Incidental Mutation 'R5052:Zdhhc13'
ID |
455748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zdhhc13
|
Ensembl Gene |
ENSMUSG00000030471 |
Gene Name |
zinc finger, DHHC domain containing 13 |
Synonyms |
Hip14l, kojak, skc4, 2410004E01Rik |
MMRRC Submission |
042642-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5052 (G1)
|
Quality Score |
223 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
48438751-48477188 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48474479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 577
(N577S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118927]
[ENSMUST00000125280]
|
AlphaFold |
Q9CWU2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118927
AA Change: N577S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112498 Gene: ENSMUSG00000030471 AA Change: N577S
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 |
|
Meta Mutation Damage Score |
0.8434 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 94.8%
- 20x: 86.2%
|
Validation Efficiency |
100% (58/58) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
A |
T |
3: 121,563,162 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,676,940 (GRCm39) |
T1964A |
probably damaging |
Het |
Agbl5 |
C |
T |
5: 31,048,558 (GRCm39) |
T210I |
possibly damaging |
Het |
Ak5 |
T |
C |
3: 152,366,204 (GRCm39) |
T66A |
probably benign |
Het |
Aktip |
G |
A |
8: 91,856,279 (GRCm39) |
T66I |
possibly damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,344,556 (GRCm39) |
Y330C |
possibly damaging |
Het |
Btbd19 |
T |
G |
4: 116,979,454 (GRCm39) |
K122Q |
possibly damaging |
Het |
Cd180 |
A |
G |
13: 102,841,403 (GRCm39) |
T150A |
probably benign |
Het |
Celsr2 |
A |
G |
3: 108,319,674 (GRCm39) |
I1046T |
probably damaging |
Het |
Cep170 |
C |
T |
1: 176,621,117 (GRCm39) |
R20Q |
probably damaging |
Het |
Cercam |
T |
A |
2: 29,765,639 (GRCm39) |
N260K |
probably damaging |
Het |
Cfh |
T |
A |
1: 140,071,782 (GRCm39) |
H284L |
probably damaging |
Het |
Chmp5 |
A |
G |
4: 40,948,608 (GRCm39) |
M1V |
probably null |
Het |
Elp3 |
A |
T |
14: 65,815,389 (GRCm39) |
I220N |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,331,416 (GRCm39) |
T765A |
probably damaging |
Het |
Evi5l |
T |
C |
8: 4,256,019 (GRCm39) |
|
probably benign |
Het |
Gm5866 |
T |
G |
5: 52,740,234 (GRCm39) |
|
noncoding transcript |
Het |
Grik1 |
C |
A |
16: 87,746,986 (GRCm39) |
G417V |
probably benign |
Het |
Gtpbp1 |
T |
G |
15: 79,600,170 (GRCm39) |
I399R |
probably damaging |
Het |
Il17rc |
T |
C |
6: 113,449,284 (GRCm39) |
C14R |
probably damaging |
Het |
Ipo9 |
T |
C |
1: 135,316,349 (GRCm39) |
|
probably null |
Het |
Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
Map3k15 |
T |
C |
X: 158,771,742 (GRCm39) |
V105A |
possibly damaging |
Het |
Mitf |
A |
G |
6: 97,987,406 (GRCm39) |
T320A |
possibly damaging |
Het |
Ncapd3 |
T |
G |
9: 26,963,015 (GRCm39) |
L440R |
probably damaging |
Het |
Nrxn2 |
C |
G |
19: 6,505,234 (GRCm39) |
A359G |
probably damaging |
Het |
P2rx3 |
T |
G |
2: 84,829,368 (GRCm39) |
I371L |
probably benign |
Het |
Pde1b |
C |
A |
15: 103,436,075 (GRCm39) |
Q493K |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,709,846 (GRCm39) |
F1503S |
probably damaging |
Het |
Ptprz1 |
T |
G |
6: 23,045,625 (GRCm39) |
W1283G |
probably damaging |
Het |
Rasd2 |
T |
A |
8: 75,948,564 (GRCm39) |
D163E |
possibly damaging |
Het |
Rgs11 |
A |
G |
17: 26,426,947 (GRCm39) |
|
probably benign |
Het |
Scap |
T |
C |
9: 110,182,220 (GRCm39) |
I37T |
possibly damaging |
Het |
Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
Slc25a54 |
A |
G |
3: 109,010,016 (GRCm39) |
I172V |
probably benign |
Het |
Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,336,744 (GRCm39) |
D171E |
probably damaging |
Het |
Tmco4 |
A |
G |
4: 138,785,817 (GRCm39) |
E629G |
probably benign |
Het |
Trav7-1 |
T |
G |
14: 52,892,765 (GRCm39) |
L106R |
possibly damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Utf1 |
T |
C |
7: 139,524,814 (GRCm39) |
|
probably benign |
Het |
Zmym6 |
A |
G |
4: 127,017,767 (GRCm39) |
N1183D |
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 |
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 |
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'- TGCGCTTTCAAGAATAGTAGAGCC -3'
(R):5'- TGGAGAATCCCCATCTTGGC -3'
Sequencing Primer
(F):5'- CTTTCAAGAATAGTAGAGCCATGATG -3'
(R):5'- CCAGTGGACTGAATTCCTGAC -3'
|
Posted On |
2017-02-13 |