Incidental Mutation 'R5648:Klk1b8'
| ID |
441268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b8
|
| Ensembl Gene |
ENSMUSG00000063089 |
| Gene Name |
kallikrein 1-related peptidase b8 |
| Synonyms |
mGK-8, Klk8, TADG14 |
| MMRRC Submission |
043169-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5648 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43600088-43604365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43448068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 31
(S31P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005891]
[ENSMUST00000085461]
[ENSMUST00000205537]
|
| AlphaFold |
P07628 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005891
|
| SMART Domains |
Protein: ENSMUSP00000005891
Gene: ENSMUSG00000047884
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
22 |
244 |
1.66e-89 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085461
AA Change: S31P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082588
Gene: ENSMUSG00000064023
AA Change: S31P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
32 |
252 |
8.87e-99 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205527
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205537
AA Change: S31P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206465
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,326,510 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
A |
G |
18: 65,482,988 (GRCm39) |
V340A |
probably damaging |
Het |
| Cald1 |
G |
T |
6: 34,739,267 (GRCm39) |
|
probably null |
Het |
| Col24a1 |
C |
T |
3: 145,064,321 (GRCm39) |
T702I |
probably benign |
Het |
| Ddx50 |
T |
C |
10: 62,452,049 (GRCm39) |
R725G |
unknown |
Het |
| Dnah9 |
A |
T |
11: 65,818,581 (GRCm39) |
F68L |
probably benign |
Het |
| Dnmt3b |
G |
A |
2: 153,519,118 (GRCm39) |
V651M |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,348,683 (GRCm39) |
C299Y |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,375,162 (GRCm39) |
I562V |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,068,641 (GRCm39) |
V223D |
probably damaging |
Het |
| Ggt6 |
T |
C |
11: 72,326,542 (GRCm39) |
I33T |
possibly damaging |
Het |
| Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
| Gm9847 |
A |
G |
12: 14,545,130 (GRCm39) |
|
noncoding transcript |
Het |
| Gnao1 |
A |
T |
8: 94,676,070 (GRCm39) |
Y116F |
probably damaging |
Het |
| Gvin1 |
A |
T |
7: 105,762,606 (GRCm39) |
I621K |
possibly damaging |
Het |
| Hyal6 |
T |
C |
6: 24,734,235 (GRCm39) |
M56T |
possibly damaging |
Het |
| Hyou1 |
T |
A |
9: 44,296,546 (GRCm39) |
D490E |
probably damaging |
Het |
| Igsf10 |
G |
C |
3: 59,235,574 (GRCm39) |
Q1536E |
probably benign |
Het |
| Map3k6 |
A |
C |
4: 132,970,646 (GRCm39) |
I178L |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,528,778 (GRCm39) |
N427Y |
probably damaging |
Het |
| Ncr1 |
T |
A |
7: 4,347,519 (GRCm39) |
I228N |
probably damaging |
Het |
| Nefh |
A |
T |
11: 4,895,233 (GRCm39) |
Y319N |
probably damaging |
Het |
| Or4a80 |
A |
C |
2: 89,582,417 (GRCm39) |
C252G |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,854,848 (GRCm39) |
V120A |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,628,850 (GRCm39) |
Y699F |
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,767,362 (GRCm39) |
L250P |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,203,570 (GRCm39) |
V1228A |
probably benign |
Het |
| Rhobtb2 |
G |
T |
14: 70,034,593 (GRCm39) |
R211S |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,403,697 (GRCm39) |
I305V |
possibly damaging |
Het |
| Slc12a2 |
G |
A |
18: 58,029,382 (GRCm39) |
G256E |
possibly damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,708,129 (GRCm39) |
|
probably null |
Het |
| Thoc1 |
A |
G |
18: 9,962,390 (GRCm39) |
T92A |
possibly damaging |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
T |
G |
15: 94,992,653 (GRCm39) |
S438A |
possibly damaging |
Het |
| Ttll7 |
A |
G |
3: 146,667,465 (GRCm39) |
N777S |
probably damaging |
Het |
| Ubd |
T |
A |
17: 37,506,345 (GRCm39) |
V77E |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,790,117 (GRCm39) |
S658P |
probably damaging |
Het |
| Vmn1r78 |
G |
A |
7: 11,886,693 (GRCm39) |
M101I |
possibly damaging |
Het |
| Wdr93 |
T |
C |
7: 79,426,974 (GRCm39) |
C638R |
probably benign |
Het |
| Zfp983 |
T |
A |
17: 21,877,947 (GRCm39) |
V50D |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,623,881 (GRCm39) |
H95Q |
probably damaging |
Het |
|
| Other mutations in Klk1b8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00820:Klk1b8
|
APN |
7 |
43,604,210 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01076:Klk1b8
|
APN |
7 |
43,604,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01486:Klk1b8
|
APN |
7 |
43,453,113 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01685:Klk1b8
|
APN |
7 |
43,604,294 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01771:Klk1b8
|
APN |
7 |
43,604,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02272:Klk1b8
|
APN |
7 |
43,602,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02596:Klk1b8
|
APN |
7 |
43,602,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0783:Klk1b8
|
UTSW |
7 |
43,451,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0789:Klk1b8
|
UTSW |
7 |
43,595,151 (GRCm39) |
unclassified |
probably benign |
|
|
R1005:Klk1b8
|
UTSW |
7 |
43,603,758 (GRCm39) |
nonsense |
probably null |
|
|
R1628:Klk1b8
|
UTSW |
7 |
43,603,565 (GRCm39) |
splice site |
probably null |
|
|
R1688:Klk1b8
|
UTSW |
7 |
43,595,229 (GRCm39) |
unclassified |
probably benign |
|
|
R1733:Klk1b8
|
UTSW |
7 |
43,451,545 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1954:Klk1b8
|
UTSW |
7 |
43,603,272 (GRCm39) |
splice site |
probably benign |
|
|
R2020:Klk1b8
|
UTSW |
7 |
43,448,640 (GRCm39) |
missense |
probably benign |
|
|
R4036:Klk1b8
|
UTSW |
7 |
43,447,511 (GRCm39) |
missense |
probably null |
0.00 |
|
R4344:Klk1b8
|
UTSW |
7 |
43,595,186 (GRCm39) |
unclassified |
probably benign |
|
|
R6237:Klk1b8
|
UTSW |
7 |
43,448,094 (GRCm39) |
nonsense |
probably null |
|
|
R6294:Klk1b8
|
UTSW |
7 |
43,602,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Klk1b8
|
UTSW |
7 |
43,602,213 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7609:Klk1b8
|
UTSW |
7 |
43,451,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Klk1b8
|
UTSW |
7 |
43,448,750 (GRCm39) |
splice site |
probably null |
|
|
R8925:Klk1b8
|
UTSW |
7 |
43,604,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Klk1b8
|
UTSW |
7 |
43,604,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Klk1b8
|
UTSW |
7 |
43,602,158 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9401:Klk1b8
|
UTSW |
7 |
43,603,674 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9456:Klk1b8
|
UTSW |
7 |
43,453,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9505:Klk1b8
|
UTSW |
7 |
43,451,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Klk1b8
|
UTSW |
7 |
43,453,149 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGTGAACTTACATGTGGCC -3'
(R):5'- CTTCCTCAAACAGAGCCCTG -3'
Sequencing Primer
(F):5'- GCCATGTTCCAATGGATGC -3'
(R):5'- ACAGAGCCCTGAGCCTCTTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation