Incidental Mutation 'R9346:Zdhhc13'
| ID |
707800 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
48438751-48477188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48472328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 495
(N495K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118927]
[ENSMUST00000125280]
|
| AlphaFold |
Q9CWU2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118927
AA Change: N495K
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471
AA Change: N495K
| 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: N365K
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000123603
Gene: ENSMUSG00000030471
AA Change: N365K
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (45/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
T |
11: 58,179,095 (GRCm39) |
C143F |
|
Het |
| Adam8 |
T |
C |
7: 139,567,634 (GRCm39) |
I370V |
probably benign |
Het |
| Adamts1 |
T |
A |
16: 85,599,420 (GRCm39) |
D60V |
possibly damaging |
Het |
| Adh5 |
G |
A |
3: 138,157,203 (GRCm39) |
V255I |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,185,792 (GRCm39) |
I37T |
probably benign |
Het |
| Arnt2 |
C |
T |
7: 83,931,321 (GRCm39) |
R383Q |
probably benign |
Het |
| Arrb1 |
T |
A |
7: 99,242,207 (GRCm39) |
Y238* |
probably null |
Het |
| Brdt |
T |
C |
5: 107,524,880 (GRCm39) |
I807T |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,818,880 (GRCm39) |
Q1247L |
possibly damaging |
Het |
| Carmil3 |
T |
C |
14: 55,732,141 (GRCm39) |
Y213H |
probably damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,927,953 (GRCm39) |
T1163S |
probably benign |
Het |
| Cfl1 |
T |
A |
19: 5,543,641 (GRCm39) |
L206Q |
probably benign |
Het |
| Chga |
A |
G |
12: 102,525,548 (GRCm39) |
D63G |
probably damaging |
Het |
| Dennd1a |
T |
C |
2: 37,911,447 (GRCm39) |
D180G |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,577,702 (GRCm39) |
|
probably null |
Het |
| Fam171a2 |
C |
T |
11: 102,328,771 (GRCm39) |
V663M |
possibly damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Gimap9 |
C |
A |
6: 48,654,492 (GRCm39) |
N26K |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,273,663 (GRCm39) |
F769L |
probably damaging |
Het |
| Gtf2i |
G |
T |
5: 134,315,781 (GRCm39) |
H164N |
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,257,439 (GRCm39) |
T797I |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,700,233 (GRCm39) |
S188G |
possibly damaging |
Het |
| Krt82 |
A |
G |
15: 101,458,959 (GRCm39) |
M27T |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,252,204 (GRCm39) |
K216E |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,100,495 (GRCm39) |
Q95R |
probably benign |
Het |
| Or1e1c |
T |
C |
11: 73,266,129 (GRCm39) |
S188P |
probably benign |
Het |
| Or4c102 |
T |
A |
2: 88,423,062 (GRCm39) |
S305T |
probably benign |
Het |
| Pon1 |
C |
A |
6: 5,193,722 (GRCm39) |
V10L |
probably benign |
Het |
| Ptk2b |
T |
A |
14: 66,415,541 (GRCm39) |
N252Y |
possibly damaging |
Het |
| Rad51 |
G |
A |
2: 118,949,093 (GRCm39) |
C31Y |
probably benign |
Het |
| Sbf2 |
A |
G |
7: 109,919,946 (GRCm39) |
F1525L |
probably benign |
Het |
| Sec11a |
T |
C |
7: 80,557,760 (GRCm39) |
D173G |
unknown |
Het |
| Sftpd |
C |
T |
14: 40,896,466 (GRCm39) |
R239H |
probably benign |
Het |
| Shq1 |
T |
A |
6: 100,641,431 (GRCm39) |
Y150F |
probably damaging |
Het |
| Slc39a11 |
A |
G |
11: 113,414,449 (GRCm39) |
V50A |
probably damaging |
Het |
| Snrnp25 |
A |
T |
11: 32,155,622 (GRCm39) |
M1L |
probably benign |
Het |
| Tgm6 |
A |
T |
2: 129,983,776 (GRCm39) |
K312* |
probably null |
Het |
| Tln1 |
C |
A |
4: 43,546,895 (GRCm39) |
R827L |
probably damaging |
Het |
| Trim37 |
A |
T |
11: 87,057,426 (GRCm39) |
|
probably null |
Het |
| Zfp280b |
C |
T |
10: 75,875,126 (GRCm39) |
T335I |
possibly damaging |
Het |
| Zfp583 |
T |
A |
7: 6,328,542 (GRCm39) |
T16S |
probably benign |
Het |
| Zgpat |
C |
A |
2: 181,021,844 (GRCm39) |
D423E |
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 |
|
|
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 |
|
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'- CTGGCATTTAGAAAGCAAACTTCTG -3'
(R):5'- CATTCAGAGCCATTTGAGAAATACC -3'
Sequencing Primer
(F):5'- AGGCTCGTGTATGCTAAGGATAC -3'
(R):5'- AGCCATTTGAGAAATACCTGAAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation