Incidental Mutation 'R2252:Spink5'
| ID |
241783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spink5
|
| Ensembl Gene |
ENSMUSG00000055561 |
| Gene Name |
serine peptidase inhibitor, Kazal type 5 |
| Synonyms |
LEKT1, 2310065D10Rik |
| MMRRC Submission |
040252-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
44096302-44155568 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 44153891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 1013
(E1013*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069245]
|
| AlphaFold |
Q148R4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069245
AA Change: E1013*
|
| SMART Domains |
Protein: ENSMUSP00000066214
Gene: ENSMUSG00000055561
AA Change: E1013*
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1UUC|A
|
26 |
77 |
3e-6 |
PDB |
|
KAZAL
|
97 |
152 |
1.67e-15 |
SMART |
|
KAZAL
|
161 |
216 |
2.07e-3 |
SMART |
|
KAZAL
|
226 |
281 |
3.37e-11 |
SMART |
|
KAZAL
|
298 |
353 |
2.92e-6 |
SMART |
|
KAZAL
|
367 |
424 |
6.73e-3 |
SMART |
|
KAZAL
|
426 |
480 |
6.07e-4 |
SMART |
|
KAZAL
|
496 |
558 |
2.43e-1 |
SMART |
|
KAZAL
|
559 |
614 |
2.72e-15 |
SMART |
|
KAZAL
|
633 |
687 |
1.95e-7 |
SMART |
|
KAZAL
|
700 |
755 |
1.01e-9 |
SMART |
|
KAZAL
|
769 |
824 |
7.29e-7 |
SMART |
|
KAZAL
|
865 |
931 |
1.32e-4 |
SMART |
|
KAZAL
|
942 |
996 |
2.74e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
| Acaca |
G |
T |
11: 84,262,358 (GRCm39) |
V1987L |
probably damaging |
Het |
| B3gnt3 |
A |
T |
8: 72,145,462 (GRCm39) |
M302K |
probably damaging |
Het |
| BC048507 |
T |
C |
13: 68,011,626 (GRCm39) |
M1T |
probably null |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Casp3 |
G |
T |
8: 47,090,990 (GRCm39) |
W214L |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,906 (GRCm39) |
K651* |
probably null |
Het |
| Cdh15 |
T |
A |
8: 123,584,161 (GRCm39) |
D87E |
probably damaging |
Het |
| Cldn24 |
G |
T |
8: 48,275,363 (GRCm39) |
R62S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
| Cspg4 |
C |
T |
9: 56,805,330 (GRCm39) |
T2047I |
probably damaging |
Het |
| Cul2 |
A |
T |
18: 3,399,876 (GRCm39) |
L3F |
probably damaging |
Het |
| Cwc27 |
A |
T |
13: 104,768,237 (GRCm39) |
H419Q |
probably damaging |
Het |
| Dgkg |
A |
T |
16: 22,441,010 (GRCm39) |
M1K |
probably null |
Het |
| Dock5 |
A |
T |
14: 68,022,261 (GRCm39) |
L1171H |
probably damaging |
Het |
| Drc1 |
G |
T |
5: 30,500,075 (GRCm39) |
V103F |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,866,957 (GRCm39) |
N1062K |
unknown |
Het |
| Faap20 |
A |
C |
4: 155,335,010 (GRCm39) |
E37A |
possibly damaging |
Het |
| Foxa2 |
A |
G |
2: 147,886,086 (GRCm39) |
F243S |
probably damaging |
Het |
| Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
| Itch |
T |
A |
2: 155,054,259 (GRCm39) |
M701K |
probably benign |
Het |
| Kpna1 |
T |
C |
16: 35,841,939 (GRCm39) |
Y280H |
possibly damaging |
Het |
| L1td1 |
A |
G |
4: 98,625,874 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,392,293 (GRCm39) |
Q1044R |
probably benign |
Het |
| Lrrc52 |
A |
T |
1: 167,293,937 (GRCm39) |
I116N |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,147,698 (GRCm39) |
E636G |
probably damaging |
Het |
| Mrpl40 |
T |
C |
16: 18,694,125 (GRCm39) |
H29R |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,173 (GRCm39) |
Y1128C |
probably damaging |
Het |
| Or10d3 |
G |
T |
9: 39,461,273 (GRCm39) |
A298D |
probably damaging |
Het |
| Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
| Or8c8 |
A |
G |
9: 38,165,126 (GRCm39) |
I135V |
probably benign |
Het |
| Pard3 |
A |
T |
8: 128,337,080 (GRCm39) |
E1232V |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,732,799 (GRCm39) |
E628G |
probably benign |
Het |
| Pcsk1 |
C |
A |
13: 75,274,845 (GRCm39) |
A478D |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,784,177 (GRCm39) |
Y700C |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,821,816 (GRCm39) |
N270D |
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
| Reep1 |
T |
A |
6: 71,733,426 (GRCm39) |
|
probably null |
Het |
| Sash1 |
A |
T |
10: 8,605,741 (GRCm39) |
M883K |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
A |
G |
11: 87,480,637 (GRCm39) |
N405D |
possibly damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,083,208 (GRCm39) |
I231M |
possibly damaging |
Het |
| Serping1 |
A |
G |
2: 84,600,195 (GRCm39) |
S322P |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
| Thoc3 |
A |
T |
13: 54,615,646 (GRCm39) |
N139K |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tubb2b |
T |
A |
13: 34,314,198 (GRCm39) |
I7F |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,966,271 (GRCm39) |
D297G |
unknown |
Het |
| Vmn2r18 |
T |
C |
5: 151,508,441 (GRCm39) |
I228V |
possibly damaging |
Het |
| Vmn2r98 |
A |
C |
17: 19,300,698 (GRCm39) |
S567R |
probably benign |
Het |
| Vwa5a |
T |
C |
9: 38,639,376 (GRCm39) |
I369T |
probably damaging |
Het |
| Yjefn3 |
A |
C |
8: 70,342,095 (GRCm39) |
F42V |
probably damaging |
Het |
| Zfp472 |
A |
T |
17: 33,195,257 (GRCm39) |
R69* |
probably null |
Het |
| Zfp536 |
T |
C |
7: 37,178,814 (GRCm39) |
S200G |
probably benign |
Het |
| Zfp970 |
T |
A |
2: 177,166,614 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Spink5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Spink5
|
APN |
18 |
44,120,938 (GRCm39) |
splice site |
probably benign |
|
|
IGL00332:Spink5
|
APN |
18 |
44,100,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00501:Spink5
|
APN |
18 |
44,110,806 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00772:Spink5
|
APN |
18 |
44,139,487 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00920:Spink5
|
APN |
18 |
44,136,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00980:Spink5
|
APN |
18 |
44,140,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01016:Spink5
|
APN |
18 |
44,140,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01155:Spink5
|
APN |
18 |
44,114,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01374:Spink5
|
APN |
18 |
44,122,471 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01629:Spink5
|
APN |
18 |
44,129,677 (GRCm39) |
splice site |
probably benign |
|
|
IGL01907:Spink5
|
APN |
18 |
44,129,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01931:Spink5
|
APN |
18 |
44,148,705 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02237:Spink5
|
APN |
18 |
44,145,934 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02306:Spink5
|
APN |
18 |
44,097,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02402:Spink5
|
APN |
18 |
44,100,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02425:Spink5
|
APN |
18 |
44,123,811 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02552:Spink5
|
APN |
18 |
44,125,235 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02554:Spink5
|
APN |
18 |
44,148,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03066:Spink5
|
APN |
18 |
44,149,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03288:Spink5
|
APN |
18 |
44,147,827 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
crusty2
|
UTSW |
18 |
44,133,001 (GRCm39) |
splice site |
probably benign |
|
|
R0079:Spink5
|
UTSW |
18 |
44,110,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Spink5
|
UTSW |
18 |
44,136,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0452:Spink5
|
UTSW |
18 |
44,096,385 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0569:Spink5
|
UTSW |
18 |
44,122,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Spink5
|
UTSW |
18 |
44,146,042 (GRCm39) |
splice site |
probably null |
|
|
R0648:Spink5
|
UTSW |
18 |
44,132,864 (GRCm39) |
splice site |
probably benign |
|
|
R0705:Spink5
|
UTSW |
18 |
44,125,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1170:Spink5
|
UTSW |
18 |
44,116,630 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1290:Spink5
|
UTSW |
18 |
44,140,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1345:Spink5
|
UTSW |
18 |
44,123,749 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1458:Spink5
|
UTSW |
18 |
44,140,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1530:Spink5
|
UTSW |
18 |
44,148,738 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1570:Spink5
|
UTSW |
18 |
44,100,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1820:Spink5
|
UTSW |
18 |
44,122,486 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1843:Spink5
|
UTSW |
18 |
44,132,958 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1968:Spink5
|
UTSW |
18 |
44,123,775 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2050:Spink5
|
UTSW |
18 |
44,140,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2278:Spink5
|
UTSW |
18 |
44,119,396 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2279:Spink5
|
UTSW |
18 |
44,119,396 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2696:Spink5
|
UTSW |
18 |
44,115,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2992:Spink5
|
UTSW |
18 |
44,129,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3422:Spink5
|
UTSW |
18 |
44,143,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3934:Spink5
|
UTSW |
18 |
44,149,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4179:Spink5
|
UTSW |
18 |
44,120,934 (GRCm39) |
missense |
probably benign |
|
|
R4854:Spink5
|
UTSW |
18 |
44,153,908 (GRCm39) |
makesense |
probably null |
|
|
R5011:Spink5
|
UTSW |
18 |
44,139,479 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5133:Spink5
|
UTSW |
18 |
44,119,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Spink5
|
UTSW |
18 |
44,132,924 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5185:Spink5
|
UTSW |
18 |
44,148,711 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5187:Spink5
|
UTSW |
18 |
44,122,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5292:Spink5
|
UTSW |
18 |
44,139,521 (GRCm39) |
missense |
probably benign |
|
|
R5332:Spink5
|
UTSW |
18 |
44,125,984 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5600:Spink5
|
UTSW |
18 |
44,151,778 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6267:Spink5
|
UTSW |
18 |
44,147,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6296:Spink5
|
UTSW |
18 |
44,147,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6373:Spink5
|
UTSW |
18 |
44,123,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Spink5
|
UTSW |
18 |
44,143,109 (GRCm39) |
splice site |
probably null |
|
|
R6982:Spink5
|
UTSW |
18 |
44,110,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Spink5
|
UTSW |
18 |
44,115,317 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7396:Spink5
|
UTSW |
18 |
44,110,722 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7643:Spink5
|
UTSW |
18 |
44,143,319 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7726:Spink5
|
UTSW |
18 |
44,096,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Spink5
|
UTSW |
18 |
44,143,296 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7836:Spink5
|
UTSW |
18 |
44,132,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7880:Spink5
|
UTSW |
18 |
44,119,393 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8031:Spink5
|
UTSW |
18 |
44,143,303 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8198:Spink5
|
UTSW |
18 |
44,125,947 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8361:Spink5
|
UTSW |
18 |
44,122,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8375:Spink5
|
UTSW |
18 |
44,123,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8684:Spink5
|
UTSW |
18 |
44,143,305 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8749:Spink5
|
UTSW |
18 |
44,122,425 (GRCm39) |
nonsense |
probably null |
|
|
R8918:Spink5
|
UTSW |
18 |
44,100,087 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9064:Spink5
|
UTSW |
18 |
44,100,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9161:Spink5
|
UTSW |
18 |
44,147,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9221:Spink5
|
UTSW |
18 |
44,119,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9292:Spink5
|
UTSW |
18 |
44,148,075 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9545:Spink5
|
UTSW |
18 |
44,136,262 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9784:Spink5
|
UTSW |
18 |
44,119,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Spink5
|
UTSW |
18 |
44,129,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Spink5
|
UTSW |
18 |
44,129,702 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCCCACCTCAATATTTG -3'
(R):5'- GAGACTTCTCCACATCCTCAGATC -3'
Sequencing Primer
(F):5'- GCCCACCTCAATATTTGATGCATAG -3'
(R):5'- TCAGATCACTGAGTCTAGAAGGAAAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation