Incidental Mutation 'R4288:Zfp748'
| ID |
322109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp748
|
| Ensembl Gene |
ENSMUSG00000095432 |
| Gene Name |
zinc finger protein 748 |
| Synonyms |
KRAB-O, mszf54, Zfp208, 2610014M12Rik |
| MMRRC Submission |
041653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R4288 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67686758-67701257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67689202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 686
(H686L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000181892]
|
| AlphaFold |
Q7TPL6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000053289
|
| SMART Domains |
Protein: ENSMUSP00000080439
Gene: ENSMUSG00000095432
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
3.39e-35 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181892
AA Change: H686L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137928
Gene: ENSMUSG00000095432
AA Change: H686L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
3.39e-35 |
SMART |
|
ZnF_C2H2
|
81 |
101 |
1.59e1 |
SMART |
|
low complexity region
|
133 |
144 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
165 |
187 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
277 |
298 |
7.37e1 |
SMART |
|
ZnF_C2H2
|
304 |
326 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
332 |
354 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
360 |
382 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
472 |
494 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
500 |
522 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
528 |
550 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
556 |
578 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
584 |
606 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
612 |
634 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
640 |
662 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
668 |
690 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
696 |
718 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
724 |
746 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
752 |
774 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
780 |
802 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
808 |
830 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
836 |
858 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
864 |
886 |
7.9e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.4999 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (34/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
G |
A |
1: 127,666,309 (GRCm39) |
V27M |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,227,912 (GRCm39) |
T311A |
probably benign |
Het |
| Adss2 |
G |
A |
1: 177,604,078 (GRCm39) |
R176W |
probably damaging |
Het |
| Akr7a5 |
T |
C |
4: 139,041,415 (GRCm39) |
V108A |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,246,728 (GRCm39) |
D209G |
possibly damaging |
Het |
| Bpnt2 |
A |
C |
4: 4,778,231 (GRCm39) |
V169G |
probably damaging |
Het |
| Cdcp1 |
T |
A |
9: 123,012,693 (GRCm39) |
I285F |
probably damaging |
Het |
| Ctnna2 |
C |
T |
6: 77,582,204 (GRCm39) |
R339Q |
probably damaging |
Het |
| E130308A19Rik |
G |
A |
4: 59,690,308 (GRCm39) |
M47I |
probably benign |
Het |
| Exosc9 |
C |
T |
3: 36,617,365 (GRCm39) |
T373I |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,945,912 (GRCm39) |
S1602T |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
| Fbxo42 |
T |
C |
4: 140,895,207 (GRCm39) |
Y57H |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,531 (GRCm39) |
D102G |
probably benign |
Het |
| Garin5b |
T |
A |
7: 4,773,722 (GRCm39) |
N58Y |
possibly damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,088,922 (GRCm39) |
V381A |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,920,414 (GRCm39) |
A644E |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Lpar5 |
T |
C |
6: 125,058,827 (GRCm39) |
Y183H |
probably benign |
Het |
| Ltn1 |
T |
A |
16: 87,194,876 (GRCm39) |
N1341I |
possibly damaging |
Het |
| Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,149,312 (GRCm39) |
E2516D |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,844,951 (GRCm39) |
V614A |
probably damaging |
Het |
| Pogk |
A |
G |
1: 166,231,075 (GRCm39) |
L84P |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,968,642 (GRCm39) |
T994M |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,941,632 (GRCm39) |
S283G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,457,684 (GRCm39) |
T106A |
probably benign |
Het |
| Vmn1r18 |
A |
G |
6: 57,367,392 (GRCm39) |
L54P |
probably damaging |
Het |
| Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
| Zyg11a |
C |
T |
4: 108,041,666 (GRCm39) |
S658N |
probably damaging |
Het |
|
| Other mutations in Zfp748 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02366:Zfp748
|
APN |
13 |
67,693,546 (GRCm39) |
splice site |
probably benign |
|
|
R0440:Zfp748
|
UTSW |
13 |
67,701,144 (GRCm39) |
splice site |
probably null |
|
|
R0790:Zfp748
|
UTSW |
13 |
67,693,481 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1760:Zfp748
|
UTSW |
13 |
67,693,540 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2520:Zfp748
|
UTSW |
13 |
67,694,781 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3711:Zfp748
|
UTSW |
13 |
67,688,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4157:Zfp748
|
UTSW |
13 |
67,690,225 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4289:Zfp748
|
UTSW |
13 |
67,689,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5091:Zfp748
|
UTSW |
13 |
67,689,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5441:Zfp748
|
UTSW |
13 |
67,688,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Zfp748
|
UTSW |
13 |
67,690,647 (GRCm39) |
nonsense |
probably null |
|
|
R5907:Zfp748
|
UTSW |
13 |
67,689,292 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6210:Zfp748
|
UTSW |
13 |
67,688,923 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6268:Zfp748
|
UTSW |
13 |
67,690,705 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6639:Zfp748
|
UTSW |
13 |
67,691,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6810:Zfp748
|
UTSW |
13 |
67,689,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:Zfp748
|
UTSW |
13 |
67,690,358 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7464:Zfp748
|
UTSW |
13 |
67,690,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Zfp748
|
UTSW |
13 |
67,690,638 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7644:Zfp748
|
UTSW |
13 |
67,689,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7799:Zfp748
|
UTSW |
13 |
67,689,608 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8872:Zfp748
|
UTSW |
13 |
67,689,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9140:Zfp748
|
UTSW |
13 |
67,689,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Zfp748
|
UTSW |
13 |
67,693,511 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9649:Zfp748
|
UTSW |
13 |
67,690,647 (GRCm39) |
nonsense |
probably null |
|
|
R9687:Zfp748
|
UTSW |
13 |
67,690,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9749:Zfp748
|
UTSW |
13 |
67,690,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGAGCGAGTACAAAAGTCCTTG -3'
(R):5'- TACTCGCTCAGGACGTTCC -3'
Sequencing Primer
(F):5'- CCCAGTATGACCTAATTTGTGCTGAG -3'
(R):5'- GCTCAGGACGTTCCAGACAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation