Incidental Mutation 'IGL01980:Zfp738'
ID |
182715 |
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 # |
IGL01980
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
67815560-67831631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67818096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 632
(F632L)
|
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 |
possibly damaging
Transcript: ENSMUST00000137496
AA Change: F632L
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000121275 Gene: ENSMUSG00000048280 AA Change: F632L
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 benign
Transcript: ENSMUST00000175821
|
SMART Domains |
Protein: ENSMUSP00000135050 Gene: ENSMUSG00000048280
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd60 |
C |
T |
2: 173,412,996 (GRCm39) |
C164Y |
probably benign |
Het |
Atp13a2 |
C |
T |
4: 140,733,463 (GRCm39) |
A979V |
probably benign |
Het |
Col5a2 |
C |
T |
1: 45,421,393 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,658,184 (GRCm39) |
N676S |
probably damaging |
Het |
Cpa1 |
T |
C |
6: 30,641,581 (GRCm39) |
F192L |
possibly damaging |
Het |
Entpd6 |
T |
A |
2: 150,604,286 (GRCm39) |
|
probably null |
Het |
Fam185a |
A |
G |
5: 21,664,171 (GRCm39) |
K302E |
probably damaging |
Het |
Il12rb2 |
T |
C |
6: 67,337,519 (GRCm39) |
K121E |
probably benign |
Het |
Impg2 |
G |
A |
16: 56,041,890 (GRCm39) |
C178Y |
probably damaging |
Het |
Kdm3b |
G |
T |
18: 34,967,289 (GRCm39) |
C1698F |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,740,851 (GRCm39) |
D451G |
probably damaging |
Het |
Mgat4b |
T |
A |
11: 50,121,540 (GRCm39) |
L52Q |
probably damaging |
Het |
Mmp9 |
C |
A |
2: 164,792,836 (GRCm39) |
S363R |
probably benign |
Het |
Mtfmt |
A |
G |
9: 65,344,356 (GRCm39) |
Y94C |
probably benign |
Het |
Myo7b |
G |
A |
18: 32,094,953 (GRCm39) |
L1881F |
possibly damaging |
Het |
Or51a10 |
A |
T |
7: 103,699,300 (GRCm39) |
M87K |
probably benign |
Het |
Or6c6 |
G |
T |
10: 129,187,386 (GRCm39) |
|
probably benign |
Het |
Pex5 |
T |
C |
6: 124,375,339 (GRCm39) |
N524S |
probably damaging |
Het |
Plppr1 |
A |
T |
4: 49,319,992 (GRCm39) |
Y206F |
possibly damaging |
Het |
Polr3e |
A |
G |
7: 120,539,519 (GRCm39) |
|
probably benign |
Het |
Rhbdd1 |
A |
G |
1: 82,318,555 (GRCm39) |
|
probably benign |
Het |
Rims4 |
A |
T |
2: 163,707,702 (GRCm39) |
|
probably benign |
Het |
Smarcal1 |
A |
T |
1: 72,655,679 (GRCm39) |
K653* |
probably null |
Het |
Stt3b |
C |
T |
9: 115,105,767 (GRCm39) |
|
probably null |
Het |
Syt8 |
C |
A |
7: 141,993,877 (GRCm39) |
L343M |
probably damaging |
Het |
Tbc1d23 |
G |
A |
16: 57,009,615 (GRCm39) |
|
probably benign |
Het |
Tfec |
T |
C |
6: 16,845,465 (GRCm39) |
I65V |
probably damaging |
Het |
Tmem236 |
A |
T |
2: 14,223,716 (GRCm39) |
Q168H |
probably benign |
Het |
Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
Tnip2 |
A |
G |
5: 34,654,212 (GRCm39) |
V288A |
probably benign |
Het |
Ttc1 |
G |
A |
11: 43,621,291 (GRCm39) |
|
probably benign |
Het |
Tubb4b-ps1 |
A |
C |
5: 7,229,843 (GRCm39) |
|
probably benign |
Het |
Tut1 |
T |
C |
19: 8,931,364 (GRCm39) |
C21R |
probably damaging |
Het |
Ubr4 |
C |
A |
4: 139,156,913 (GRCm39) |
Q2313K |
probably damaging |
Het |
Unc5b |
T |
C |
10: 60,615,966 (GRCm39) |
E119G |
probably damaging |
Het |
Vmn1r23 |
T |
A |
6: 57,903,475 (GRCm39) |
Q101L |
probably damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,450,678 (GRCm39) |
D188G |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,686,290 (GRCm39) |
E557G |
possibly damaging |
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 |
|
IGL02052:Zfp738
|
APN |
13 |
67,819,600 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02330:Zfp738
|
APN |
13 |
67,819,550 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2014-05-07 |