Incidental Mutation 'R6639:Zfp748'
| ID |
525665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp748
|
| Ensembl Gene |
ENSMUSG00000095432 |
| Gene Name |
zinc finger protein 748 |
| Synonyms |
KRAB-O, mszf54, Zfp208, 2610014M12Rik |
| MMRRC Submission |
044760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R6639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67686758-67701257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67691024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 79
(K79E)
|
| 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: K79E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137928
Gene: ENSMUSG00000095432
AA Change: K79E
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
G |
10: 10,311,700 (GRCm39) |
I238L |
possibly damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,297,818 (GRCm39) |
Y313C |
probably damaging |
Het |
| Capn15 |
C |
T |
17: 26,179,152 (GRCm39) |
V940I |
probably benign |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,536,530 (GRCm38) |
S226P |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,411,909 (GRCm39) |
E1245G |
probably benign |
Het |
| Depdc7 |
C |
T |
2: 104,555,098 (GRCm39) |
D271N |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,854,870 (GRCm39) |
D10G |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,708,243 (GRCm39) |
E158G |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,530,481 (GRCm39) |
G227D |
probably benign |
Het |
| Epha1 |
C |
A |
6: 42,342,869 (GRCm39) |
E227* |
probably null |
Het |
| Fbxo40 |
A |
T |
16: 36,790,937 (GRCm39) |
C58S |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,196,479 (GRCm39) |
T611A |
unknown |
Het |
| Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,813,571 (GRCm39) |
D3297N |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,879,537 (GRCm39) |
R930G |
possibly damaging |
Het |
| Hdac4 |
A |
T |
1: 91,898,670 (GRCm39) |
C695S |
probably damaging |
Het |
| Ier2 |
G |
A |
8: 85,388,791 (GRCm39) |
T197M |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,552,496 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,567,562 (GRCm39) |
D207G |
possibly damaging |
Het |
| Khdrbs2 |
A |
T |
1: 32,506,943 (GRCm39) |
R196* |
probably null |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,883 (GRCm39) |
Q225* |
probably null |
Het |
| Or14j3 |
A |
G |
17: 37,900,822 (GRCm39) |
C141R |
probably damaging |
Het |
| Or1n2 |
G |
A |
2: 36,797,690 (GRCm39) |
C244Y |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 152,857,191 (GRCm39) |
E17G |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,676,200 (GRCm39) |
P354S |
probably benign |
Het |
| Sh3rf3 |
T |
A |
10: 58,919,289 (GRCm39) |
Y469N |
probably damaging |
Het |
| Thoc6 |
T |
A |
17: 23,889,428 (GRCm39) |
|
probably null |
Het |
| Tpm3 |
C |
G |
3: 89,987,109 (GRCm39) |
A24G |
probably damaging |
Het |
| Tuft1 |
T |
C |
3: 94,539,930 (GRCm39) |
M93V |
probably benign |
Het |
| Vmn1r22 |
T |
C |
6: 57,877,699 (GRCm39) |
I93V |
probably benign |
Het |
| Zfp383 |
T |
C |
7: 29,614,152 (GRCm39) |
S136P |
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 |
|
|
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 |
|
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 |
|
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'- CATTCTTCACACTTGCAGGC -3'
(R):5'- ATGGTGCAGCTTTCTTTGCTAC -3'
Sequencing Primer
(F):5'- GCAGGCTTTCTCTTCCGTATCG -3'
(R):5'- ACTCCATAGTGAATATAGGTGTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation