Incidental Mutation 'R2403:Zfp715'
| ID |
248817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp715
|
| Ensembl Gene |
ENSMUSG00000012640 |
| Gene Name |
zinc finger protein 715 |
| Synonyms |
2610041B18Rik, mszf15 |
| MMRRC Submission |
040369-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R2403 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
42945946-42962724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42948692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 423
(R423C)
|
| 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: R423C
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040282
Gene: ENSMUSG00000012640
AA Change: R423C
| 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: R423C
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103620
Gene: ENSMUSG00000012640
AA Change: R423C
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,964,592 (GRCm39) |
E925G |
probably damaging |
Het |
| Abca9 |
T |
G |
11: 110,006,280 (GRCm39) |
Q1275P |
probably benign |
Het |
| Adgrl1 |
T |
A |
8: 84,657,870 (GRCm39) |
M492K |
probably benign |
Het |
| Ankrd50 |
T |
A |
3: 38,537,234 (GRCm39) |
K3* |
probably null |
Het |
| Arl5b |
T |
C |
2: 15,079,848 (GRCm39) |
S140P |
probably damaging |
Het |
| Armc1 |
T |
C |
3: 19,211,840 (GRCm39) |
|
probably benign |
Het |
| Ascc1 |
T |
C |
10: 59,840,663 (GRCm39) |
I8T |
probably benign |
Het |
| Bche |
A |
G |
3: 73,608,805 (GRCm39) |
V207A |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,627,259 (GRCm39) |
L1080P |
probably benign |
Het |
| Ceacam3 |
C |
A |
7: 16,895,779 (GRCm39) |
A583D |
probably damaging |
Het |
| Cep290 |
C |
T |
10: 100,373,299 (GRCm39) |
A1193V |
probably benign |
Het |
| Clcn1 |
T |
C |
6: 42,290,046 (GRCm39) |
I827T |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,175,641 (GRCm39) |
D69G |
possibly damaging |
Het |
| Cts3 |
A |
G |
13: 61,712,806 (GRCm39) |
W305R |
probably damaging |
Het |
| Dmwd |
T |
C |
7: 18,815,084 (GRCm39) |
I578T |
possibly damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,949,883 (GRCm39) |
V559M |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,016,549 (GRCm39) |
V70A |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,752,434 (GRCm39) |
V993A |
probably benign |
Het |
| Etl4 |
T |
A |
2: 20,812,117 (GRCm39) |
L1768* |
probably null |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fat3 |
T |
G |
9: 15,881,167 (GRCm39) |
D3235A |
probably damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,877,823 (GRCm39) |
F162I |
probably damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,852,897 (GRCm39) |
W200R |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,811,064 (GRCm39) |
M2461T |
possibly damaging |
Het |
| Fut1 |
A |
G |
7: 45,268,643 (GRCm39) |
Y144C |
probably benign |
Het |
| Gprin3 |
G |
A |
6: 59,331,134 (GRCm39) |
A391V |
probably benign |
Het |
| H2-Q4 |
A |
G |
17: 35,598,973 (GRCm39) |
E81G |
probably damaging |
Het |
| Hacd3 |
A |
G |
9: 64,908,311 (GRCm39) |
S162P |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,114,150 (GRCm39) |
H918Q |
probably benign |
Het |
| Lrp5 |
C |
A |
19: 3,647,430 (GRCm39) |
D1271Y |
probably damaging |
Het |
| Lsm8 |
C |
T |
6: 18,849,643 (GRCm39) |
T17I |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,958,145 (GRCm39) |
D141V |
probably damaging |
Het |
| Nckap5 |
G |
A |
1: 125,955,146 (GRCm39) |
H405Y |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or12k8 |
T |
C |
2: 36,974,986 (GRCm39) |
Y258C |
probably benign |
Het |
| Ostf1 |
T |
C |
19: 18,562,026 (GRCm39) |
K190R |
probably benign |
Het |
| Pnldc1 |
A |
T |
17: 13,118,777 (GRCm39) |
V197E |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,016,270 (GRCm39) |
S531P |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,516,973 (GRCm39) |
E3318K |
probably damaging |
Het |
| Scamp2 |
T |
C |
9: 57,484,995 (GRCm39) |
V67A |
possibly damaging |
Het |
| Serpina3g |
C |
A |
12: 104,207,421 (GRCm39) |
L195M |
probably damaging |
Het |
| Siglec1 |
G |
T |
2: 130,916,395 (GRCm39) |
T1185N |
possibly damaging |
Het |
| Sycp2 |
G |
A |
2: 178,045,528 (GRCm39) |
Q31* |
probably null |
Het |
| Tmprss15 |
T |
G |
16: 78,854,578 (GRCm39) |
T277P |
probably damaging |
Het |
| Trim34b |
C |
T |
7: 103,978,876 (GRCm39) |
S41L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,557,705 (GRCm39) |
T21507A |
possibly damaging |
Het |
| Umad1 |
T |
C |
6: 8,427,161 (GRCm39) |
V138A |
possibly damaging |
Het |
| Zfp523 |
A |
G |
17: 28,414,183 (GRCm39) |
I72M |
probably damaging |
Het |
| Zfp655 |
C |
T |
5: 145,181,356 (GRCm39) |
R405C |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGTTTTACTGAATGACTTCCC -3'
(R):5'- CATCCATTCCAGCTGAAGGTG -3'
Sequencing Primer
(F):5'- GAATGACTTCCCACATTCACGG -3'
(R):5'- GTTCATACTGGAGGAGACCCTTAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation