Incidental Mutation 'R8532:Zfp715'
| ID |
659102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp715
|
| Ensembl Gene |
ENSMUSG00000012640 |
| Gene Name |
zinc finger protein 715 |
| Synonyms |
2610041B18Rik, mszf15 |
| MMRRC Submission |
068502-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R8532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
42945946-42962724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42949134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 275
(D275E)
|
| 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: D275E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040282
Gene: ENSMUSG00000012640
AA Change: D275E
| 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: D275E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103620
Gene: ENSMUSG00000012640
AA Change: D275E
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
A |
2: 69,090,035 (GRCm39) |
V950L |
possibly damaging |
Het |
| Acsl6 |
T |
A |
11: 54,218,001 (GRCm39) |
V238E |
probably damaging |
Het |
| Adam2 |
C |
A |
14: 66,293,970 (GRCm39) |
A286S |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,412,679 (GRCm39) |
I1215N |
probably damaging |
Het |
| Anxa2 |
T |
C |
9: 69,374,594 (GRCm39) |
Y24H |
probably benign |
Het |
| Brms1l |
T |
C |
12: 55,891,264 (GRCm39) |
L106P |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,341,510 (GRCm39) |
L1166Q |
probably damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,396,032 (GRCm39) |
L641P |
probably damaging |
Het |
| Cep78 |
T |
A |
19: 15,936,948 (GRCm39) |
D586V |
possibly damaging |
Het |
| Chek1 |
T |
C |
9: 36,630,988 (GRCm39) |
D142G |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,097,912 (GRCm39) |
|
probably benign |
Het |
| Eif2b5 |
T |
C |
16: 20,323,956 (GRCm39) |
V433A |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,070,302 (GRCm39) |
Y868* |
probably null |
Het |
| Fam149a |
T |
A |
8: 45,801,991 (GRCm39) |
T414S |
possibly damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gm3604 |
A |
T |
13: 62,516,769 (GRCm39) |
C530S |
possibly damaging |
Het |
| Gtf2e2 |
T |
C |
8: 34,248,633 (GRCm39) |
F140S |
probably damaging |
Het |
| Ighv1-63 |
T |
C |
12: 115,459,270 (GRCm39) |
D109G |
probably damaging |
Het |
| Igkv3-9 |
G |
C |
6: 70,565,706 (GRCm39) |
V102L |
possibly damaging |
Het |
| Kif12 |
G |
A |
4: 63,087,656 (GRCm39) |
Q276* |
probably null |
Het |
| Lrba |
C |
T |
3: 86,664,790 (GRCm39) |
R557C |
probably damaging |
Het |
| Matn2 |
C |
A |
15: 34,316,699 (GRCm39) |
Q14K |
probably benign |
Het |
| Mical2 |
C |
A |
7: 111,917,751 (GRCm39) |
F369L |
probably damaging |
Het |
| Or13a17 |
T |
C |
7: 140,271,712 (GRCm39) |
V298A |
probably damaging |
Het |
| Or52e8b |
T |
C |
7: 104,673,773 (GRCm39) |
Y138C |
probably damaging |
Het |
| Or9m2 |
A |
G |
2: 87,820,913 (GRCm39) |
T153A |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,125,125 (GRCm39) |
T350A |
probably benign |
Het |
| Rcbtb1 |
T |
A |
14: 59,447,973 (GRCm39) |
C72* |
probably null |
Het |
| Ros1 |
T |
G |
10: 51,974,852 (GRCm39) |
T1578P |
possibly damaging |
Het |
| Rps6kb2 |
A |
T |
19: 4,209,243 (GRCm39) |
I200N |
probably damaging |
Het |
| Slc17a4 |
C |
A |
13: 24,088,718 (GRCm39) |
W223L |
probably damaging |
Het |
| Slitrk5 |
A |
T |
14: 111,916,909 (GRCm39) |
M178L |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,891,027 (GRCm39) |
|
probably null |
Het |
| Syt10 |
C |
T |
15: 89,676,889 (GRCm39) |
E366K |
probably damaging |
Het |
| Tbc1d16 |
A |
G |
11: 119,045,993 (GRCm39) |
F484L |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,103,335 (GRCm39) |
W566R |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,655,065 (GRCm39) |
I551K |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 46,016,920 (GRCm39) |
T654A |
probably damaging |
Het |
| Timm44 |
A |
T |
8: 4,310,549 (GRCm39) |
I401N |
possibly damaging |
Het |
| Xcl1 |
T |
A |
1: 164,759,515 (GRCm39) |
T62S |
probably damaging |
Het |
| Zbtb11 |
A |
T |
16: 55,811,252 (GRCm39) |
H470L |
probably benign |
Het |
| Zfp57 |
A |
G |
17: 37,320,793 (GRCm39) |
T213A |
possibly 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 |
|
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 |
42,948,829 (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'- CTTCAGCTGGAATGGATGGC -3'
(R):5'- AAGAGGGTCTTCCACAATATCAC -3'
Sequencing Primer
(F):5'- TGGCTCAGTGAATCTGACAC -3'
(R):5'- GGGTCTTCCACAATATCACTCACTTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation