Incidental Mutation 'R4059:Zfp715'
ID |
314381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp715
|
Ensembl Gene |
ENSMUSG00000012640 |
Gene Name |
zinc finger protein 715 |
Synonyms |
2610041B18Rik, mszf15 |
MMRRC Submission |
040970-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R4059 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
42945946-42962724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42951155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 48
(M48V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000012796
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012796]
[ENSMUST00000048015]
[ENSMUST00000107986]
[ENSMUST00000135130]
[ENSMUST00000139061]
[ENSMUST00000145622]
|
AlphaFold |
G3X9T1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000012796
AA Change: M48V
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000012796 Gene: ENSMUSG00000012640 AA Change: M48V
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: M48V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000040282 Gene: ENSMUSG00000012640 AA Change: M48V
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: M48V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000103620 Gene: ENSMUSG00000012640 AA Change: M48V
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
AA Change: M48V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000122812 Gene: ENSMUSG00000012640 AA Change: M48V
Domain | Start | End | E-Value | Type |
KRAB
|
48 |
88 |
5.49e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139061
AA Change: M48V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000114600 Gene: ENSMUSG00000012640 AA Change: M48V
Domain | Start | End | E-Value | Type |
KRAB
|
48 |
108 |
3.87e-30 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000145622
AA Change: D83G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151659
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
Agbl3 |
T |
C |
6: 34,823,834 (GRCm39) |
L833P |
probably damaging |
Het |
Amph |
T |
C |
13: 19,326,168 (GRCm39) |
S633P |
probably damaging |
Het |
Aspscr1 |
T |
C |
11: 120,577,505 (GRCm39) |
V60A |
probably benign |
Het |
Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
BC051019 |
C |
T |
7: 109,317,202 (GRCm39) |
W163* |
probably null |
Het |
Capza1 |
T |
C |
3: 104,732,427 (GRCm39) |
E245G |
probably damaging |
Het |
Cd81 |
G |
T |
7: 142,619,030 (GRCm39) |
C18F |
probably damaging |
Het |
Cfap45 |
G |
T |
1: 172,366,056 (GRCm39) |
R303L |
probably benign |
Het |
Commd9 |
T |
C |
2: 101,725,499 (GRCm39) |
V24A |
possibly damaging |
Het |
Dennd4a |
A |
G |
9: 64,819,174 (GRCm39) |
N1742D |
possibly damaging |
Het |
Dgat1 |
G |
T |
15: 76,388,371 (GRCm39) |
A182D |
possibly damaging |
Het |
Dlg4 |
T |
C |
11: 69,917,909 (GRCm39) |
L64P |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
Epb41l4b |
C |
T |
4: 57,024,337 (GRCm39) |
|
probably null |
Het |
Fam13c |
T |
C |
10: 70,390,338 (GRCm39) |
L533P |
probably damaging |
Het |
Fjx1 |
T |
C |
2: 102,281,066 (GRCm39) |
T290A |
possibly damaging |
Het |
Hid1 |
C |
T |
11: 115,247,565 (GRCm39) |
E278K |
probably damaging |
Het |
Hsd3b7 |
T |
C |
7: 127,400,717 (GRCm39) |
I57T |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
Itgae |
A |
G |
11: 73,002,960 (GRCm39) |
K175E |
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,792,781 (GRCm39) |
T14A |
probably damaging |
Het |
Krt23 |
T |
C |
11: 99,376,614 (GRCm39) |
T181A |
probably benign |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrrc36 |
A |
G |
8: 106,154,428 (GRCm39) |
E33G |
probably damaging |
Het |
Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
Mocos |
G |
A |
18: 24,812,447 (GRCm39) |
G447D |
probably damaging |
Het |
Ngef |
T |
A |
1: 87,413,953 (GRCm39) |
K399N |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,688,786 (GRCm39) |
L589P |
probably damaging |
Het |
Or4c104 |
C |
T |
2: 88,586,795 (GRCm39) |
V75I |
probably benign |
Het |
Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
Peg10 |
T |
G |
6: 4,756,427 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,414,156 (GRCm39) |
H2808Y |
probably benign |
Het |
Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
Ptcd2 |
A |
G |
13: 99,481,084 (GRCm39) |
C32R |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Rhoh |
G |
A |
5: 66,049,931 (GRCm39) |
S67N |
probably benign |
Het |
Rnd3 |
A |
G |
2: 51,038,760 (GRCm39) |
F43L |
probably damaging |
Het |
Runx1 |
A |
G |
16: 92,441,134 (GRCm39) |
V225A |
probably benign |
Het |
Runx1t1 |
T |
C |
4: 13,889,769 (GRCm39) |
V566A |
probably benign |
Het |
Sall2 |
A |
G |
14: 52,552,028 (GRCm39) |
I387T |
probably damaging |
Het |
Sec14l1 |
T |
A |
11: 117,040,024 (GRCm39) |
V384D |
possibly damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,919,355 (GRCm39) |
C491R |
probably damaging |
Het |
Slc22a27 |
T |
A |
19: 7,856,973 (GRCm39) |
|
probably benign |
Het |
Spire1 |
A |
G |
18: 67,678,783 (GRCm39) |
S53P |
probably damaging |
Het |
Tmco3 |
A |
G |
8: 13,370,848 (GRCm39) |
R671G |
probably benign |
Het |
Tmpo |
A |
G |
10: 90,998,123 (GRCm39) |
S555P |
probably benign |
Het |
Tnip1 |
A |
G |
11: 54,802,395 (GRCm39) |
S638P |
probably benign |
Het |
Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
Ucp3 |
T |
C |
7: 100,131,871 (GRCm39) |
Y241H |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,818,339 (GRCm39) |
I831V |
probably benign |
Het |
Zan |
T |
C |
5: 137,435,082 (GRCm39) |
I2104V |
unknown |
Het |
Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
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 |
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 |
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'- CAGAGATTACACTTCTGATACCTCACT -3'
(R):5'- TGGATGGAAGGATTGGTTCC -3'
Sequencing Primer
(F):5'- CCTCACTATGCTTTGGAAAGAGAAG -3'
(R):5'- GGATTGGTTCCTTTATAAGCATTCTC -3'
|
Posted On |
2015-04-30 |