Incidental Mutation 'IGL00093:Zfp715'
| ID |
1499 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp715
|
| Ensembl Gene |
ENSMUSG00000012640 |
| Gene Name |
zinc finger protein 715 |
| Synonyms |
2610041B18Rik, mszf15 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL00093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
42945946-42962724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42949173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 262
(H262Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012796]
[ENSMUST00000048015]
[ENSMUST00000107986]
[ENSMUST00000135130]
[ENSMUST00000139061]
[ENSMUST00000145622]
|
| AlphaFold |
G3X9T1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012796
|
| SMART Domains |
Protein: ENSMUSP00000012796
Gene: ENSMUSG00000012640
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
48 |
108 |
3.87e-30 |
SMART |
|
ZnF_C2H2
|
124 |
146 |
3.39e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048015
AA Change: H262Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000040282
Gene: ENSMUSG00000012640
AA Change: H262Q
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
48 |
108 |
3.87e-30 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
552 |
574 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
580 |
602 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
608 |
630 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
636 |
658 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
691 |
713 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
719 |
741 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
747 |
769 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
775 |
797 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
803 |
825 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
831 |
853 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
859 |
881 |
2.09e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107986
AA Change: H262Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103620
Gene: ENSMUSG00000012640
AA Change: H262Q
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
48 |
108 |
3.87e-30 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
552 |
574 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
580 |
602 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
608 |
630 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
636 |
658 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
691 |
713 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
719 |
741 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
747 |
769 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
775 |
797 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
803 |
825 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
831 |
853 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
859 |
881 |
2.09e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135130
|
| SMART Domains |
Protein: ENSMUSP00000122812
Gene: ENSMUSG00000012640
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
48 |
88 |
5.49e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139061
|
| SMART Domains |
Protein: ENSMUSP00000114600
Gene: ENSMUSG00000012640
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
48 |
108 |
3.87e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145622
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151659
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
C |
16: 21,472,310 (GRCm39) |
D60G |
probably damaging |
Het |
| Abca2 |
T |
A |
2: 25,335,975 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
C |
T |
10: 61,065,455 (GRCm39) |
R348H |
probably damaging |
Het |
| Aimp2 |
A |
T |
5: 143,843,524 (GRCm39) |
I22N |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,653,405 (GRCm39) |
|
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,860,575 (GRCm39) |
Y684N |
possibly damaging |
Het |
| Cfap300 |
A |
G |
9: 8,022,433 (GRCm39) |
V263A |
probably benign |
Het |
| Cldn6 |
T |
A |
17: 23,900,698 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,450,130 (GRCm39) |
M30V |
probably benign |
Het |
| Dcaf17 |
G |
A |
2: 70,908,503 (GRCm39) |
E243K |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,669,836 (GRCm39) |
Y257H |
probably damaging |
Het |
| Dnai3 |
C |
T |
3: 145,788,759 (GRCm39) |
G274E |
probably benign |
Het |
| Dzank1 |
A |
T |
2: 144,323,645 (GRCm39) |
Y600* |
probably null |
Het |
| Flvcr1 |
T |
A |
1: 190,747,686 (GRCm39) |
R201* |
probably null |
Het |
| Fstl4 |
G |
A |
11: 53,077,102 (GRCm39) |
V620I |
probably benign |
Het |
| Gm21976 |
G |
A |
13: 98,439,069 (GRCm39) |
V20M |
probably benign |
Het |
| Ifi208 |
T |
C |
1: 173,506,604 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
T |
C |
4: 74,263,738 (GRCm39) |
V674A |
probably benign |
Het |
| Lig1 |
T |
A |
7: 13,035,378 (GRCm39) |
Y612* |
probably null |
Het |
| Marco |
A |
G |
1: 120,413,432 (GRCm39) |
V295A |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,150,162 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,779,075 (GRCm39) |
L41P |
probably damaging |
Het |
| Or51a42 |
T |
C |
7: 103,708,623 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or6c217 |
T |
A |
10: 129,738,528 (GRCm39) |
D17V |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,911,971 (GRCm39) |
M245T |
unknown |
Het |
| Pomt1 |
A |
G |
2: 32,131,784 (GRCm39) |
I158V |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,646,727 (GRCm39) |
W967R |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,875,533 (GRCm39) |
M270K |
possibly damaging |
Het |
| Spats2 |
A |
G |
15: 99,078,474 (GRCm39) |
E179G |
possibly damaging |
Het |
| Tapbp |
T |
C |
17: 34,138,866 (GRCm39) |
V11A |
probably benign |
Het |
| Tasor |
T |
G |
14: 27,170,163 (GRCm39) |
L364R |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,522,696 (GRCm39) |
F185S |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,893,198 (GRCm39) |
I901V |
probably damaging |
Het |
| Tulp2 |
A |
G |
7: 45,171,332 (GRCm39) |
N371S |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,854 (GRCm39) |
V433D |
probably damaging |
Het |
| Wasf3 |
G |
A |
5: 146,392,461 (GRCm39) |
R177Q |
probably damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,738 (GRCm39) |
I194T |
probably damaging |
Het |
|
| Other mutations in Zfp715 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Zfp715
|
APN |
7 |
42,949,208 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03401:Zfp715
|
APN |
7 |
42,949,160 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0373:Zfp715
|
UTSW |
7 |
42,948,760 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1167:Zfp715
|
UTSW |
7 |
42,947,861 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1943:Zfp715
|
UTSW |
7 |
42,949,054 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1987:Zfp715
|
UTSW |
7 |
42,948,073 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2073:Zfp715
|
UTSW |
7 |
42,960,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2116:Zfp715
|
UTSW |
7 |
42,947,370 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2403:Zfp715
|
UTSW |
7 |
42,948,692 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3707:Zfp715
|
UTSW |
7 |
42,960,553 (GRCm39) |
missense |
probably benign |
|
|
R3838:Zfp715
|
UTSW |
7 |
42,949,180 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4059:Zfp715
|
UTSW |
7 |
42,951,155 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4110:Zfp715
|
UTSW |
7 |
42,947,304 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4426:Zfp715
|
UTSW |
7 |
42,960,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4675:Zfp715
|
UTSW |
7 |
42,949,444 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4898:Zfp715
|
UTSW |
7 |
42,949,106 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5007:Zfp715
|
UTSW |
7 |
42,949,019 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5477:Zfp715
|
UTSW |
7 |
42,949,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5574:Zfp715
|
UTSW |
7 |
42,960,463 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5594:Zfp715
|
UTSW |
7 |
42,949,116 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5967:Zfp715
|
UTSW |
7 |
42,948,572 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6538:Zfp715
|
UTSW |
7 |
42,948,573 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7322:Zfp715
|
UTSW |
7 |
42,960,562 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7629:Zfp715
|
UTSW |
7 |
42,951,100 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7934:Zfp715
|
UTSW |
7 |
42,949,308 (GRCm39) |
nonsense |
probably null |
|
|
R7973:Zfp715
|
UTSW |
7 |
42,949,321 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8327:Zfp715
|
UTSW |
7 |
42,947,482 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8348:Zfp715
|
UTSW |
7 |
42,949,361 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8532:Zfp715
|
UTSW |
7 |
42,949,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8532:Zfp715
|
UTSW |
7 |
42,948,829 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8835:Zfp715
|
UTSW |
7 |
42,948,430 (GRCm39) |
missense |
|
|
|
R9150:Zfp715
|
UTSW |
7 |
42,948,713 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9328:Zfp715
|
UTSW |
7 |
42,947,328 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9332:Zfp715
|
UTSW |
7 |
42,948,847 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9619:Zfp715
|
UTSW |
7 |
42,949,104 (GRCm39) |
nonsense |
probably null |
|
|
R9649:Zfp715
|
UTSW |
7 |
42,950,653 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2011-07-12 |
Incidental Mutation