Incidental Mutation 'R4172:Zfp445'
ID |
318183 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp445
|
Ensembl Gene |
ENSMUSG00000047036 |
Gene Name |
zinc finger protein 445 |
Synonyms |
ZNF168 |
MMRRC Submission |
044391-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.656)
|
Stock # |
R4172 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
122673594-122695071 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 122681002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 980
(M980L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056467]
[ENSMUST00000213971]
[ENSMUST00000214626]
[ENSMUST00000216063]
|
AlphaFold |
Q8R2V3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056467
AA Change: M980L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000055738 Gene: ENSMUSG00000047036 AA Change: M980L
Domain | Start | End | E-Value | Type |
SCAN
|
48 |
160 |
1.07e-59 |
SMART |
KRAB
|
219 |
278 |
6.74e-30 |
SMART |
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
ZnF_C2H2
|
470 |
492 |
2.09e-3 |
SMART |
ZnF_C2H2
|
498 |
520 |
3.16e-3 |
SMART |
ZnF_C2H2
|
553 |
575 |
1.41e0 |
SMART |
ZnF_C2H2
|
581 |
603 |
1.04e-3 |
SMART |
ZnF_C2H2
|
634 |
656 |
1.6e-4 |
SMART |
ZnF_C2H2
|
662 |
686 |
6.78e-3 |
SMART |
ZnF_C2H2
|
718 |
740 |
1.67e-2 |
SMART |
ZnF_C2H2
|
746 |
768 |
1.2e-3 |
SMART |
ZnF_C2H2
|
796 |
818 |
2.02e-1 |
SMART |
ZnF_C2H2
|
824 |
846 |
2.95e-3 |
SMART |
ZnF_C2H2
|
933 |
955 |
2.49e-1 |
SMART |
ZnF_C2H2
|
961 |
983 |
4.61e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213573
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213971
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214626
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216063
AA Change: M980L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216243
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
Cdc5l |
A |
G |
17: 45,730,698 (GRCm39) |
I196T |
probably damaging |
Het |
Dnah7b |
G |
T |
1: 46,266,106 (GRCm39) |
R2225L |
probably damaging |
Het |
Gfra2 |
C |
A |
14: 71,133,521 (GRCm39) |
T117K |
possibly damaging |
Het |
Gle1 |
T |
C |
2: 29,828,538 (GRCm39) |
I120T |
probably benign |
Het |
Guf1 |
T |
A |
5: 69,715,572 (GRCm39) |
N52K |
possibly damaging |
Het |
Helq |
T |
C |
5: 100,919,713 (GRCm39) |
K813E |
probably benign |
Het |
Ighv7-4 |
A |
T |
12: 114,186,635 (GRCm39) |
F46I |
probably damaging |
Het |
Il6st |
G |
A |
13: 112,631,861 (GRCm39) |
D467N |
probably benign |
Het |
Jak1 |
C |
A |
4: 101,016,329 (GRCm39) |
V812L |
probably benign |
Het |
Kank4 |
G |
T |
4: 98,667,358 (GRCm39) |
T363K |
probably damaging |
Het |
Lcat |
C |
A |
8: 106,669,059 (GRCm39) |
W72L |
possibly damaging |
Het |
Map2 |
T |
C |
1: 66,452,759 (GRCm39) |
S392P |
possibly damaging |
Het |
Mtmr2 |
T |
C |
9: 13,711,358 (GRCm39) |
F456L |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,183,247 (GRCm39) |
R709W |
probably damaging |
Het |
Nop14 |
T |
C |
5: 34,807,951 (GRCm39) |
N337S |
probably damaging |
Het |
Npbwr1 |
A |
G |
1: 5,987,155 (GRCm39) |
Y120H |
probably damaging |
Het |
Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
Oxsm |
A |
T |
14: 16,242,079 (GRCm38) |
V230E |
probably damaging |
Het |
Paox |
G |
A |
7: 139,713,941 (GRCm39) |
G234R |
probably damaging |
Het |
Polq |
C |
T |
16: 36,881,120 (GRCm39) |
H1095Y |
probably benign |
Het |
Rad51c |
T |
C |
11: 87,293,572 (GRCm39) |
T77A |
probably damaging |
Het |
Ryr3 |
C |
A |
2: 112,624,815 (GRCm39) |
V2202F |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Snx27 |
T |
C |
3: 94,410,794 (GRCm39) |
H452R |
probably benign |
Het |
Son |
C |
T |
16: 91,456,250 (GRCm39) |
H1666Y |
probably damaging |
Het |
Spata25 |
C |
A |
2: 164,669,408 (GRCm39) |
W201L |
possibly damaging |
Het |
Spint2 |
A |
G |
7: 28,963,097 (GRCm39) |
V67A |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,691,268 (GRCm39) |
Y322C |
probably benign |
Het |
Synm |
T |
C |
7: 67,385,109 (GRCm39) |
Y409C |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tpm1 |
T |
C |
9: 66,930,649 (GRCm39) |
N283D |
probably benign |
Het |
Trpv6 |
T |
C |
6: 41,602,432 (GRCm39) |
D318G |
probably damaging |
Het |
Ube2j2 |
A |
G |
4: 156,033,543 (GRCm39) |
D39G |
probably damaging |
Het |
Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
Vwa5a |
T |
C |
9: 38,635,166 (GRCm39) |
F224L |
probably damaging |
Het |
|
Other mutations in Zfp445 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02427:Zfp445
|
APN |
9 |
122,681,295 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02608:Zfp445
|
APN |
9 |
122,690,940 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03216:Zfp445
|
APN |
9 |
122,681,043 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03218:Zfp445
|
APN |
9 |
122,686,594 (GRCm39) |
missense |
probably benign |
0.00 |
Nonpareil
|
UTSW |
9 |
122,681,410 (GRCm39) |
missense |
probably benign |
0.02 |
R0080:Zfp445
|
UTSW |
9 |
122,681,421 (GRCm39) |
missense |
probably damaging |
0.98 |
R0082:Zfp445
|
UTSW |
9 |
122,681,421 (GRCm39) |
missense |
probably damaging |
0.98 |
R0453:Zfp445
|
UTSW |
9 |
122,682,578 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0610:Zfp445
|
UTSW |
9 |
122,682,046 (GRCm39) |
missense |
probably benign |
0.44 |
R0730:Zfp445
|
UTSW |
9 |
122,690,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R1622:Zfp445
|
UTSW |
9 |
122,681,614 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1719:Zfp445
|
UTSW |
9 |
122,681,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R2108:Zfp445
|
UTSW |
9 |
122,681,305 (GRCm39) |
missense |
probably benign |
0.13 |
R2117:Zfp445
|
UTSW |
9 |
122,682,502 (GRCm39) |
nonsense |
probably null |
|
R2143:Zfp445
|
UTSW |
9 |
122,682,547 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2162:Zfp445
|
UTSW |
9 |
122,681,541 (GRCm39) |
missense |
probably damaging |
0.99 |
R3620:Zfp445
|
UTSW |
9 |
122,681,833 (GRCm39) |
missense |
probably benign |
|
R3621:Zfp445
|
UTSW |
9 |
122,681,833 (GRCm39) |
missense |
probably benign |
|
R3745:Zfp445
|
UTSW |
9 |
122,683,791 (GRCm39) |
missense |
probably benign |
0.00 |
R3829:Zfp445
|
UTSW |
9 |
122,682,142 (GRCm39) |
missense |
probably benign |
|
R3831:Zfp445
|
UTSW |
9 |
122,681,541 (GRCm39) |
missense |
probably damaging |
0.99 |
R4180:Zfp445
|
UTSW |
9 |
122,681,589 (GRCm39) |
missense |
probably benign |
0.00 |
R4747:Zfp445
|
UTSW |
9 |
122,686,215 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4923:Zfp445
|
UTSW |
9 |
122,681,358 (GRCm39) |
missense |
probably benign |
|
R5010:Zfp445
|
UTSW |
9 |
122,681,410 (GRCm39) |
missense |
probably benign |
0.02 |
R5578:Zfp445
|
UTSW |
9 |
122,682,402 (GRCm39) |
missense |
probably benign |
0.00 |
R5759:Zfp445
|
UTSW |
9 |
122,682,211 (GRCm39) |
missense |
probably benign |
0.00 |
R5864:Zfp445
|
UTSW |
9 |
122,682,552 (GRCm39) |
missense |
probably benign |
0.00 |
R5865:Zfp445
|
UTSW |
9 |
122,682,552 (GRCm39) |
missense |
probably benign |
0.00 |
R5987:Zfp445
|
UTSW |
9 |
122,682,951 (GRCm39) |
missense |
probably benign |
|
R6481:Zfp445
|
UTSW |
9 |
122,686,631 (GRCm39) |
missense |
probably benign |
0.00 |
R6738:Zfp445
|
UTSW |
9 |
122,691,123 (GRCm39) |
missense |
probably damaging |
0.96 |
R6917:Zfp445
|
UTSW |
9 |
122,691,359 (GRCm39) |
splice site |
probably null |
|
R7137:Zfp445
|
UTSW |
9 |
122,683,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R7224:Zfp445
|
UTSW |
9 |
122,681,208 (GRCm39) |
missense |
probably benign |
0.28 |
R8056:Zfp445
|
UTSW |
9 |
122,681,032 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8263:Zfp445
|
UTSW |
9 |
122,681,878 (GRCm39) |
missense |
probably benign |
0.00 |
R8313:Zfp445
|
UTSW |
9 |
122,682,695 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8929:Zfp445
|
UTSW |
9 |
122,682,732 (GRCm39) |
missense |
probably benign |
0.11 |
R9250:Zfp445
|
UTSW |
9 |
122,681,092 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9361:Zfp445
|
UTSW |
9 |
122,690,887 (GRCm39) |
missense |
probably damaging |
0.99 |
R9396:Zfp445
|
UTSW |
9 |
122,681,581 (GRCm39) |
missense |
probably benign |
0.00 |
R9549:Zfp445
|
UTSW |
9 |
122,685,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R9618:Zfp445
|
UTSW |
9 |
122,685,788 (GRCm39) |
missense |
probably damaging |
0.99 |
R9730:Zfp445
|
UTSW |
9 |
122,681,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAAAAGACCCCAGAGAACTTTCTG -3'
(R):5'- TGTGCCCACCAAGAAGAAAG -3'
Sequencing Primer
(F):5'- GAAGACTGAGAAATTCCTGAGTTTTG -3'
(R):5'- GAAAGCCTGCCACAAATGCAG -3'
|
Posted On |
2015-06-10 |