Incidental Mutation 'R8340:Zfp738'
| ID |
644856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp738
|
| Ensembl Gene |
ENSMUSG00000048280 |
| Gene Name |
zinc finger protein 738 |
| Synonyms |
6720487G11Rik, 3830402I07Rik |
| MMRRC Submission |
067864-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R8340 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67815560-67831631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 67819231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 253
(H253Q)
|
| 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: H253Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121275
Gene: ENSMUSG00000048280
AA Change: H253Q
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
C |
T |
7: 81,435,839 (GRCm39) |
V91M |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,044,435 (GRCm39) |
V57A |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,184,112 (GRCm39) |
Y392C |
probably damaging |
Het |
| Armc6 |
T |
G |
8: 70,673,502 (GRCm39) |
N407T |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,005,670 (GRCm39) |
V484A |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,202,476 (GRCm39) |
V716A |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,670,013 (GRCm39) |
E550G |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,070,297 (GRCm39) |
S512P |
possibly damaging |
Het |
| Chac2 |
C |
G |
11: 30,927,511 (GRCm39) |
G136A |
probably damaging |
Het |
| Crhr2 |
C |
T |
6: 55,079,831 (GRCm39) |
V170M |
probably damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,060,831 (GRCm39) |
D104V |
possibly damaging |
Het |
| Dhtkd1 |
T |
A |
2: 5,924,408 (GRCm39) |
S402C |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,876,856 (GRCm39) |
I4099V |
unknown |
Het |
| Etv3 |
A |
G |
3: 87,443,856 (GRCm39) |
D480G |
possibly damaging |
Het |
| Fam186b |
A |
T |
15: 99,177,595 (GRCm39) |
I577K |
probably benign |
Het |
| Foxe1 |
T |
C |
4: 46,344,437 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Gsdma |
T |
A |
11: 98,557,421 (GRCm39) |
V120E |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,234,946 (GRCm39) |
S153R |
probably damaging |
Het |
| Isx |
T |
A |
8: 75,616,688 (GRCm39) |
I105N |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,042,257 (GRCm39) |
E3D |
probably benign |
Het |
| Mkln1 |
G |
T |
6: 31,409,878 (GRCm39) |
R172L |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,192,705 (GRCm39) |
S605T |
probably benign |
Het |
| Nell1 |
T |
A |
7: 49,870,021 (GRCm39) |
D232E |
probably damaging |
Het |
| Nemf |
T |
G |
12: 69,400,659 (GRCm39) |
T139P |
possibly damaging |
Het |
| Nrdc |
A |
C |
4: 108,858,351 (GRCm39) |
K108Q |
probably damaging |
Het |
| Or10c1 |
G |
T |
17: 37,522,075 (GRCm39) |
T223N |
possibly damaging |
Het |
| Or14j3 |
T |
C |
17: 37,901,034 (GRCm39) |
D70G |
probably damaging |
Het |
| Or3a10 |
G |
T |
11: 73,935,851 (GRCm39) |
P83Q |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,613,851 (GRCm39) |
S599P |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,130 (GRCm39) |
N224S |
probably benign |
Het |
| Poln |
A |
G |
5: 34,307,118 (GRCm39) |
S28P |
probably damaging |
Het |
| Prr36 |
A |
G |
8: 4,264,224 (GRCm39) |
S481P |
unknown |
Het |
| Scrn1 |
G |
A |
6: 54,511,518 (GRCm39) |
A74V |
possibly damaging |
Het |
| Slc22a22 |
T |
A |
15: 57,127,086 (GRCm39) |
|
probably null |
Het |
| Srpra |
A |
G |
9: 35,127,102 (GRCm39) |
D592G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,926,036 (GRCm39) |
N915D |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,759,458 (GRCm39) |
K1109* |
probably null |
Het |
| Tsks |
C |
T |
7: 44,602,144 (GRCm39) |
R287W |
probably damaging |
Het |
| Ush1c |
T |
G |
7: 45,860,630 (GRCm39) |
M456L |
probably benign |
Het |
| Usp38 |
A |
G |
8: 81,712,031 (GRCm39) |
V668A |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,679,511 (GRCm39) |
Q571L |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,322,006 (GRCm39) |
D230E |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,829,972 (GRCm39) |
G60S |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,217,036 (GRCm39) |
D456G |
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 |
|
R8288:Zfp738
|
UTSW |
13 |
67,818,908 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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'- TGACAGAGAACGGAAAGCCT -3'
(R):5'- TTCCAACATCCATCAAGACTTTCCA -3'
Sequencing Primer
(F):5'- CGGAAAGCCTTTTGACATACTTCAC -3'
(R):5'- TCCATCAAGACTTTCCAGACATAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation