Incidental Mutation 'R4374:Zdhhc13'
ID |
325029 |
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 |
041118-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4374 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
48438751-48477188 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48458589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 308
(Y308H)
|
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: Y308H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112498 Gene: ENSMUSG00000030471 AA Change: Y308H
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 |
possibly damaging
Transcript: ENSMUST00000125280
AA Change: Y178H
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000123603 Gene: ENSMUSG00000030471 AA Change: Y178H
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 |
0.1215 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (38/39) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd2 |
A |
G |
7: 78,973,278 (GRCm39) |
M86V |
probably benign |
Het |
Acin1 |
C |
A |
14: 54,891,351 (GRCm39) |
|
probably benign |
Het |
Aebp2 |
T |
A |
6: 140,599,984 (GRCm39) |
|
probably benign |
Het |
Akap13 |
A |
G |
7: 75,258,732 (GRCm39) |
E452G |
probably damaging |
Het |
Amz1 |
T |
C |
5: 140,738,194 (GRCm39) |
S184P |
possibly damaging |
Het |
Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
Ccdc83 |
A |
T |
7: 89,875,986 (GRCm39) |
L295* |
probably null |
Het |
Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
Cpsf7 |
A |
T |
19: 10,517,001 (GRCm39) |
I368F |
probably damaging |
Het |
Csf1r |
G |
A |
18: 61,252,078 (GRCm39) |
C520Y |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,867,498 (GRCm39) |
D235G |
probably benign |
Het |
Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
Fktn |
T |
C |
4: 53,720,201 (GRCm39) |
S72P |
probably damaging |
Het |
Frem2 |
C |
A |
3: 53,452,923 (GRCm39) |
V2189F |
possibly damaging |
Het |
Gm10845 |
G |
T |
14: 80,100,563 (GRCm39) |
|
noncoding transcript |
Het |
Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,111,513 (GRCm39) |
M2255V |
probably benign |
Het |
Lrsam1 |
G |
T |
2: 32,845,203 (GRCm39) |
T104K |
possibly damaging |
Het |
Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
Myo7a |
G |
A |
7: 97,751,881 (GRCm39) |
T54M |
probably damaging |
Het |
Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
Or5k15 |
A |
C |
16: 58,710,242 (GRCm39) |
C114G |
probably benign |
Het |
Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
Pfkp |
A |
G |
13: 6,671,025 (GRCm39) |
S135P |
probably damaging |
Het |
Phf20l1 |
C |
T |
15: 66,476,686 (GRCm39) |
T260I |
possibly damaging |
Het |
Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
Ppp6r2 |
T |
G |
15: 89,149,361 (GRCm39) |
C216W |
probably damaging |
Het |
Pramel7 |
C |
T |
2: 87,320,415 (GRCm39) |
A293T |
probably benign |
Het |
Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
Setbp1 |
T |
C |
18: 78,903,137 (GRCm39) |
R177G |
probably damaging |
Het |
Sh2b3 |
G |
T |
5: 121,966,549 (GRCm39) |
|
probably benign |
Het |
Tbc1d30 |
A |
G |
10: 121,130,617 (GRCm39) |
F271S |
probably damaging |
Het |
Tpo |
T |
C |
12: 30,153,151 (GRCm39) |
E401G |
possibly damaging |
Het |
Zfp112 |
C |
T |
7: 23,825,798 (GRCm39) |
H589Y |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
probably 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 |
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'- ACCCTACAGTTTAGTCTGGATTG -3'
(R):5'- GGATGCTGTCACATGGTTCAG -3'
Sequencing Primer
(F):5'- CCTTTTAAGAATGCCATTTTTGAGGG -3'
(R):5'- GCTTAATGTCAATTTGAAATTCCAGC -3'
|
Posted On |
2015-07-06 |