Incidental Mutation 'R0080:Zfp445'
| ID |
44248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp445
|
| Ensembl Gene |
ENSMUSG00000047036 |
| Gene Name |
zinc finger protein 445 |
| Synonyms |
ZNF168 |
| MMRRC Submission |
038367-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R0080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122673594-122695071 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122681421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 840
(V840A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056467]
[ENSMUST00000213971]
[ENSMUST00000214626]
[ENSMUST00000216063]
|
| AlphaFold |
Q8R2V3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056467
AA Change: V840A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000055738
Gene: ENSMUSG00000047036
AA Change: V840A
| 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 damaging
Transcript: ENSMUST00000216063
AA Change: V840A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216243
|
| Meta Mutation Damage Score |
0.1839 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 93.1%
- 20x: 79.7%
|
| Validation Efficiency |
88% (175/200) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
10: 95,630,440 (GRCm39) |
|
probably null |
Het |
| Adam17 |
A |
C |
12: 21,379,049 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,099,497 (GRCm39) |
|
probably benign |
Het |
| Adgb |
T |
C |
10: 10,253,583 (GRCm39) |
|
probably benign |
Het |
| Antkmt |
T |
C |
17: 26,010,548 (GRCm39) |
I89V |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,896,205 (GRCm39) |
D118G |
probably null |
Het |
| Coro7 |
A |
T |
16: 4,448,328 (GRCm39) |
L714Q |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
| Dsg1b |
T |
G |
18: 20,530,424 (GRCm39) |
S360A |
probably damaging |
Het |
| Ednra |
T |
C |
8: 78,401,688 (GRCm39) |
I201V |
probably benign |
Het |
| Ggt6 |
A |
G |
11: 72,328,021 (GRCm39) |
T136A |
possibly damaging |
Het |
| Gnb5 |
A |
T |
9: 75,221,636 (GRCm39) |
E28V |
possibly damaging |
Het |
| Golgb1 |
T |
C |
16: 36,718,973 (GRCm39) |
L293P |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,242,295 (GRCm39) |
V183A |
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,606,723 (GRCm39) |
S474P |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,487,435 (GRCm39) |
S3477G |
probably benign |
Het |
| Hoatz |
T |
C |
9: 51,013,102 (GRCm39) |
T57A |
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,526,954 (GRCm39) |
D250G |
possibly damaging |
Het |
| Jsrp1 |
T |
G |
10: 80,646,349 (GRCm39) |
M70L |
probably benign |
Het |
| Kcmf1 |
G |
T |
6: 72,827,470 (GRCm39) |
|
probably null |
Het |
| Med23 |
T |
C |
10: 24,788,715 (GRCm39) |
V1368A |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nos1 |
G |
T |
5: 118,031,943 (GRCm39) |
C297F |
probably damaging |
Het |
| Oas1d |
G |
A |
5: 121,054,955 (GRCm39) |
A176T |
possibly damaging |
Het |
| Odf2l |
A |
T |
3: 144,830,084 (GRCm39) |
I19F |
possibly damaging |
Het |
| Or6c1b |
T |
C |
10: 129,273,140 (GRCm39) |
I153T |
possibly damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
| Pfkfb2 |
A |
T |
1: 130,642,279 (GRCm39) |
S5R |
probably benign |
Het |
| Pign |
G |
T |
1: 105,480,130 (GRCm39) |
A848E |
probably damaging |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,326 (GRCm39) |
V485E |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,583,361 (GRCm39) |
K4764N |
probably damaging |
Het |
| Scgb1b19 |
A |
G |
7: 32,987,067 (GRCm39) |
T73A |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,724,944 (GRCm39) |
E304G |
probably damaging |
Het |
| Snta1 |
A |
G |
2: 154,225,757 (GRCm39) |
V209A |
probably benign |
Het |
| Spdye4b |
A |
T |
5: 143,181,430 (GRCm39) |
D95V |
probably damaging |
Het |
| Srek1 |
T |
C |
13: 103,880,194 (GRCm39) |
T455A |
unknown |
Het |
| Tie1 |
T |
A |
4: 118,341,550 (GRCm39) |
E254V |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,452 (GRCm39) |
H123R |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Trim60 |
C |
T |
8: 65,453,251 (GRCm39) |
A333T |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,339 (GRCm39) |
R779S |
probably benign |
Het |
| Wdr91 |
T |
C |
6: 34,883,620 (GRCm39) |
R132G |
possibly 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 |
|
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 |
|
|
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'- AATGTTTTCCCGCAAGTGCTGC -3'
(R):5'- GGCAAAGCCTTTCACAATCGCTC -3'
Sequencing Primer
(F):5'- GGAACTCTCATCAGAAGGGTTATCAC -3'
(R):5'- gttcacactagagagaagccc -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation