Incidental Mutation 'R1622:Zfp445'
| ID |
174722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp445
|
| Ensembl Gene |
ENSMUSG00000047036 |
| Gene Name |
zinc finger protein 445 |
| Synonyms |
ZNF168 |
| MMRRC Submission |
039659-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R1622 (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 122681614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 776
(Y776H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056467]
[ENSMUST00000213971]
[ENSMUST00000214626]
[ENSMUST00000216063]
|
| AlphaFold |
Q8R2V3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056467
AA Change: Y776H
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000055738
Gene: ENSMUSG00000047036
AA Change: Y776H
| 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 |
possibly damaging
Transcript: ENSMUST00000216063
AA Change: Y776H
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216243
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart2 |
A |
G |
12: 55,612,696 (GRCm39) |
E207G |
probably benign |
Het |
| Arhgap19 |
T |
A |
19: 41,790,412 (GRCm39) |
S19C |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,491,272 (GRCm39) |
D374E |
possibly damaging |
Het |
| Atf2 |
A |
G |
2: 73,684,133 (GRCm39) |
|
probably null |
Het |
| Cadm1 |
A |
G |
9: 47,725,139 (GRCm39) |
N300S |
probably benign |
Het |
| Ccdc159 |
A |
T |
9: 21,840,666 (GRCm39) |
I78F |
possibly damaging |
Het |
| Cdh4 |
T |
C |
2: 179,530,885 (GRCm39) |
I589T |
possibly damaging |
Het |
| Clstn1 |
T |
C |
4: 149,713,864 (GRCm39) |
I182T |
probably damaging |
Het |
| Cnga3 |
T |
A |
1: 37,283,909 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
A |
4: 84,981,418 (GRCm39) |
S865R |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,683,516 (GRCm39) |
G1552E |
unknown |
Het |
| Col6a4 |
A |
C |
9: 105,874,334 (GRCm39) |
S2218A |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 101,878,910 (GRCm39) |
T527A |
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,241,439 (GRCm39) |
I569F |
possibly damaging |
Het |
| Gabra4 |
A |
G |
5: 71,729,329 (GRCm39) |
S484P |
possibly damaging |
Het |
| Glce |
T |
C |
9: 61,977,843 (GRCm39) |
I14V |
possibly damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,265 (GRCm39) |
Q78L |
probably damaging |
Het |
| Gpn1 |
A |
G |
5: 31,660,748 (GRCm39) |
T180A |
possibly damaging |
Het |
| Gpr6 |
A |
T |
10: 40,947,288 (GRCm39) |
I98N |
probably damaging |
Het |
| Hcrtr2 |
T |
C |
9: 76,230,722 (GRCm39) |
N22S |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 107,041,389 (GRCm39) |
V665I |
possibly damaging |
Het |
| Il4ra |
T |
A |
7: 125,169,225 (GRCm39) |
I159N |
possibly damaging |
Het |
| Irf8 |
G |
C |
8: 121,466,561 (GRCm39) |
C2S |
possibly damaging |
Het |
| Itih2 |
A |
T |
2: 10,106,890 (GRCm39) |
N701K |
probably benign |
Het |
| Lrrc4b |
GAGAAG |
GAG |
7: 44,111,654 (GRCm39) |
|
probably benign |
Het |
| Mmp10 |
T |
A |
9: 7,504,996 (GRCm39) |
Y263* |
probably null |
Het |
| Morc3 |
T |
A |
16: 93,671,694 (GRCm39) |
M835K |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,481,462 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
A |
G |
4: 46,171,963 (GRCm39) |
H777R |
possibly damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,710,182 (GRCm39) |
M514T |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,439,302 (GRCm39) |
I293N |
probably damaging |
Het |
| Pank2 |
A |
T |
2: 131,115,889 (GRCm39) |
E102D |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,754,505 (GRCm39) |
D175G |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,123,311 (GRCm39) |
D953G |
probably benign |
Het |
| Pibf1 |
G |
A |
14: 99,423,917 (GRCm39) |
V497I |
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,800,614 (GRCm39) |
M3085I |
probably benign |
Het |
| Prss58 |
A |
T |
6: 40,874,248 (GRCm39) |
C143S |
possibly damaging |
Het |
| Rassf8 |
A |
G |
6: 145,765,829 (GRCm39) |
|
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spag7 |
T |
A |
11: 70,555,688 (GRCm39) |
D73V |
probably damaging |
Het |
| Sult3a1 |
A |
T |
10: 33,746,246 (GRCm39) |
M189L |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,069 (GRCm39) |
D95G |
probably damaging |
Het |
| Tbc1d8 |
A |
C |
1: 39,419,317 (GRCm39) |
S766A |
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,710,796 (GRCm39) |
M39L |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,155,955 (GRCm39) |
N797S |
possibly damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,545 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
T |
C |
15: 38,009,357 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,756,363 (GRCm39) |
N690S |
probably benign |
Het |
| Zfp52 |
G |
A |
17: 21,781,833 (GRCm39) |
M560I |
probably benign |
Het |
| Zfp608 |
A |
G |
18: 55,121,366 (GRCm39) |
S74P |
probably benign |
Het |
| Zfp629 |
A |
G |
7: 127,211,012 (GRCm39) |
C266R |
probably damaging |
Het |
| Zscan2 |
A |
G |
7: 80,525,134 (GRCm39) |
K285R |
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 |
|
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'- TGTTTTCTCTGGTCAACAGAACGGG -3'
(R):5'- GGCAAAGCCTTTCACAATCGCTC -3'
Sequencing Primer
(F):5'- ATCACGCCACTGTGGTTG -3'
(R):5'- ACAATCGCTCATTTCTTCTCattc -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation