Incidental Mutation 'R5967:Zfp715'
| ID |
470664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp715
|
| Ensembl Gene |
ENSMUSG00000012640 |
| Gene Name |
zinc finger protein 715 |
| Synonyms |
2610041B18Rik, mszf15 |
| MMRRC Submission |
043248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
42945946-42962724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42948572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 463
(T463A)
|
| 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 |
probably benign
Transcript: ENSMUST00000048015
AA Change: T463A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000040282
Gene: ENSMUSG00000012640
AA Change: T463A
| 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: ENSMUST00000107986
AA Change: T463A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000103620
Gene: ENSMUSG00000012640
AA Change: T463A
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
A |
3: 116,587,357 (GRCm39) |
D66V |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,259,560 (GRCm39) |
P792S |
probably damaging |
Het |
| Angptl2 |
A |
G |
2: 33,118,718 (GRCm39) |
N164S |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,967,434 (GRCm39) |
F4112L |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,650,530 (GRCm39) |
E446G |
possibly damaging |
Het |
| Ceacam1 |
C |
T |
7: 25,174,167 (GRCm39) |
V163I |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 95,978,534 (GRCm39) |
K1068R |
probably damaging |
Het |
| Gna11 |
A |
G |
10: 81,366,643 (GRCm39) |
Y356H |
probably benign |
Het |
| Gnl2 |
A |
G |
4: 124,934,823 (GRCm39) |
M160V |
probably benign |
Het |
| Gpsm1 |
A |
G |
2: 26,230,546 (GRCm39) |
|
probably null |
Het |
| Grep1 |
C |
A |
17: 23,931,332 (GRCm39) |
G192W |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Kif20a |
G |
T |
18: 34,763,580 (GRCm39) |
R609L |
probably benign |
Het |
| Meis2 |
G |
A |
2: 115,694,790 (GRCm39) |
T444I |
probably benign |
Het |
| Muc17 |
T |
A |
5: 137,175,485 (GRCm39) |
I62L |
probably benign |
Het |
| Myorg |
G |
A |
4: 41,497,830 (GRCm39) |
A600V |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,146,048 (GRCm39) |
D526N |
unknown |
Het |
| Nodal |
G |
T |
10: 61,259,446 (GRCm39) |
E294D |
probably damaging |
Het |
| Nup214 |
T |
C |
2: 31,869,790 (GRCm39) |
V161A |
possibly damaging |
Het |
| Or10a48 |
C |
T |
7: 108,424,921 (GRCm39) |
G95D |
probably benign |
Het |
| Or5k1b |
G |
T |
16: 58,580,725 (GRCm39) |
D271E |
probably damaging |
Het |
| Or5m11b |
G |
A |
2: 85,806,535 (GRCm39) |
R316H |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,669 (GRCm39) |
T990S |
unknown |
Het |
| Piwil2 |
A |
T |
14: 70,628,013 (GRCm39) |
M752K |
probably benign |
Het |
| Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,411,333 (GRCm39) |
M805K |
probably damaging |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Ralbp1 |
A |
G |
17: 66,171,274 (GRCm39) |
V233A |
probably benign |
Het |
| Scin |
C |
T |
12: 40,127,537 (GRCm39) |
E418K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,506,057 (GRCm39) |
I1611F |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,142,506 (GRCm39) |
H42L |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,537,375 (GRCm39) |
V4259D |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,403,039 (GRCm39) |
Y528F |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,675,168 (GRCm39) |
E107G |
probably damaging |
Het |
|
| Other mutations in Zfp715 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Zfp715
|
APN |
7 |
42,949,173 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTAAGGCTTCTCCCCAG -3'
(R):5'- AAGCCTTCAGTGATGGGTCAG -3'
Sequencing Primer
(F):5'- AGGGTGAAGCTTCTCATGCC -3'
(R):5'- CAGTGATGGGTCAGCTTTCTATGAAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation