Incidental Mutation 'IGL01820:Zdhhc13'
ID |
154500 |
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 # |
IGL01820
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
48438751-48477188 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48458613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 316
(S316P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118927]
[ENSMUST00000125280]
|
AlphaFold |
Q9CWU2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118927
AA Change: S316P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112498 Gene: ENSMUSG00000030471 AA Change: S316P
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: S186P
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000123603 Gene: ENSMUSG00000030471 AA Change: S186P
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 |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,765,896 (GRCm39) |
|
probably benign |
Het |
Adcy2 |
T |
C |
13: 68,886,664 (GRCm39) |
|
probably null |
Het |
Akna |
G |
T |
4: 63,304,495 (GRCm39) |
T553N |
probably benign |
Het |
Boc |
A |
G |
16: 44,312,235 (GRCm39) |
I609T |
possibly damaging |
Het |
Btbd9 |
C |
T |
17: 30,746,383 (GRCm39) |
V148I |
possibly damaging |
Het |
Cacna1d |
A |
T |
14: 29,764,823 (GRCm39) |
I2049N |
possibly damaging |
Het |
Cdhr1 |
A |
T |
14: 36,807,536 (GRCm39) |
M368K |
probably benign |
Het |
Cftr |
A |
G |
6: 18,226,138 (GRCm39) |
Y362C |
probably damaging |
Het |
Cnppd1 |
G |
T |
1: 75,116,236 (GRCm39) |
|
probably null |
Het |
Col3a1 |
T |
C |
1: 45,360,768 (GRCm39) |
I66T |
unknown |
Het |
Col5a2 |
C |
A |
1: 45,481,985 (GRCm39) |
M46I |
unknown |
Het |
Csmd3 |
G |
T |
15: 47,470,538 (GRCm39) |
C3379* |
probably null |
Het |
Ctla2b |
T |
A |
13: 61,044,503 (GRCm39) |
*28C |
probably null |
Het |
Ddhd2 |
C |
T |
8: 26,239,781 (GRCm39) |
E33K |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,773,092 (GRCm39) |
H387R |
probably damaging |
Het |
Dyrk1b |
T |
A |
7: 27,881,025 (GRCm39) |
|
probably benign |
Het |
Fam131c |
T |
C |
4: 141,107,648 (GRCm39) |
C53R |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,463,539 (GRCm39) |
F1360L |
probably damaging |
Het |
Gm10320 |
G |
T |
13: 98,626,045 (GRCm39) |
S113* |
probably null |
Het |
Ifih1 |
T |
C |
2: 62,447,657 (GRCm39) |
D349G |
probably damaging |
Het |
Il12a |
T |
C |
3: 68,599,495 (GRCm39) |
|
probably benign |
Het |
Ivl |
A |
T |
3: 92,478,940 (GRCm39) |
M375K |
possibly damaging |
Het |
Krt82 |
C |
A |
15: 101,451,887 (GRCm39) |
|
probably benign |
Het |
Mc4r |
C |
T |
18: 66,992,226 (GRCm39) |
V296I |
probably benign |
Het |
Met |
T |
A |
6: 17,534,230 (GRCm39) |
I691N |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,425,937 (GRCm39) |
I2396K |
probably damaging |
Het |
Napg |
C |
A |
18: 63,119,516 (GRCm39) |
Q135K |
probably benign |
Het |
Nf2 |
A |
T |
11: 4,739,655 (GRCm39) |
|
probably null |
Het |
Nrxn1 |
G |
T |
17: 90,950,531 (GRCm39) |
H549Q |
probably damaging |
Het |
P4ha1 |
T |
A |
10: 59,197,736 (GRCm39) |
I321K |
probably damaging |
Het |
Prl5a1 |
T |
C |
13: 28,332,683 (GRCm39) |
S94P |
probably benign |
Het |
Prnp |
T |
C |
2: 131,778,990 (GRCm39) |
V214A |
probably benign |
Het |
Ptprc |
A |
T |
1: 137,993,936 (GRCm39) |
F1165I |
probably damaging |
Het |
Rdh10 |
T |
C |
1: 16,198,483 (GRCm39) |
V207A |
possibly damaging |
Het |
Rel |
A |
T |
11: 23,703,218 (GRCm39) |
N131K |
probably benign |
Het |
Rgs14 |
A |
T |
13: 55,531,338 (GRCm39) |
D448V |
probably benign |
Het |
Spag5 |
T |
G |
11: 78,195,085 (GRCm39) |
S131A |
probably benign |
Het |
Styxl1 |
C |
T |
5: 135,794,604 (GRCm39) |
D88N |
probably damaging |
Het |
Tlr3 |
C |
T |
8: 45,851,376 (GRCm39) |
R507H |
probably benign |
Het |
Ttn |
C |
T |
2: 76,616,670 (GRCm39) |
E16528K |
possibly damaging |
Het |
Txlnb |
T |
C |
10: 17,682,606 (GRCm39) |
|
probably null |
Het |
Unc13a |
A |
G |
8: 72,107,591 (GRCm39) |
V567A |
probably damaging |
Het |
Vmn1r8 |
T |
C |
6: 57,013,653 (GRCm39) |
S235P |
possibly damaging |
Het |
Vmn2r51 |
T |
A |
7: 9,839,409 (GRCm39) |
N60Y |
probably damaging |
Het |
Wbp1l |
T |
A |
19: 46,640,922 (GRCm39) |
L68Q |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,071,947 (GRCm39) |
V981E |
probably benign |
Het |
Zfp516 |
C |
T |
18: 83,005,486 (GRCm39) |
R797C |
probably benign |
Het |
Zp3r |
A |
G |
1: 130,526,657 (GRCm39) |
V182A |
probably benign |
Het |
|
Other mutations in Zdhhc13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00852:Zdhhc13
|
APN |
7 |
48,455,349 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2014-02-04 |