Incidental Mutation 'R0790:Zfp748'
| ID |
76446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp748
|
| Ensembl Gene |
ENSMUSG00000095432 |
| Gene Name |
zinc finger protein 748 |
| Synonyms |
KRAB-O, mszf54, Zfp208, 2610014M12Rik |
| MMRRC Submission |
038970-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R0790 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67686758-67701257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 67693481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Tryptophan
at position 64
(L64W)
|
| 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 benign
Transcript: ENSMUST00000181892
AA Change: L64W
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000137928
Gene: ENSMUSG00000095432
AA Change: L64W
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.0%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
A |
G |
12: 8,060,245 (GRCm39) |
E2876G |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,117,914 (GRCm39) |
S585P |
possibly damaging |
Het |
| Atp11b |
T |
A |
3: 35,887,072 (GRCm39) |
N685K |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,201,475 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
T |
A |
1: 54,316,935 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
A |
G |
18: 34,784,666 (GRCm39) |
I32T |
possibly damaging |
Het |
| Cdca2 |
C |
T |
14: 67,917,740 (GRCm39) |
D553N |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,441,482 (GRCm39) |
D870G |
probably benign |
Het |
| Chit1 |
T |
G |
1: 134,066,490 (GRCm39) |
V2G |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Cpsf4l |
A |
G |
11: 113,597,234 (GRCm39) |
|
probably benign |
Het |
| Etaa1 |
G |
T |
11: 17,896,051 (GRCm39) |
Q689K |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,875,241 (GRCm39) |
V699I |
probably benign |
Het |
| Fry |
A |
G |
5: 150,389,902 (GRCm39) |
D2545G |
probably benign |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,878 (GRCm39) |
|
probably benign |
Het |
| Lifr |
A |
G |
15: 7,215,196 (GRCm39) |
T768A |
probably benign |
Het |
| Mrap2 |
T |
C |
9: 87,064,835 (GRCm39) |
L192P |
possibly damaging |
Het |
| Myo18a |
G |
A |
11: 77,731,535 (GRCm39) |
R840Q |
possibly damaging |
Het |
| Myrfl |
T |
C |
10: 116,653,693 (GRCm39) |
D458G |
probably damaging |
Het |
| Or12j4 |
T |
C |
7: 140,046,962 (GRCm39) |
S283P |
possibly damaging |
Het |
| Or51s1 |
A |
G |
7: 102,558,843 (GRCm39) |
Y68H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,466,885 (GRCm39) |
E1034G |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,542,964 (GRCm39) |
|
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,005,172 (GRCm39) |
V202A |
possibly damaging |
Het |
| Raet1d |
T |
C |
10: 22,246,795 (GRCm39) |
I41T |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,637,589 (GRCm39) |
L5Q |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,782,292 (GRCm39) |
Y145H |
probably damaging |
Het |
| Smad7 |
C |
T |
18: 75,526,933 (GRCm39) |
H260Y |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,548,653 (GRCm39) |
V407A |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,736,575 (GRCm39) |
V218A |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,092,289 (GRCm39) |
Y499F |
probably damaging |
Het |
| Vrk1 |
C |
T |
12: 106,036,883 (GRCm39) |
P390S |
probably benign |
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 |
|
|
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 |
|
R4288:Zfp748
|
UTSW |
13 |
67,689,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTCCATTGAAAGGCAGACTCTCAGC -3'
(R):5'- GATCCTCTCCATGCCTGCAATAGC -3'
Sequencing Primer
(F):5'- TGTAAACCTAAGCAGAATCCTCTGG -3'
(R):5'- TGCCTGCAATAGCAGAGTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation