Incidental Mutation 'R3745:Zfp445'
ID |
271171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp445
|
Ensembl Gene |
ENSMUSG00000047036 |
Gene Name |
zinc finger protein 445 |
Synonyms |
ZNF168 |
MMRRC Submission |
040731-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.656)
|
Stock # |
R3745 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
122673594-122695071 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 122683791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 289
(D289E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148942
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056467]
[ENSMUST00000213971]
[ENSMUST00000214626]
[ENSMUST00000216063]
|
AlphaFold |
Q8R2V3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056467
AA Change: D289E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000055738 Gene: ENSMUSG00000047036 AA Change: D289E
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 |
probably benign
Transcript: ENSMUST00000213971
AA Change: D115E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214626
AA Change: D289E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216063
AA Change: D289E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216243
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Acot9 |
G |
A |
X: 154,054,941 (GRCm39) |
|
probably benign |
Het |
Akap10 |
A |
G |
11: 61,806,131 (GRCm39) |
V199A |
probably benign |
Het |
Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
Arhgap35 |
A |
T |
7: 16,297,647 (GRCm39) |
Y473N |
probably damaging |
Het |
Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
Astn1 |
G |
T |
1: 158,329,630 (GRCm39) |
A162S |
probably damaging |
Het |
Atosa |
T |
C |
9: 74,917,144 (GRCm39) |
V581A |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,505,425 (GRCm39) |
|
probably benign |
Het |
Cog6 |
A |
T |
3: 52,900,240 (GRCm39) |
M507K |
probably benign |
Het |
Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
Cyp2d11 |
A |
C |
15: 82,276,056 (GRCm39) |
I175S |
probably benign |
Het |
Dclk1 |
A |
G |
3: 55,154,863 (GRCm39) |
N98D |
possibly damaging |
Het |
Erich5 |
T |
A |
15: 34,470,878 (GRCm39) |
C36S |
probably damaging |
Het |
F5 |
A |
G |
1: 164,014,348 (GRCm39) |
I540V |
possibly damaging |
Het |
Fam20a |
A |
T |
11: 109,568,616 (GRCm39) |
S303R |
probably benign |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Gbp9 |
C |
A |
5: 105,253,724 (GRCm39) |
|
probably benign |
Het |
Gm6408 |
G |
T |
5: 146,421,246 (GRCm39) |
V292F |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,742,637 (GRCm39) |
|
probably benign |
Het |
Lrriq1 |
T |
C |
10: 103,006,717 (GRCm39) |
D1136G |
probably damaging |
Het |
Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
Mlkl |
A |
G |
8: 112,042,199 (GRCm39) |
|
probably benign |
Het |
Msantd1 |
T |
A |
5: 35,080,811 (GRCm39) |
V155E |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,064,829 (GRCm39) |
|
probably benign |
Het |
Nbn |
T |
A |
4: 15,976,163 (GRCm39) |
C375S |
possibly damaging |
Het |
Nell2 |
A |
C |
15: 95,330,554 (GRCm39) |
C231W |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,388,358 (GRCm39) |
S421P |
probably benign |
Het |
Npr3 |
A |
T |
15: 11,905,577 (GRCm39) |
V50E |
probably damaging |
Het |
Or4d10 |
A |
G |
19: 12,051,744 (GRCm39) |
L84P |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,728,435 (GRCm39) |
|
probably benign |
Het |
Pkn3 |
A |
G |
2: 29,980,353 (GRCm39) |
K785R |
probably damaging |
Het |
Ppef2 |
T |
A |
5: 92,387,010 (GRCm39) |
|
probably benign |
Het |
Prdm10 |
T |
C |
9: 31,251,703 (GRCm39) |
I357T |
possibly damaging |
Het |
Prrc2c |
G |
A |
1: 162,525,754 (GRCm39) |
T284I |
unknown |
Het |
Psma3 |
T |
C |
12: 71,025,522 (GRCm39) |
S13P |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rpl6l |
T |
C |
10: 110,962,226 (GRCm39) |
|
noncoding transcript |
Het |
Tex11 |
A |
G |
X: 99,960,178 (GRCm39) |
V522A |
probably benign |
Het |
Thsd7b |
A |
G |
1: 129,605,978 (GRCm39) |
E573G |
probably benign |
Het |
Tom1l1 |
A |
G |
11: 90,548,567 (GRCm39) |
S259P |
probably benign |
Het |
Trpm8 |
A |
G |
1: 88,276,049 (GRCm39) |
E549G |
probably benign |
Het |
Vmn1r66 |
C |
T |
7: 10,008,248 (GRCm39) |
A262T |
possibly damaging |
Het |
Zc3h13 |
T |
A |
14: 75,568,101 (GRCm39) |
D1131E |
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 |
|
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'- GTGGCCGATTATAAGTCAAGCAG -3'
(R):5'- GCTATCACAAATGGCTGGCC -3'
Sequencing Primer
(F):5'- CAGAAAGTGGCCCAGGGTTC -3'
(R):5'- GCCAGGCATTCTGTCCTAG -3'
|
Posted On |
2015-03-18 |