Incidental Mutation 'R8288:Zfp738'
| ID |
638540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp738
|
| Ensembl Gene |
ENSMUSG00000048280 |
| Gene Name |
zinc finger protein 738 |
| Synonyms |
6720487G11Rik, 3830402I07Rik |
| MMRRC Submission |
067710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R8288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67815560-67831631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67818908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 361
(H361L)
|
| 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: H361L
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121275
Gene: ENSMUSG00000048280
AA Change: H361L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
C |
T |
8: 23,283,153 (GRCm39) |
A200T |
probably benign |
Het |
| Arpp19 |
T |
C |
9: 74,944,914 (GRCm39) |
M1T |
probably null |
Het |
| Baiap2 |
T |
A |
11: 119,888,465 (GRCm39) |
V407E |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,446,073 (GRCm39) |
T508A |
probably damaging |
Het |
| Cnnm3 |
C |
A |
1: 36,551,074 (GRCm39) |
A28E |
possibly damaging |
Het |
| Cpb1 |
A |
T |
3: 20,319,531 (GRCm39) |
C184* |
probably null |
Het |
| Ddb1 |
T |
C |
19: 10,585,712 (GRCm39) |
V142A |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,620,762 (GRCm39) |
V498A |
probably damaging |
Het |
| Dmgdh |
T |
C |
13: 93,845,332 (GRCm39) |
Y442H |
probably damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,177,345 (GRCm39) |
F811S |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,502,604 (GRCm39) |
M722K |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,337,509 (GRCm39) |
F603S |
probably damaging |
Het |
| Filip1l |
C |
T |
16: 57,390,917 (GRCm39) |
R502C |
probably damaging |
Het |
| Gbp9 |
C |
T |
5: 105,253,599 (GRCm39) |
V39M |
probably damaging |
Het |
| Gm17079 |
T |
C |
14: 51,931,815 (GRCm39) |
Y98C |
|
Het |
| Gstz1 |
A |
G |
12: 87,194,604 (GRCm39) |
M1V |
probably null |
Het |
| Hsd17b13 |
T |
G |
5: 104,111,701 (GRCm39) |
I281L |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,233,661 (GRCm39) |
E1833G |
probably damaging |
Het |
| Irs1 |
G |
A |
1: 82,265,682 (GRCm39) |
Q845* |
probably null |
Het |
| Kctd11 |
C |
T |
11: 69,770,883 (GRCm39) |
G52R |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,815,149 (GRCm39) |
S962P |
probably damaging |
Het |
| Lrrn1 |
C |
T |
6: 107,543,955 (GRCm39) |
|
probably benign |
Het |
| Mastl |
T |
C |
2: 23,023,371 (GRCm39) |
K451E |
probably damaging |
Het |
| Mptx2 |
A |
G |
1: 173,102,356 (GRCm39) |
V111A |
probably benign |
Het |
| Nuak2 |
G |
T |
1: 132,255,579 (GRCm39) |
C178F |
probably damaging |
Het |
| Pah |
G |
A |
10: 87,374,047 (GRCm39) |
R71H |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,762,885 (GRCm39) |
T501K |
|
Het |
| Pla2g4e |
C |
T |
2: 120,018,990 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
G |
16: 36,848,272 (GRCm39) |
E293G |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,748,763 (GRCm39) |
E782K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,506,318 (GRCm39) |
R1524W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,203,237 (GRCm39) |
S46P |
probably benign |
Het |
| Srcap |
T |
A |
7: 127,130,528 (GRCm39) |
I664N |
probably damaging |
Het |
| Stk24 |
A |
C |
14: 121,530,841 (GRCm39) |
F372V |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,246,973 (GRCm39) |
S881G |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,210 (GRCm39) |
D161G |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,860,643 (GRCm39) |
H234R |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,603,434 (GRCm39) |
K366R |
probably damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,149,316 (GRCm39) |
L189P |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,512,509 (GRCm39) |
S140G |
probably benign |
Het |
| Zfp446 |
A |
G |
7: 12,711,885 (GRCm39) |
E36G |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACACTGGAATGGTTTCTCT -3'
(R):5'- TACAAGTGTGAGGTATGTGGCAA -3'
Sequencing Primer
(F):5'- GCCACATACTTCACACTTGTAGGG -3'
(R):5'- AGGCCTTCCATTATCCATCAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation