Incidental Mutation 'R8356:Zdhhc13'
ID |
645777 |
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 |
067870-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8356 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
48438751-48477188 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 48452747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 153
(I153N)
|
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: I153N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112498 Gene: ENSMUSG00000030471 AA Change: I153N
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: I23N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123603 Gene: ENSMUSG00000030471 AA Change: I23N
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,842,360 (GRCm39) |
E1098G |
probably benign |
Het |
Akap1 |
T |
A |
11: 88,725,557 (GRCm39) |
|
probably null |
Het |
Arhgap26 |
T |
C |
18: 39,244,901 (GRCm39) |
V182A |
possibly damaging |
Het |
Arhgef19 |
A |
G |
4: 140,977,926 (GRCm39) |
K545R |
probably benign |
Het |
Asph |
C |
T |
4: 9,537,722 (GRCm39) |
R352Q |
probably benign |
Het |
B3glct |
T |
A |
5: 149,650,254 (GRCm39) |
I119N |
probably damaging |
Het |
Bltp3b |
A |
G |
10: 89,647,954 (GRCm39) |
T1339A |
probably benign |
Het |
Camsap3 |
C |
T |
8: 3,650,679 (GRCm39) |
R236* |
probably null |
Het |
Ccser2 |
A |
T |
14: 36,612,331 (GRCm39) |
M792K |
probably benign |
Het |
Ceacam5 |
C |
T |
7: 17,479,624 (GRCm39) |
T247I |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 66,047,764 (GRCm39) |
S19P |
probably damaging |
Het |
Dtwd1 |
A |
G |
2: 126,000,451 (GRCm39) |
E129G |
probably damaging |
Het |
Ebf3 |
T |
A |
7: 136,800,916 (GRCm39) |
M490L |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,110,789 (GRCm39) |
L1008S |
probably damaging |
Het |
Ereg |
C |
T |
5: 91,237,993 (GRCm39) |
P160S |
possibly damaging |
Het |
Exoc6b |
ATTT |
ATTTT |
6: 84,821,077 (GRCm39) |
|
probably null |
Het |
Fmn1 |
A |
G |
2: 113,195,385 (GRCm39) |
T362A |
unknown |
Het |
Gm14326 |
A |
T |
2: 177,590,312 (GRCm39) |
D16E |
probably benign |
Het |
H1f8 |
A |
T |
6: 115,925,745 (GRCm39) |
M181L |
probably benign |
Het |
H3c1 |
A |
T |
13: 23,946,083 (GRCm39) |
F85Y |
probably damaging |
Het |
Herc6 |
A |
T |
6: 57,575,548 (GRCm39) |
T190S |
probably benign |
Het |
Lama1 |
T |
G |
17: 68,044,491 (GRCm39) |
I130S |
|
Het |
Letm2 |
T |
C |
8: 26,071,729 (GRCm39) |
D391G |
probably damaging |
Het |
Map3k9 |
T |
C |
12: 81,780,892 (GRCm39) |
I423V |
probably damaging |
Het |
Melk |
T |
A |
4: 44,312,191 (GRCm39) |
C168S |
possibly damaging |
Het |
Muc4 |
CAC |
CACTAC |
16: 32,575,367 (GRCm39) |
|
probably benign |
Het |
Naa16 |
A |
T |
14: 79,596,915 (GRCm39) |
N356K |
probably benign |
Het |
Nup214 |
A |
G |
2: 31,929,372 (GRCm39) |
N1873S |
probably benign |
Het |
Or2y1f |
C |
T |
11: 49,184,385 (GRCm39) |
P79L |
probably damaging |
Het |
Or8b41 |
T |
A |
9: 38,054,981 (GRCm39) |
C178* |
probably null |
Het |
Pom121 |
A |
G |
5: 135,410,032 (GRCm39) |
F1042L |
unknown |
Het |
Pramel51 |
T |
A |
12: 88,143,986 (GRCm39) |
T284S |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,061,889 (GRCm39) |
S1334P |
probably damaging |
Het |
Ranbp1 |
C |
T |
16: 18,063,170 (GRCm39) |
E69K |
probably damaging |
Het |
Rasl11a |
T |
C |
5: 146,782,045 (GRCm39) |
S7P |
probably damaging |
Het |
Rev1 |
G |
A |
1: 38,098,324 (GRCm39) |
R740* |
probably null |
Het |
Rnf157 |
C |
T |
11: 116,240,246 (GRCm39) |
V443M |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,291,017 (GRCm39) |
T1910S |
probably benign |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Siah2 |
T |
C |
3: 58,583,503 (GRCm39) |
N261S |
probably benign |
Het |
Sumf2 |
T |
G |
5: 129,889,003 (GRCm39) |
W264G |
possibly damaging |
Het |
Tal1 |
G |
T |
4: 114,920,625 (GRCm39) |
A100S |
probably benign |
Het |
Tox2 |
G |
T |
2: 163,046,550 (GRCm39) |
R9L |
unknown |
Het |
Traj46 |
A |
G |
14: 54,409,795 (GRCm39) |
E1G |
|
Het |
Unc80 |
A |
G |
1: 66,680,788 (GRCm39) |
D2128G |
possibly damaging |
Het |
Usp21 |
A |
T |
1: 171,112,290 (GRCm39) |
F308I |
probably damaging |
Het |
Vgf |
A |
T |
5: 137,061,265 (GRCm39) |
I476F |
probably damaging |
Het |
Vmn1r142 |
T |
A |
7: 21,862,748 (GRCm39) |
H238L |
probably benign |
Het |
Vps35 |
G |
A |
8: 85,987,934 (GRCm39) |
T739I |
possibly damaging |
Het |
Wdr95 |
G |
T |
5: 149,502,572 (GRCm39) |
C279F |
probably damaging |
Het |
Zbtb32 |
T |
C |
7: 30,289,381 (GRCm39) |
S94G |
unknown |
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 |
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 |
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'- GACGTTATTTTGTCCAGCCAG -3'
(R):5'- AGTTCCGAGTATCTGGATAGCC -3'
Sequencing Primer
(F):5'- AGAATCCCTCATGCCTTAGAGGG -3'
(R):5'- CCGAGTATCTGGATAGCCATTAACTC -3'
|
Posted On |
2020-09-02 |