Incidental Mutation 'IGL01314:Klk1b4'
ID |
73805 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klk1b4
|
Ensembl Gene |
ENSMUSG00000066513 |
Gene Name |
kallikrein 1-related pepidase b4 |
Synonyms |
Ngfa, Ngfa, mGk-4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
IGL01314
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
43856859-43861178 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 43860600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074359]
[ENSMUST00000077354]
[ENSMUST00000077354]
|
AlphaFold |
P00757 |
PDB Structure |
CRYSTAL STRUCTURE OF 7S NGF: A COMPLEX OF NERVE GROWTH FACTOR WITH FOUR BINDING PROTEINS (SERINE PROTEINASES) [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074359
|
SMART Domains |
Protein: ENSMUSP00000073964 Gene: ENSMUSG00000066512
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
24 |
253 |
1.49e-100 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000077354
|
SMART Domains |
Protein: ENSMUSP00000076576 Gene: ENSMUSG00000066513
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
10 |
248 |
5.88e-81 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000077354
|
SMART Domains |
Protein: ENSMUSP00000076576 Gene: ENSMUSG00000066513
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
10 |
248 |
5.88e-81 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206046
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes the alpha subunit of the 7S nerve growth factor (NGF) complex that is essential for the differentiation and survival of distinct populations of neurons in both the central and the peripheral nervous systems. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
C |
T |
15: 11,071,939 (GRCm39) |
A161V |
probably benign |
Het |
Bptf |
A |
T |
11: 106,945,679 (GRCm39) |
V2520E |
probably damaging |
Het |
C87436 |
T |
C |
6: 86,434,837 (GRCm39) |
F395S |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,014 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
T |
A |
7: 17,481,181 (GRCm39) |
Y309* |
probably null |
Het |
Clasp2 |
A |
G |
9: 113,735,195 (GRCm39) |
D1011G |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,713,151 (GRCm39) |
Y1608H |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,711,390 (GRCm39) |
I77T |
probably benign |
Het |
Dcdc2a |
T |
C |
13: 25,286,587 (GRCm39) |
L170P |
probably damaging |
Het |
Ddx28 |
A |
G |
8: 106,737,212 (GRCm39) |
F282S |
probably damaging |
Het |
Egf |
A |
G |
3: 129,479,909 (GRCm39) |
I497T |
probably benign |
Het |
Emsy |
A |
G |
7: 98,242,662 (GRCm39) |
V1159A |
probably benign |
Het |
Hk3 |
C |
A |
13: 55,154,876 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
G |
5: 35,036,200 (GRCm39) |
D2049G |
probably benign |
Het |
Inpp5d |
C |
A |
1: 87,611,472 (GRCm39) |
S45* |
probably null |
Het |
Irf8 |
A |
G |
8: 121,480,119 (GRCm39) |
Y119C |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,380,513 (GRCm39) |
S1273P |
probably damaging |
Het |
Man2c1 |
A |
T |
9: 57,049,103 (GRCm39) |
H867L |
probably benign |
Het |
Mgat4e |
T |
C |
1: 134,469,187 (GRCm39) |
T286A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,058,238 (GRCm39) |
F1267L |
possibly damaging |
Het |
Necab1 |
T |
A |
4: 15,005,079 (GRCm39) |
E128D |
probably damaging |
Het |
Or10ak9 |
G |
A |
4: 118,726,328 (GRCm39) |
V117I |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,772,637 (GRCm39) |
V1322A |
probably benign |
Het |
Poc1b |
C |
T |
10: 98,965,503 (GRCm39) |
T144I |
probably damaging |
Het |
Prcc |
T |
A |
3: 87,777,387 (GRCm39) |
N196Y |
probably damaging |
Het |
Psma5 |
G |
A |
3: 108,187,111 (GRCm39) |
V237M |
possibly damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,756,322 (GRCm39) |
L11P |
probably damaging |
Het |
Rapgef3 |
A |
G |
15: 97,646,104 (GRCm39) |
F132S |
probably damaging |
Het |
Rgs13 |
T |
G |
1: 144,047,179 (GRCm39) |
D14A |
probably benign |
Het |
Rlig1 |
A |
C |
10: 100,409,473 (GRCm39) |
D313E |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tcerg1 |
C |
A |
18: 42,706,374 (GRCm39) |
A1017D |
probably damaging |
Het |
Tent5c |
T |
C |
3: 100,380,490 (GRCm39) |
K89E |
probably benign |
Het |
Tmem79 |
T |
C |
3: 88,239,883 (GRCm39) |
I276V |
possibly damaging |
Het |
Tmem94 |
C |
A |
11: 115,680,835 (GRCm39) |
H113N |
probably damaging |
Het |
Vil1 |
G |
A |
1: 74,467,397 (GRCm39) |
D715N |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
Zfhx4 |
T |
A |
3: 5,478,154 (GRCm39) |
S3590T |
probably damaging |
Het |
|
Other mutations in Klk1b4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00518:Klk1b4
|
APN |
7 |
43,860,456 (GRCm39) |
splice site |
probably benign |
|
IGL00572:Klk1b4
|
APN |
7 |
43,860,198 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02252:Klk1b4
|
APN |
7 |
43,860,094 (GRCm39) |
nonsense |
probably null |
|
IGL03006:Klk1b4
|
APN |
7 |
43,861,019 (GRCm39) |
missense |
probably benign |
0.08 |
R0255:Klk1b4
|
UTSW |
7 |
43,860,158 (GRCm39) |
missense |
probably benign |
0.00 |
R0277:Klk1b4
|
UTSW |
7 |
43,861,053 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0931:Klk1b4
|
UTSW |
7 |
43,860,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R1718:Klk1b4
|
UTSW |
7 |
43,859,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R1777:Klk1b4
|
UTSW |
7 |
43,856,875 (GRCm39) |
start gained |
probably benign |
|
R1894:Klk1b4
|
UTSW |
7 |
43,859,054 (GRCm39) |
missense |
probably benign |
|
R1924:Klk1b4
|
UTSW |
7 |
43,859,105 (GRCm39) |
missense |
probably benign |
0.00 |
R3979:Klk1b4
|
UTSW |
7 |
43,861,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R4044:Klk1b4
|
UTSW |
7 |
43,860,179 (GRCm39) |
missense |
probably benign |
0.03 |
R5011:Klk1b4
|
UTSW |
7 |
43,860,492 (GRCm39) |
missense |
probably benign |
0.01 |
R5013:Klk1b4
|
UTSW |
7 |
43,860,492 (GRCm39) |
missense |
probably benign |
0.01 |
R5794:Klk1b4
|
UTSW |
7 |
43,859,069 (GRCm39) |
missense |
probably damaging |
0.99 |
R7122:Klk1b4
|
UTSW |
7 |
43,860,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R7192:Klk1b4
|
UTSW |
7 |
43,859,045 (GRCm39) |
missense |
probably benign |
0.44 |
R7595:Klk1b4
|
UTSW |
7 |
43,860,132 (GRCm39) |
missense |
probably benign |
|
R8318:Klk1b4
|
UTSW |
7 |
43,860,335 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8331:Klk1b4
|
UTSW |
7 |
43,860,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Klk1b4
|
UTSW |
7 |
43,856,884 (GRCm39) |
missense |
probably damaging |
0.96 |
R9014:Klk1b4
|
UTSW |
7 |
43,859,098 (GRCm39) |
missense |
probably benign |
0.06 |
R9576:Klk1b4
|
UTSW |
7 |
43,860,477 (GRCm39) |
missense |
probably benign |
0.19 |
|
Posted On |
2013-10-07 |