Incidental Mutation 'R4247:Zfp945'
| ID |
320483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp945
|
| Ensembl Gene |
ENSMUSG00000059142 |
| Gene Name |
zinc finger protein 945 |
| Synonyms |
C730040L01Rik, A630033E08Rik |
| MMRRC Submission |
041063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4247 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23065671-23086108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23069583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 793
(G793D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088696]
[ENSMUST00000150092]
[ENSMUST00000160457]
|
| AlphaFold |
F6WAU7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088696
AA Change: G772D
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000086074
Gene: ENSMUSG00000059142
AA Change: G772D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
68 |
9.12e-18 |
SMART |
|
ZnF_C2H2
|
210 |
232 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
238 |
260 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
266 |
288 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
490 |
512 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
518 |
540 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
546 |
568 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
574 |
596 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
602 |
624 |
9.31e1 |
SMART |
|
ZnF_C2H2
|
630 |
652 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
658 |
680 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
686 |
708 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
714 |
736 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
742 |
764 |
1.98e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000095615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150092
|
| SMART Domains |
Protein: ENSMUSP00000117978
Gene: ENSMUSG00000059142
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
34 |
89 |
9.12e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160457
AA Change: G793D
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124123
Gene: ENSMUSG00000059142
AA Change: G793D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
34 |
89 |
9.12e-18 |
SMART |
|
ZnF_C2H2
|
231 |
253 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
259 |
281 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
287 |
309 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
371 |
393 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
427 |
449 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
623 |
645 |
9.31e1 |
SMART |
|
ZnF_C2H2
|
651 |
673 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
679 |
701 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
707 |
729 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
735 |
757 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
763 |
785 |
1.98e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,195,626 (GRCm39) |
I305V |
probably benign |
Het |
| Aga |
T |
A |
8: 53,964,865 (GRCm39) |
L9Q |
possibly damaging |
Het |
| Akna |
C |
T |
4: 63,313,409 (GRCm39) |
G238D |
probably benign |
Het |
| Arhgap23 |
G |
A |
11: 97,354,525 (GRCm39) |
E813K |
probably damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,719,539 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
C |
T |
5: 67,824,917 (GRCm39) |
G820S |
probably damaging |
Het |
| Ccdc97 |
T |
G |
7: 25,415,459 (GRCm39) |
H68P |
possibly damaging |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
| Fubp1 |
G |
A |
3: 151,937,573 (GRCm39) |
A103T |
possibly damaging |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Gtf3c5 |
T |
C |
2: 28,461,196 (GRCm39) |
D306G |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,594,417 (GRCm39) |
N16I |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Kif27 |
A |
G |
13: 58,435,731 (GRCm39) |
V1354A |
probably damaging |
Het |
| Kif9 |
G |
T |
9: 110,325,027 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,176 (GRCm39) |
I193T |
possibly damaging |
Het |
| Or2bd2 |
A |
G |
7: 6,441,901 (GRCm39) |
|
probably benign |
Het |
| Or52b1 |
T |
C |
7: 104,979,355 (GRCm39) |
I15V |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Pramel52-ps |
A |
G |
5: 94,531,446 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,314,686 (GRCm39) |
D1802G |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,041 (GRCm39) |
M29K |
possibly damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,636,952 (GRCm39) |
V250M |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,149,994 (GRCm39) |
V239A |
possibly damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,988,171 (GRCm39) |
D512V |
probably damaging |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Tamalin |
G |
T |
15: 101,122,418 (GRCm39) |
R79L |
possibly damaging |
Het |
| Trp73 |
A |
G |
4: 154,149,089 (GRCm39) |
|
probably null |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Upp1 |
T |
C |
11: 9,084,815 (GRCm39) |
I178T |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,521,883 (GRCm39) |
L152Q |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,542 (GRCm39) |
S599P |
possibly damaging |
Het |
| Wrnip1 |
T |
C |
13: 32,990,866 (GRCm39) |
L375P |
probably damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,576,389 (GRCm39) |
A231S |
probably benign |
Het |
|
| Other mutations in Zfp945 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Zfp945
|
APN |
17 |
23,070,931 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01077:Zfp945
|
APN |
17 |
23,071,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02706:Zfp945
|
APN |
17 |
23,076,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03408:Zfp945
|
APN |
17 |
23,071,511 (GRCm39) |
nonsense |
probably null |
|
|
Small-scale
|
UTSW |
17 |
23,069,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Zfp945
|
UTSW |
17 |
23,084,226 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0718:Zfp945
|
UTSW |
17 |
23,070,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1305:Zfp945
|
UTSW |
17 |
23,071,360 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1801:Zfp945
|
UTSW |
17 |
23,070,736 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1837:Zfp945
|
UTSW |
17 |
23,070,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Zfp945
|
UTSW |
17 |
23,076,223 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4193:Zfp945
|
UTSW |
17 |
23,070,144 (GRCm39) |
unclassified |
probably benign |
|
|
R5026:Zfp945
|
UTSW |
17 |
23,069,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5918:Zfp945
|
UTSW |
17 |
23,069,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6076:Zfp945
|
UTSW |
17 |
23,070,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6664:Zfp945
|
UTSW |
17 |
23,071,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6997:Zfp945
|
UTSW |
17 |
23,071,543 (GRCm39) |
nonsense |
probably null |
|
|
R7040:Zfp945
|
UTSW |
17 |
23,071,264 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7479:Zfp945
|
UTSW |
17 |
23,070,340 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7566:Zfp945
|
UTSW |
17 |
23,070,727 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7948:Zfp945
|
UTSW |
17 |
23,071,096 (GRCm39) |
missense |
unknown |
|
|
R8383:Zfp945
|
UTSW |
17 |
23,070,798 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9776:Zfp945
|
UTSW |
17 |
23,070,582 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9790:Zfp945
|
UTSW |
17 |
23,071,228 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9791:Zfp945
|
UTSW |
17 |
23,071,228 (GRCm39) |
missense |
probably benign |
0.33 |
|
X0063:Zfp945
|
UTSW |
17 |
23,071,202 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGGGATATTCTAAGAGGTGTGCC -3'
(R):5'- AATGTGGTAATTGCGACAGATC -3'
Sequencing Primer
(F):5'- CTAAGACAGCCTTTCTGGGTAAAAG -3'
(R):5'- GCGACAGATCTTTTACAAGTGGCTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation