Incidental Mutation 'IGL00852:Zdhhc13'
| ID |
278012 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zdhhc13
|
| Ensembl Gene |
ENSMUSG00000030471 |
| Gene Name |
zinc finger, DHHC domain containing 13 |
| Synonyms |
Hip14l, kojak, skc4, 2410004E01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00852
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
48438751-48477188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48455349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 260
(S260R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118927]
[ENSMUST00000125280]
|
| AlphaFold |
Q9CWU2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118927
AA Change: S260R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471
AA Change: S260R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
48 |
77 |
1e-9 |
BLAST |
|
ANK
|
81 |
110 |
3.08e-1 |
SMART |
|
ANK
|
115 |
144 |
4.39e-6 |
SMART |
|
ANK
|
148 |
177 |
2.37e-2 |
SMART |
|
ANK
|
181 |
211 |
5.19e2 |
SMART |
|
ANK
|
216 |
245 |
8.07e-5 |
SMART |
|
ANK
|
249 |
277 |
1.09e3 |
SMART |
|
transmembrane domain
|
292 |
310 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
transmembrane domain
|
344 |
366 |
N/A |
INTRINSIC |
|
transmembrane domain
|
373 |
392 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
421 |
558 |
1.1e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125280
AA Change: S130R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123603
Gene: ENSMUSG00000030471
AA Change: S130R
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
18 |
47 |
2.37e-2 |
SMART |
|
ANK
|
51 |
81 |
5.19e2 |
SMART |
|
ANK
|
86 |
115 |
8.07e-5 |
SMART |
|
ANK
|
119 |
147 |
1.09e3 |
SMART |
|
transmembrane domain
|
160 |
182 |
N/A |
INTRINSIC |
|
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
214 |
236 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
258 |
428 |
1.1e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139125
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU mutation display wasting, weight loss, hair loss (alopecia), reduced bone mineral density (osteoporosis), and generalized amyloid deposition, which resulted in early death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap157 |
T |
A |
2: 32,669,827 (GRCm39) |
Q252L |
possibly damaging |
Het |
| Chd9 |
C |
A |
8: 91,699,835 (GRCm39) |
Q622K |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Cypt15-ps |
A |
T |
X: 38,435,507 (GRCm39) |
R56* |
probably null |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,330,597 (GRCm39) |
L721* |
probably null |
Het |
| Dsc2 |
C |
T |
18: 20,167,740 (GRCm39) |
V718I |
probably benign |
Het |
| Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,345,638 (GRCm39) |
L214F |
probably damaging |
Het |
| Ibtk |
A |
C |
9: 85,595,654 (GRCm39) |
Y971D |
probably benign |
Het |
| Lancl1 |
G |
A |
1: 67,043,996 (GRCm39) |
L335F |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,740,858 (GRCm39) |
W1035R |
probably damaging |
Het |
| Pkn2 |
T |
A |
3: 142,515,577 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
G |
A |
10: 58,313,723 (GRCm39) |
R1481Q |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,366,748 (GRCm39) |
N313S |
probably benign |
Het |
| Septin10 |
A |
G |
10: 59,028,642 (GRCm39) |
|
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,081,321 (GRCm39) |
|
probably null |
Het |
| Slc22a19 |
C |
T |
19: 7,660,323 (GRCm39) |
M362I |
probably benign |
Het |
| Spmip4 |
T |
A |
6: 50,566,164 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
T |
A |
3: 154,760,206 (GRCm39) |
Q43L |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,964,435 (GRCm39) |
V1310D |
possibly damaging |
Het |
|
| Other mutations in Zdhhc13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01820:Zdhhc13
|
APN |
7 |
48,458,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02941:Zdhhc13
|
APN |
7 |
48,466,886 (GRCm39) |
splice site |
probably benign |
|
|
bernard
|
UTSW |
7 |
48,476,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
brindle
|
UTSW |
7 |
48,474,479 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
oxidized
|
UTSW |
7 |
48,466,175 (GRCm39) |
missense |
probably benign |
0.04 |
|
rusty
|
UTSW |
7 |
48,474,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
zephiro
|
UTSW |
7 |
48,461,103 (GRCm39) |
nonsense |
probably null |
|
|
PIT4445001:Zdhhc13
|
UTSW |
7 |
48,445,697 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0456:Zdhhc13
|
UTSW |
7 |
48,458,602 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1398:Zdhhc13
|
UTSW |
7 |
48,476,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Zdhhc13
|
UTSW |
7 |
48,474,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1786:Zdhhc13
|
UTSW |
7 |
48,474,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2066:Zdhhc13
|
UTSW |
7 |
48,466,175 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2131:Zdhhc13
|
UTSW |
7 |
48,474,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2133:Zdhhc13
|
UTSW |
7 |
48,474,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2405:Zdhhc13
|
UTSW |
7 |
48,472,478 (GRCm39) |
splice site |
probably null |
|
|
R3770:Zdhhc13
|
UTSW |
7 |
48,452,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4374:Zdhhc13
|
UTSW |
7 |
48,458,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Zdhhc13
|
UTSW |
7 |
48,449,621 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5052:Zdhhc13
|
UTSW |
7 |
48,474,479 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5455:Zdhhc13
|
UTSW |
7 |
48,455,323 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6418:Zdhhc13
|
UTSW |
7 |
48,461,149 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6502:Zdhhc13
|
UTSW |
7 |
48,465,308 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7136:Zdhhc13
|
UTSW |
7 |
48,451,080 (GRCm39) |
missense |
probably benign |
|
|
R7467:Zdhhc13
|
UTSW |
7 |
48,454,156 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7485:Zdhhc13
|
UTSW |
7 |
48,461,103 (GRCm39) |
nonsense |
probably null |
|
|
R7723:Zdhhc13
|
UTSW |
7 |
48,458,567 (GRCm39) |
missense |
probably benign |
|
|
R8297:Zdhhc13
|
UTSW |
7 |
48,465,257 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8356:Zdhhc13
|
UTSW |
7 |
48,452,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8385:Zdhhc13
|
UTSW |
7 |
48,455,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8456:Zdhhc13
|
UTSW |
7 |
48,452,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9346:Zdhhc13
|
UTSW |
7 |
48,472,328 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9397:Zdhhc13
|
UTSW |
7 |
48,476,628 (GRCm39) |
missense |
probably benign |
|
|
X0021:Zdhhc13
|
UTSW |
7 |
48,454,963 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2015-04-16 |
Incidental Mutation