Incidental Mutation 'R5010:Zfp445'
| ID |
390446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp445
|
| Ensembl Gene |
ENSMUSG00000047036 |
| Gene Name |
zinc finger protein 445 |
| Synonyms |
ZNF168 |
| MMRRC Submission |
042601-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.656)
|
| Stock # |
R5010 (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 122681410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 844
(R844G)
|
| 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: R844G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000055738
Gene: ENSMUSG00000047036
AA Change: R844G
| 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: R844G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216243
|
| Meta Mutation Damage Score |
0.4020 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
C |
T |
11: 58,313,630 (GRCm39) |
A86V |
possibly damaging |
Het |
| 9430097D07Rik |
A |
G |
2: 32,464,440 (GRCm39) |
|
probably benign |
Het |
| Actr5 |
T |
A |
2: 158,477,283 (GRCm39) |
D411E |
probably benign |
Het |
| Ang5 |
A |
G |
14: 44,200,302 (GRCm39) |
D122G |
probably benign |
Het |
| Atg9a |
A |
T |
1: 75,162,704 (GRCm39) |
|
probably null |
Het |
| Cracd |
G |
C |
5: 76,805,681 (GRCm39) |
|
probably benign |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Ddx11 |
G |
A |
17: 66,454,717 (GRCm39) |
V642M |
possibly damaging |
Het |
| Dis3l2 |
G |
A |
1: 86,688,043 (GRCm39) |
V100I |
probably benign |
Het |
| Echdc2 |
T |
C |
4: 108,029,328 (GRCm39) |
V111A |
probably benign |
Het |
| Egr1 |
A |
G |
18: 34,996,711 (GRCm39) |
T498A |
probably benign |
Het |
| Exosc3 |
T |
C |
4: 45,317,702 (GRCm39) |
K200R |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,636,644 (GRCm39) |
D229G |
probably benign |
Het |
| Ext1 |
T |
A |
15: 52,955,808 (GRCm39) |
I430F |
probably damaging |
Het |
| Fbxw22 |
T |
C |
9: 109,232,492 (GRCm39) |
N31S |
probably benign |
Het |
| Gja8 |
T |
C |
3: 96,827,165 (GRCm39) |
T166A |
probably benign |
Het |
| Gm21814 |
T |
A |
6: 149,485,116 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21915 |
T |
A |
9: 40,581,944 (GRCm39) |
H12Q |
probably benign |
Het |
| Hgsnat |
G |
A |
8: 26,437,988 (GRCm39) |
R527* |
probably null |
Het |
| Iqgap2 |
A |
G |
13: 95,810,251 (GRCm39) |
F731S |
probably benign |
Het |
| Jchain |
T |
C |
5: 88,670,364 (GRCm39) |
H85R |
probably damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,383,186 (GRCm39) |
C171R |
probably benign |
Het |
| Kcnk3 |
C |
A |
5: 30,780,149 (GRCm39) |
R400S |
possibly damaging |
Het |
| Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
| Lrrfip2 |
T |
C |
9: 111,053,040 (GRCm39) |
I375T |
possibly damaging |
Het |
| Mccc1 |
T |
C |
3: 36,033,166 (GRCm39) |
N326S |
probably benign |
Het |
| Med13l |
T |
C |
5: 118,731,615 (GRCm39) |
V97A |
possibly damaging |
Het |
| Mertk |
C |
A |
2: 128,625,920 (GRCm39) |
T685K |
probably benign |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,133,310 (GRCm39) |
V401M |
probably damaging |
Het |
| Nme5 |
A |
C |
18: 34,711,738 (GRCm39) |
M1R |
probably null |
Het |
| Nop2 |
T |
C |
6: 125,110,726 (GRCm39) |
S68P |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,366,126 (GRCm39) |
D809E |
possibly damaging |
Het |
| Or14c39 |
T |
C |
7: 86,343,793 (GRCm39) |
I43T |
possibly damaging |
Het |
| Ppat |
C |
T |
5: 77,076,525 (GRCm39) |
|
probably benign |
Het |
| Prss23 |
T |
A |
7: 89,159,422 (GRCm39) |
M216L |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,083,279 (GRCm39) |
V171D |
probably damaging |
Het |
| Psg28 |
A |
G |
7: 18,161,816 (GRCm39) |
V229A |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,618,176 (GRCm39) |
N879D |
possibly damaging |
Het |
| Rpap1 |
T |
C |
2: 119,600,522 (GRCm39) |
N879S |
probably benign |
Het |
| Rusc2 |
T |
C |
4: 43,415,926 (GRCm39) |
S411P |
probably damaging |
Het |
| Rxfp2 |
T |
A |
5: 149,990,825 (GRCm39) |
W519R |
probably damaging |
Het |
| Scpep1 |
T |
A |
11: 88,832,175 (GRCm39) |
Q185L |
probably benign |
Het |
| Serpinb11 |
A |
G |
1: 107,307,379 (GRCm39) |
N270S |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,855,427 (GRCm39) |
M367K |
probably benign |
Het |
| Skint10 |
T |
G |
4: 112,584,869 (GRCm39) |
I213L |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,403,734 (GRCm39) |
T1163A |
unknown |
Het |
| Slamf9 |
A |
T |
1: 172,303,780 (GRCm39) |
I42L |
possibly damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,680,330 (GRCm39) |
|
probably benign |
Het |
| Smad6 |
T |
A |
9: 63,861,182 (GRCm39) |
Q371L |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,555,469 (GRCm39) |
V26E |
probably damaging |
Het |
| Spata31e5 |
A |
G |
1: 28,816,943 (GRCm39) |
I363T |
possibly damaging |
Het |
| Taf4b |
A |
G |
18: 14,955,229 (GRCm39) |
N594S |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,670,918 (GRCm39) |
S172P |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,438 (GRCm39) |
Y156* |
probably null |
Het |
| Tbc1d20 |
G |
A |
2: 152,135,856 (GRCm39) |
|
probably benign |
Het |
| Timm50 |
A |
T |
7: 28,006,284 (GRCm39) |
D272E |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,730,855 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,823,661 (GRCm39) |
F1362I |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,543,220 (GRCm39) |
S154P |
probably benign |
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 |
|
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 |
|
|
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'- ACGGAGCTTTCCACTTAGTTCC -3'
(R):5'- CACAAGCGGTATAAGTATCGTG -3'
Sequencing Primer
(F):5'- GCCATATTCAGACTGCAG -3'
(R):5'- TCGTGAAAGTAAAGAGACTTCAAATC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation