Incidental Mutation 'IGL02330:Zfp738'
| ID |
288643 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp738
|
| Ensembl Gene |
ENSMUSG00000048280 |
| Gene Name |
zinc finger protein 738 |
| Synonyms |
6720487G11Rik, 3830402I07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL02330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67815560-67831631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67819550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 147
(Y147C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110973]
[ENSMUST00000125495]
[ENSMUST00000137496]
[ENSMUST00000175678]
[ENSMUST00000175821]
|
| AlphaFold |
B8JJX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110973
|
| SMART Domains |
Protein: ENSMUSP00000106600
Gene: ENSMUSG00000048280
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
1.97e-31 |
SMART |
|
SCOP:d1fgja_
|
76 |
119 |
1e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125495
|
| SMART Domains |
Protein: ENSMUSP00000135683
Gene: ENSMUSG00000048280
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.97e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137496
AA Change: Y147C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121275
Gene: ENSMUSG00000048280
AA Change: Y147C
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
15 |
75 |
1.97e-31 |
SMART |
|
ZnF_C2H2
|
91 |
111 |
3.13e1 |
SMART |
|
ZnF_C2H2
|
119 |
141 |
9.56e1 |
SMART |
|
ZnF_C2H2
|
147 |
169 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
175 |
197 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
203 |
225 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
231 |
253 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
259 |
281 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
287 |
309 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
315 |
337 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
371 |
393 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
427 |
449 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
623 |
645 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
651 |
673 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
679 |
701 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
735 |
757 |
5.42e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175678
|
| SMART Domains |
Protein: ENSMUSP00000134865
Gene: ENSMUSG00000048280
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
15 |
75 |
1.97e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175821
AA Change: Y137C
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135050
Gene: ENSMUSG00000048280
AA Change: Y137C
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.97e-31 |
SMART |
|
ZnF_C2H2
|
81 |
101 |
3.13e1 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
9.56e1 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
3.21e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225507
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
T |
8: 56,325,398 (GRCm39) |
I352K |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,970,520 (GRCm39) |
N73S |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,181,804 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,328 (GRCm39) |
G500D |
possibly damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,352,224 (GRCm39) |
|
probably benign |
Het |
| Dagla |
T |
G |
19: 10,225,386 (GRCm39) |
D926A |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,816,093 (GRCm39) |
Y538F |
probably damaging |
Het |
| Eng |
T |
A |
2: 32,559,581 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
G |
T |
5: 137,619,579 (GRCm39) |
L99M |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
| Foxp1 |
T |
C |
6: 98,922,373 (GRCm39) |
N453D |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,497,017 (GRCm39) |
D409G |
probably damaging |
Het |
| Hmces |
A |
G |
6: 87,891,517 (GRCm39) |
H8R |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,120 (GRCm39) |
C44R |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,148,740 (GRCm39) |
I294F |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,910,693 (GRCm39) |
S976T |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,367,987 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,686 (GRCm39) |
S273P |
probably damaging |
Het |
| Or10a48 |
A |
T |
7: 108,425,206 (GRCm39) |
|
probably benign |
Het |
| Or1j21 |
C |
T |
2: 36,683,907 (GRCm39) |
H220Y |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,493 (GRCm39) |
S1734F |
possibly damaging |
Het |
| Phc3 |
T |
G |
3: 30,990,530 (GRCm39) |
E562D |
probably damaging |
Het |
| Ralb |
A |
T |
1: 119,399,450 (GRCm39) |
C203S |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Sf3b4 |
A |
T |
3: 96,080,376 (GRCm39) |
T42S |
possibly damaging |
Het |
| Sgsm2 |
T |
C |
11: 74,749,493 (GRCm39) |
T584A |
probably benign |
Het |
| Slco5a1 |
T |
C |
1: 13,009,284 (GRCm39) |
K397R |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,165 (GRCm39) |
Y299H |
possibly damaging |
Het |
| Trip6 |
T |
C |
5: 137,311,620 (GRCm39) |
D119G |
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,977,896 (GRCm39) |
I385N |
possibly damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,969 (GRCm39) |
I287N |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,624,165 (GRCm39) |
L352P |
possibly damaging |
Het |
| Xrn1 |
T |
A |
9: 95,855,401 (GRCm39) |
Y260* |
probably null |
Het |
|
| Other mutations in Zfp738 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01511:Zfp738
|
APN |
13 |
67,831,520 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01734:Zfp738
|
APN |
13 |
67,831,563 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01980:Zfp738
|
APN |
13 |
67,818,096 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02052:Zfp738
|
APN |
13 |
67,819,600 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02686:Zfp738
|
APN |
13 |
67,821,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2505:Zfp738
|
UTSW |
13 |
67,821,186 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0219:Zfp738
|
UTSW |
13 |
67,831,508 (GRCm39) |
intron |
probably benign |
|
|
R0491:Zfp738
|
UTSW |
13 |
67,818,140 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0722:Zfp738
|
UTSW |
13 |
67,819,643 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1116:Zfp738
|
UTSW |
13 |
67,818,362 (GRCm39) |
splice site |
probably null |
|
|
R1425:Zfp738
|
UTSW |
13 |
67,818,894 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1854:Zfp738
|
UTSW |
13 |
67,818,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2095:Zfp738
|
UTSW |
13 |
67,819,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Zfp738
|
UTSW |
13 |
67,819,096 (GRCm39) |
nonsense |
probably null |
|
|
R2180:Zfp738
|
UTSW |
13 |
67,819,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2225:Zfp738
|
UTSW |
13 |
67,818,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2226:Zfp738
|
UTSW |
13 |
67,818,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2907:Zfp738
|
UTSW |
13 |
67,818,231 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3605:Zfp738
|
UTSW |
13 |
67,819,508 (GRCm39) |
nonsense |
probably null |
|
|
R4731:Zfp738
|
UTSW |
13 |
67,818,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5037:Zfp738
|
UTSW |
13 |
67,818,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Zfp738
|
UTSW |
13 |
67,821,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5259:Zfp738
|
UTSW |
13 |
67,817,805 (GRCm39) |
missense |
probably benign |
|
|
R5358:Zfp738
|
UTSW |
13 |
67,819,131 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6404:Zfp738
|
UTSW |
13 |
67,819,179 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6874:Zfp738
|
UTSW |
13 |
67,818,382 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7041:Zfp738
|
UTSW |
13 |
67,818,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Zfp738
|
UTSW |
13 |
67,818,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Zfp738
|
UTSW |
13 |
67,821,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7308:Zfp738
|
UTSW |
13 |
67,817,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7386:Zfp738
|
UTSW |
13 |
67,818,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Zfp738
|
UTSW |
13 |
67,818,474 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7456:Zfp738
|
UTSW |
13 |
67,817,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Zfp738
|
UTSW |
13 |
67,821,080 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7615:Zfp738
|
UTSW |
13 |
67,818,322 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7663:Zfp738
|
UTSW |
13 |
67,831,520 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7752:Zfp738
|
UTSW |
13 |
67,821,110 (GRCm39) |
nonsense |
probably null |
|
|
R7901:Zfp738
|
UTSW |
13 |
67,821,110 (GRCm39) |
nonsense |
probably null |
|
|
R8042:Zfp738
|
UTSW |
13 |
67,819,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8288:Zfp738
|
UTSW |
13 |
67,818,908 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8340:Zfp738
|
UTSW |
13 |
67,819,231 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8735:Zfp738
|
UTSW |
13 |
67,819,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8846:Zfp738
|
UTSW |
13 |
67,818,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8896:Zfp738
|
UTSW |
13 |
67,817,910 (GRCm39) |
missense |
|
|
|
R9124:Zfp738
|
UTSW |
13 |
67,819,457 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9233:Zfp738
|
UTSW |
13 |
67,819,017 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9513:Zfp738
|
UTSW |
13 |
67,817,635 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation