Incidental Mutation 'R5794:Klk1b4'
| ID |
447119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b4
|
| Ensembl Gene |
ENSMUSG00000066513 |
| Gene Name |
kallikrein 1-related pepidase b4 |
| Synonyms |
Ngfa, Ngfa, mGk-4 |
| MMRRC Submission |
043385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5794 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43856859-43861178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43859069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 29
(N29I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[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 damaging
Transcript: ENSMUST00000077354
AA Change: N29I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513
AA Change: N29I
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
10 |
248 |
5.88e-81 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206046
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
T |
C |
11: 20,676,955 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
C |
3: 126,723,669 (GRCm39) |
N923S |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,792,405 (GRCm39) |
T76S |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,276,533 (GRCm39) |
N204K |
probably damaging |
Het |
| Cep126 |
T |
G |
9: 8,103,440 (GRCm39) |
N190T |
possibly damaging |
Het |
| Clasrp |
A |
T |
7: 19,325,034 (GRCm39) |
D198E |
probably damaging |
Het |
| Cma1 |
T |
C |
14: 56,181,977 (GRCm39) |
T18A |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,683,844 (GRCm39) |
I565M |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,811,323 (GRCm39) |
F1135L |
probably damaging |
Het |
| Fbxw20 |
T |
C |
9: 109,052,358 (GRCm39) |
N325S |
probably damaging |
Het |
| Fbxw20 |
A |
T |
9: 109,062,668 (GRCm39) |
C53S |
possibly damaging |
Het |
| Gnb2 |
T |
C |
5: 137,526,961 (GRCm39) |
D203G |
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hoxd9 |
T |
A |
2: 74,529,617 (GRCm39) |
F291Y |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,928,332 (GRCm39) |
S1004G |
probably benign |
Het |
| Irgm1 |
T |
C |
11: 48,757,064 (GRCm39) |
Y249C |
probably damaging |
Het |
| Kcnh3 |
A |
C |
15: 99,130,855 (GRCm39) |
I491L |
probably benign |
Het |
| Kctd10 |
G |
A |
5: 114,505,398 (GRCm39) |
R199W |
probably damaging |
Het |
| Klrc1 |
C |
T |
6: 129,652,317 (GRCm39) |
R188Q |
probably damaging |
Het |
| Krt32 |
C |
A |
11: 99,975,812 (GRCm39) |
C275F |
probably damaging |
Het |
| Krt73 |
T |
A |
15: 101,703,264 (GRCm39) |
T449S |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,429 (GRCm39) |
S7C |
possibly damaging |
Het |
| Nfia |
G |
T |
4: 97,671,838 (GRCm39) |
V183L |
possibly damaging |
Het |
| Or5g27 |
T |
C |
2: 85,409,685 (GRCm39) |
V34A |
probably benign |
Het |
| Or6c3 |
A |
C |
10: 129,309,295 (GRCm39) |
I245L |
possibly damaging |
Het |
| Psma3 |
A |
G |
12: 71,037,271 (GRCm39) |
T111A |
probably benign |
Het |
| Psmd11 |
T |
A |
11: 80,362,318 (GRCm39) |
D125E |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,392,914 (GRCm39) |
D523E |
probably benign |
Het |
| Rttn |
G |
T |
18: 89,013,693 (GRCm39) |
R454L |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,799,156 (GRCm39) |
N33D |
probably benign |
Het |
| Six4 |
A |
T |
12: 73,159,124 (GRCm39) |
S271T |
possibly damaging |
Het |
| Smoc2 |
T |
A |
17: 14,589,310 (GRCm39) |
C260S |
possibly damaging |
Het |
| Snai2 |
A |
T |
16: 14,524,590 (GRCm39) |
Y32F |
probably benign |
Het |
| Tapt1 |
C |
T |
5: 44,334,476 (GRCm39) |
G505D |
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,365,600 (GRCm39) |
D589E |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r116 |
T |
C |
17: 23,604,942 (GRCm39) |
I85T |
probably damaging |
Het |
| Zfp592 |
G |
T |
7: 80,674,781 (GRCm39) |
V582L |
probably benign |
Het |
| Zfp827 |
T |
C |
8: 79,797,071 (GRCm39) |
W386R |
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 |
|
IGL01314:Klk1b4
|
APN |
7 |
43,860,600 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCATTGATCTCCCTATCGAG -3'
(R):5'- AGTTTCAGCCAGTTCCACCTG -3'
Sequencing Primer
(F):5'- CTATCGAGGACCAGCCATATATG -3'
(R):5'- GCCCTTCAGTACCCCAGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation