Incidental Mutation 'R5477:Zfp715'
| ID |
501105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp715
|
| Ensembl Gene |
ENSMUSG00000012640 |
| Gene Name |
zinc finger protein 715 |
| Synonyms |
2610041B18Rik, mszf15 |
| MMRRC Submission |
043038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R5477 (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 42949378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 194
(Y194C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114600
(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: Y194C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040282
Gene: ENSMUSG00000012640
AA Change: Y194C
| 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: Y194C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103620
Gene: ENSMUSG00000012640
AA Change: Y194C
| 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 damaging
Transcript: ENSMUST00000139061
AA Change: Y194C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114600
Gene: ENSMUSG00000012640
AA Change: Y194C
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,588,984 (GRCm39) |
Y421H |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,251,298 (GRCm39) |
K2890R |
possibly damaging |
Het |
| Aff4 |
T |
A |
11: 53,299,299 (GRCm39) |
|
probably null |
Het |
| Brd10 |
A |
G |
19: 29,731,518 (GRCm39) |
V498A |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,650,911 (GRCm39) |
Q698L |
possibly damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,487,164 (GRCm39) |
M157V |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Gm10521 |
T |
A |
1: 171,724,067 (GRCm39) |
M126K |
unknown |
Het |
| Hs2st1 |
A |
G |
3: 144,262,709 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
T |
C |
14: 57,937,010 (GRCm39) |
D113G |
probably benign |
Het |
| Myo15a |
A |
C |
11: 60,368,503 (GRCm39) |
D421A |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,107 (GRCm39) |
I159F |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,393 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or6z6 |
T |
C |
7: 6,491,570 (GRCm39) |
Y94C |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,784,308 (GRCm39) |
D234V |
probably benign |
Het |
| Parl |
G |
T |
16: 20,098,824 (GRCm39) |
T311K |
possibly damaging |
Het |
| Pias3 |
G |
A |
3: 96,612,319 (GRCm39) |
R557H |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,656,511 (GRCm39) |
R396C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,642 (GRCm39) |
D390G |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,720,542 (GRCm39) |
P2702Q |
probably damaging |
Het |
| Senp6 |
C |
A |
9: 80,051,125 (GRCm39) |
A961D |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,294,146 (GRCm39) |
S503P |
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,394,193 (GRCm39) |
V21A |
possibly damaging |
Het |
| Sox7 |
A |
G |
14: 64,185,945 (GRCm39) |
Y327C |
probably damaging |
Het |
| Spdl1 |
A |
T |
11: 34,713,037 (GRCm39) |
F288I |
possibly damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,812,244 (GRCm39) |
M127K |
probably damaging |
Het |
| Sspo |
A |
C |
6: 48,475,327 (GRCm39) |
S5032R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,726,206 (GRCm39) |
W973R |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,174 (GRCm39) |
T130I |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,907,306 (GRCm39) |
K175* |
probably null |
Het |
| Trim30d |
T |
A |
7: 104,121,347 (GRCm39) |
Y316F |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,653 (GRCm39) |
P297L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGAACATCTCCATTCCCAG -3'
(R):5'- GTTTATAGCAATGTGGCAAGTGAAG -3'
Sequencing Primer
(F):5'- ACAGTTAGCATTACAGGAGCC -3'
(R):5'- GTGACAAGAGATGGTTCATGGTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation