Incidental Mutation 'R3829:Zfp445'
| ID |
273899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp445
|
| Ensembl Gene |
ENSMUSG00000047036 |
| Gene Name |
zinc finger protein 445 |
| Synonyms |
ZNF168 |
| MMRRC Submission |
040776-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.656)
|
| Stock # |
R3829 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122673594-122695071 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122682142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 600
(M600V)
|
| 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: M600V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055738
Gene: ENSMUSG00000047036
AA Change: M600V
| 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: M600V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216243
|
| Meta Mutation Damage Score |
0.0978 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
T |
14: 54,821,966 (GRCm39) |
H466Q |
probably damaging |
Het |
| 4933411K16Rik |
A |
T |
19: 42,041,322 (GRCm39) |
H151L |
probably damaging |
Het |
| A330008L17Rik |
A |
G |
8: 100,148,389 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc5 |
C |
A |
16: 20,184,615 (GRCm39) |
V1015L |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,962,173 (GRCm39) |
K3929R |
probably damaging |
Het |
| C1qtnf2 |
A |
G |
11: 43,382,148 (GRCm39) |
D320G |
probably benign |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cbs |
T |
C |
17: 31,836,355 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
T |
C |
19: 6,367,675 (GRCm39) |
V1015A |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chil6 |
A |
T |
3: 106,313,274 (GRCm39) |
M25K |
probably benign |
Het |
| Cln5 |
A |
G |
14: 103,310,795 (GRCm39) |
D154G |
probably damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Cyct |
T |
C |
2: 76,184,512 (GRCm39) |
K80E |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,232 (GRCm39) |
V628A |
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
| Foxp2 |
C |
T |
6: 15,379,830 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,917,167 (GRCm39) |
F592Y |
probably damaging |
Het |
| Gm10259 |
T |
G |
3: 25,266,693 (GRCm39) |
|
noncoding transcript |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| Hap1 |
G |
T |
11: 100,246,847 (GRCm39) |
D19E |
probably damaging |
Het |
| Lpcat1 |
T |
C |
13: 73,637,212 (GRCm39) |
I114T |
possibly damaging |
Het |
| Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
| Mrpl50 |
T |
C |
4: 49,514,539 (GRCm39) |
E44G |
probably damaging |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,096,423 (GRCm39) |
I301V |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,820,452 (GRCm39) |
Y824H |
possibly damaging |
Het |
| Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
| Orc1 |
T |
A |
4: 108,462,828 (GRCm39) |
M635K |
probably damaging |
Het |
| Phip |
A |
G |
9: 82,753,698 (GRCm39) |
I1682T |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,794 (GRCm39) |
N223S |
probably benign |
Het |
| Ralb |
A |
T |
1: 119,399,447 (GRCm39) |
C204S |
probably benign |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
A |
G |
5: 135,886,068 (GRCm39) |
D336G |
probably damaging |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
| Tiam2 |
C |
G |
17: 3,557,976 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tmprss11b |
T |
C |
5: 86,809,449 (GRCm39) |
T348A |
probably damaging |
Het |
| Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
| Veph1 |
T |
A |
3: 66,066,748 (GRCm39) |
E413D |
possibly damaging |
Het |
| Vmn2r91 |
T |
G |
17: 18,325,759 (GRCm39) |
W126G |
probably damaging |
Het |
| Yrdc |
T |
A |
4: 124,745,554 (GRCm39) |
M1K |
probably null |
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 |
|
R3831:Zfp445
|
UTSW |
9 |
122,681,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4172:Zfp445
|
UTSW |
9 |
122,681,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CATGTTGCGTTCGCTTCATATG -3'
(R):5'- GCTTGGATGTCAGTCACCATTTG -3'
Sequencing Primer
(F):5'- ATAGGTAAATGTTTCTCCACACCC -3'
(R):5'- TCACCATTTGACAGACCGGGATG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation