign |
Het |
| Fpgt |
G |
T |
3: 154,793,655 (GRCm39) |
T124K |
probably damaging |
Het |
| Gnl2 |
G |
A |
4: 124,941,405 (GRCm39) |
|
probably null |
Het |
| Got1 |
A |
T |
19: 43,504,284 (GRCm39) |
S46T |
probably benign |
Het |
| Hbb-bt |
G |
T |
7: 103,463,070 (GRCm39) |
H3N |
probably benign |
Het |
| Ikbke |
C |
T |
1: 131,199,838 (GRCm39) |
|
probably benign |
Het |
| Il2rb |
A |
G |
15: 78,365,897 (GRCm39) |
S467P |
probably benign |
Het |
| Kcnma1 |
A |
G |
14: 23,580,367 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,876,973 (GRCm39) |
N391D |
probably damaging |
Het |
| Npr3 |
A |
T |
15: 11,858,804 (GRCm39) |
I360N |
probably damaging |
Het |
| Nradd |
G |
A |
9: 110,451,237 (GRCm39) |
P44S |
possibly damaging |
Het |
| Or5m10 |
G |
T |
2: 85,717,711 (GRCm39) |
C189F |
probably damaging |
Het |
| Or7h8 |
G |
A |
9: 20,123,755 (GRCm39) |
V37I |
possibly damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,770,537 (GRCm39) |
E1005G |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
| Pon3 |
T |
C |
6: 5,221,670 (GRCm39) |
Y320C |
probably damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,990,261 (GRCm39) |
D70G |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,260,472 (GRCm39) |
T218S |
probably benign |
Het |
| Proz |
G |
T |
8: 13,116,913 (GRCm39) |
G155V |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,286,977 (GRCm39) |
E392G |
possibly damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,999,220 (GRCm39) |
R976* |
probably null |
Het |
| Shisa2 |
G |
A |
14: 59,867,435 (GRCm39) |
C229Y |
probably damaging |
Het |
| Slc2a5 |
T |
C |
4: 150,226,675 (GRCm39) |
V379A |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,197 (GRCm39) |
K47N |
probably damaging |
Het |
| Sult2a6 |
G |
A |
7: 13,987,411 (GRCm39) |
T88I |
probably benign |
Het |
| Tbc1d14 |
T |
C |
5: 36,662,381 (GRCm39) |
Y302C |
probably damaging |
Het |
| Thumpd3 |
C |
A |
6: 113,036,927 (GRCm39) |
N275K |
possibly damaging |
Het |
| Tnks2 |
T |
C |
19: 36,849,990 (GRCm39) |
|
probably null |
Het |
| Tube1 |
G |
A |
10: 39,011,041 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
T |
A |
17: 31,192,742 (GRCm39) |
Y290N |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,402,661 (GRCm39) |
E726K |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,229,935 (GRCm39) |
D59V |
probably benign |
Het |
| Vps11 |
T |
A |
9: 44,267,516 (GRCm39) |
|
probably benign |
Het |
| Wdr19 |
T |
C |
5: 65,385,912 (GRCm39) |
Y631H |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,957,526 (GRCm39) |
H88Y |
probably damaging |
Het |
| Wdr93 |
A |
T |
7: 79,402,253 (GRCm39) |
N184I |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,156,240 (GRCm39) |
F473Y |
probably damaging |
Het |
| Zbtb16 |
A |
G |
9: 48,568,483 (GRCm39) |
W661R |
probably damaging |
Het |
|
| Other mutations in Pcdhb11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Pcdhb11
|
APN |
18 |
37,555,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00906:Pcdhb11
|
APN |
18 |
37,555,174 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01610:Pcdhb11
|
APN |
18 |
37,556,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01973:Pcdhb11
|
APN |
18 |
37,556,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02164:Pcdhb11
|
APN |
18 |
37,556,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02282:Pcdhb11
|
APN |
18 |
37,556,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02674:Pcdhb11
|
APN |
18 |
37,556,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Pcdhb11
|
APN |
18 |
37,557,021 (GRCm39) |
missense |
probably benign |
|
|
IGL03197:Pcdhb11
|
APN |
18 |
37,555,477 (GRCm39) |
nonsense |
probably null |
|
|
1mM(1):Pcdhb11
|
UTSW |
18 |
37,557,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0001:Pcdhb11
|
UTSW |
18 |
37,557,042 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0383:Pcdhb11
|
UTSW |
18 |
37,556,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Pcdhb11
|
UTSW |
18 |
37,555,533 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0422:Pcdhb11
|
UTSW |
18 |
37,554,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Pcdhb11
|
UTSW |
18 |
37,555,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Pcdhb11
|
UTSW |
18 |
37,556,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Pcdhb11
|
UTSW |
18 |
37,554,864 (GRCm39) |
nonsense |
probably null |
|
|
R1014:Pcdhb11
|
UTSW |
18 |
37,556,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1277:Pcdhb11
|
UTSW |
18 |
37,554,769 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2034:Pcdhb11
|
UTSW |
18 |
37,555,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2142:Pcdhb11
|
UTSW |
18 |
37,555,176 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2496:Pcdhb11
|
UTSW |
18 |
37,555,375 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3077:Pcdhb11
|
UTSW |
18 |
37,555,297 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4560:Pcdhb11
|
UTSW |
18 |
37,556,787 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4590:Pcdhb11
|
UTSW |
18 |
37,555,549 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4642:Pcdhb11
|
UTSW |
18 |
37,555,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4729:Pcdhb11
|
UTSW |
18 |
37,555,419 (GRCm39) |
nonsense |
probably null |
|
|
R5012:Pcdhb11
|
UTSW |
18 |
37,556,029 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5364:Pcdhb11
|
UTSW |
18 |
37,555,232 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5910:Pcdhb11
|
UTSW |
18 |
37,556,796 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6023:Pcdhb11
|
UTSW |
18 |
37,555,978 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6106:Pcdhb11
|
UTSW |
18 |
37,556,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Pcdhb11
|
UTSW |
18 |
37,554,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6276:Pcdhb11
|
UTSW |
18 |
37,554,813 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6360:Pcdhb11
|
UTSW |
18 |
37,555,212 (GRCm39) |
missense |
probably benign |
|
|
R6699:Pcdhb11
|
UTSW |
18 |
37,555,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6732:Pcdhb11
|
UTSW |
18 |
37,555,197 (GRCm39) |
missense |
probably benign |
|
|
R6760:Pcdhb11
|
UTSW |
18 |
37,554,637 (GRCm39) |
intron |
probably benign |
|
|
R6916:Pcdhb11
|
UTSW |
18 |
37,555,434 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7130:Pcdhb11
|
UTSW |
18 |
37,556,559 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7267:Pcdhb11
|
UTSW |
18 |
37,555,006 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7426:Pcdhb11
|
UTSW |
18 |
37,556,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7444:Pcdhb11
|
UTSW |
18 |
37,555,672 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7492:Pcdhb11
|
UTSW |
18 |
37,556,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7504:Pcdhb11
|
UTSW |
18 |
37,554,852 (GRCm39) |
missense |
probably benign |
|
|
R7537:Pcdhb11
|
UTSW |
18 |
37,554,672 (GRCm39) |
start codon destroyed |
possibly damaging |
0.88 |
|
R7728:Pcdhb11
|
UTSW |
18 |
37,556,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Pcdhb11
|
UTSW |
18 |
37,556,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Pcdhb11
|
UTSW |
18 |
37,555,422 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8229:Pcdhb11
|
UTSW |
18 |
37,555,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8254:Pcdhb11
|
UTSW |
18 |
37,555,242 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8356:Pcdhb11
|
UTSW |
18 |
37,555,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8739:Pcdhb11
|
UTSW |
18 |
37,555,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Pcdhb11
|
UTSW |
18 |
37,555,872 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8957:Pcdhb11
|
UTSW |
18 |
37,554,692 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8964:Pcdhb11
|
UTSW |
18 |
37,556,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8966:Pcdhb11
|
UTSW |
18 |
37,556,037 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9188:Pcdhb11
|
UTSW |
18 |
37,556,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Pcdhb11
|
UTSW |
18 |
37,554,529 (GRCm39) |
intron |
probably benign |
|
|
R9632:Pcdhb11
|
UTSW |
18 |
37,556,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation