Incidental Mutation 'IGL02941:Zdhhc13'
| ID |
364519 |
| 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 # |
IGL02941
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
48438751-48477188 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 48466886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118927]
[ENSMUST00000125280]
|
| AlphaFold |
Q9CWU2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118927
|
| SMART Domains |
Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471
| 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
|
| SMART Domains |
Protein: ENSMUSP00000123603
Gene: ENSMUSG00000030471
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
G |
A |
7: 50,249,284 (GRCm39) |
R106Q |
probably damaging |
Het |
| Amhr2 |
T |
C |
15: 102,355,724 (GRCm39) |
V223A |
probably damaging |
Het |
| Aqr |
T |
A |
2: 113,943,835 (GRCm39) |
H1101L |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,367,681 (GRCm39) |
|
probably benign |
Het |
| Cacnb2 |
G |
A |
2: 14,963,640 (GRCm39) |
V85I |
probably benign |
Het |
| Cast |
A |
T |
13: 74,848,806 (GRCm39) |
D727E |
probably damaging |
Het |
| Ccdc134 |
C |
T |
15: 82,025,151 (GRCm39) |
R217W |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Col5a3 |
A |
G |
9: 20,715,962 (GRCm39) |
S360P |
unknown |
Het |
| Cyp4f16 |
T |
C |
17: 32,756,061 (GRCm39) |
I30T |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,552,361 (GRCm39) |
F267L |
probably benign |
Het |
| Fbxo3 |
A |
G |
2: 103,880,639 (GRCm39) |
T250A |
probably damaging |
Het |
| Gm4953 |
C |
T |
1: 158,995,963 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9242 |
T |
C |
16: 97,292,279 (GRCm39) |
|
probably benign |
Het |
| Gsr |
G |
A |
8: 34,179,453 (GRCm39) |
V354I |
probably damaging |
Het |
| H2bc21 |
A |
G |
3: 96,128,732 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Hecw1 |
T |
A |
13: 14,552,311 (GRCm39) |
D96V |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,537,711 (GRCm39) |
Y492C |
probably damaging |
Het |
| Itgb5 |
T |
G |
16: 33,764,465 (GRCm39) |
|
probably benign |
Het |
| Lars2 |
T |
G |
9: 123,288,650 (GRCm39) |
L832R |
probably damaging |
Het |
| Ms4a6c |
A |
G |
19: 11,448,466 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 90,515,811 (GRCm39) |
S1227G |
probably damaging |
Het |
| Or1j11 |
T |
C |
2: 36,312,132 (GRCm39) |
C241R |
probably damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,680 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or52r1c |
A |
G |
7: 102,735,528 (GRCm39) |
T263A |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,685,747 (GRCm39) |
Y738C |
probably damaging |
Het |
| Pcsk5 |
C |
A |
19: 17,424,865 (GRCm39) |
C1646F |
probably damaging |
Het |
| Pirb |
A |
G |
7: 3,720,377 (GRCm39) |
V332A |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polrmt |
A |
T |
10: 79,573,092 (GRCm39) |
|
probably benign |
Het |
| Saxo1 |
G |
T |
4: 86,363,821 (GRCm39) |
R221S |
probably damaging |
Het |
| Specc1l |
A |
G |
10: 75,077,022 (GRCm39) |
I93V |
probably benign |
Het |
| St8sia2 |
T |
A |
7: 73,626,397 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,103,494 (GRCm39) |
N265K |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,248,954 (GRCm39) |
Y305N |
probably damaging |
Het |
| Tmem120a |
T |
C |
5: 135,764,605 (GRCm39) |
T325A |
probably damaging |
Het |
| Vill |
G |
A |
9: 118,895,955 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,077,507 (GRCm39) |
D1060G |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,868,444 (GRCm39) |
F166I |
probably damaging |
Het |
| Zc3h7a |
T |
G |
16: 10,976,458 (GRCm39) |
|
probably null |
Het |
| Zfp808 |
T |
A |
13: 62,320,944 (GRCm39) |
N724K |
possibly damaging |
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 |
|
IGL01820:Zdhhc13
|
APN |
7 |
48,458,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation