Incidental Mutation 'R1305:Zfp945'
| ID |
157789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp945
|
| Ensembl Gene |
ENSMUSG00000059142 |
| Gene Name |
zinc finger protein 945 |
| Synonyms |
C730040L01Rik, A630033E08Rik |
| MMRRC Submission |
039371-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1305 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23065671-23086108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23071360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 180
(K180E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088696]
[ENSMUST00000150092]
[ENSMUST00000160457]
|
| AlphaFold |
F6WAU7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088696
AA Change: K180E
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086074
Gene: ENSMUSG00000059142
AA Change: K180E
| 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 |
possibly damaging
Transcript: ENSMUST00000160457
AA Change: K201E
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124123
Gene: ENSMUSG00000059142
AA Change: K201E
| 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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2 |
G |
A |
5: 121,887,247 (GRCm39) |
V306I |
probably damaging |
Het |
| Enc1 |
T |
C |
13: 97,383,208 (GRCm39) |
Y573H |
possibly damaging |
Het |
| Gm9869 |
T |
C |
9: 60,729,168 (GRCm39) |
|
probably benign |
Het |
| Ifna2 |
T |
C |
4: 88,601,614 (GRCm39) |
T135A |
probably benign |
Het |
| Ifngr1 |
C |
T |
10: 19,482,001 (GRCm39) |
T197M |
possibly damaging |
Het |
| Kcnj4 |
A |
T |
15: 79,369,020 (GRCm39) |
V320E |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,464,554 (GRCm39) |
I1648N |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,694,890 (GRCm39) |
M435L |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,581,880 (GRCm39) |
|
probably null |
Het |
| Mex3c |
T |
A |
18: 73,723,306 (GRCm39) |
F466L |
probably benign |
Het |
| Msl3l2 |
T |
C |
10: 55,991,631 (GRCm39) |
C119R |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,972,001 (GRCm39) |
E72G |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,818,930 (GRCm39) |
S475P |
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,881,077 (GRCm39) |
N18I |
possibly damaging |
Het |
| Nwd2 |
G |
T |
5: 63,902,540 (GRCm39) |
W86L |
probably damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,646 (GRCm39) |
L212* |
probably null |
Het |
| Or7a37 |
T |
C |
10: 78,805,933 (GRCm39) |
I150T |
probably benign |
Het |
| Pard3 |
T |
A |
8: 128,032,891 (GRCm39) |
S162T |
possibly damaging |
Het |
| Ppm1a |
C |
A |
12: 72,830,494 (GRCm39) |
D6E |
probably damaging |
Het |
| Rcor3 |
C |
T |
1: 191,800,646 (GRCm39) |
V312I |
possibly damaging |
Het |
| Rgs20 |
T |
A |
1: 5,091,262 (GRCm39) |
|
probably null |
Het |
| Slc11a2 |
C |
A |
15: 100,307,963 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Vmn1r124 |
C |
A |
7: 20,994,188 (GRCm39) |
V119F |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,787,523 (GRCm39) |
T230A |
possibly damaging |
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 |
|
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 |
|
|
R4247:Zfp945
|
UTSW |
17 |
23,069,583 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- GCACGGTAATGGCATTCACGGTAG -3'
(R):5'- TGCCAGGGAACCATGCAAGTATAAG -3'
Sequencing Primer
(F):5'- GTTTTCTAAGACCTGAGCAGCAG -3'
(R):5'- CCATGCAAGTATAAGGACTGTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation