Incidental Mutation 'R3770:Zdhhc13'
| ID |
273211 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3770 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
48438751-48477188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48452692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 5
(L5M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118927]
[ENSMUST00000125280]
|
| AlphaFold |
Q9CWU2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118927
AA Change: L135M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471
AA Change: L135M
| 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 damaging
Transcript: ENSMUST00000125280
AA Change: L5M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123603
Gene: ENSMUSG00000030471
AA Change: L5M
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207366
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
T |
C |
11: 116,065,213 (GRCm39) |
D578G |
probably damaging |
Het |
| Adgrb1 |
T |
A |
15: 74,460,157 (GRCm39) |
I543N |
probably damaging |
Het |
| Agbl1 |
T |
C |
7: 76,075,677 (GRCm39) |
|
probably null |
Het |
| Ano1 |
A |
G |
7: 144,149,306 (GRCm39) |
Y852H |
probably damaging |
Het |
| Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
| Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,488,510 (GRCm39) |
D842G |
probably benign |
Het |
| Brd7 |
A |
T |
8: 89,066,035 (GRCm39) |
|
probably null |
Het |
| Btbd7 |
G |
A |
12: 102,761,451 (GRCm39) |
P578L |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,714,398 (GRCm39) |
M2660I |
unknown |
Het |
| Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,391,989 (GRCm39) |
D410G |
probably benign |
Het |
| Foxk2 |
CGGGGGG |
CGGGGGGGGG |
11: 121,151,317 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,814,755 (GRCm39) |
I2703V |
probably benign |
Het |
| Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
| Iqcg |
G |
A |
16: 32,870,378 (GRCm39) |
|
silent |
Het |
| Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
| Lipo5 |
G |
T |
19: 33,445,200 (GRCm39) |
T123N |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,900,765 (GRCm39) |
V313D |
probably damaging |
Het |
| Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
| Neurl1a |
T |
C |
19: 47,228,328 (GRCm39) |
L58P |
probably damaging |
Het |
| Or5aq1 |
C |
T |
2: 86,966,158 (GRCm39) |
C169Y |
probably damaging |
Het |
| Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
| Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
| Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
| Rasal3 |
A |
T |
17: 32,611,125 (GRCm39) |
L912Q |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,153,564 (GRCm39) |
V2247M |
probably damaging |
Het |
| Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,113,579 (GRCm39) |
R313W |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,613,115 (GRCm39) |
D825V |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,079,668 (GRCm39) |
H832R |
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
| Sos1 |
A |
G |
17: 80,705,737 (GRCm39) |
V1278A |
probably damaging |
Het |
| Sstr3 |
C |
A |
15: 78,424,577 (GRCm39) |
V57L |
probably damaging |
Het |
| Tex2 |
T |
A |
11: 106,435,078 (GRCm39) |
R783W |
unknown |
Het |
| Tjp2 |
A |
T |
19: 24,078,190 (GRCm39) |
I901N |
probably benign |
Het |
| Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
| Trim41 |
T |
C |
11: 48,699,911 (GRCm39) |
E98G |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,623 (GRCm39) |
N764K |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,106,434 (GRCm39) |
I471F |
probably damaging |
Het |
| Wdr25 |
G |
A |
12: 108,864,346 (GRCm39) |
V164M |
probably damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTAGAAGTTACTTGTACAACGTC -3'
(R):5'- CAATTTAAAACTGACGGTAGACCAG -3'
Sequencing Primer
(F):5'- AGTTACTTGTACAACGTCAAGTTAC -3'
(R):5'- GGTAGACCAGGGCCAATAACC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation