Incidental Mutation 'R6566:Zfp944'
ID |
522711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp944
|
Ensembl Gene |
ENSMUSG00000033972 |
Gene Name |
zinc finger protein 944 |
Synonyms |
6330416L07Rik |
MMRRC Submission |
044690-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.223)
|
Stock # |
R6566 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
22556970-22580381 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 22558726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 174
(K174Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115535]
|
AlphaFold |
E9PUS4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115535
AA Change: K174Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000111197 Gene: ENSMUSG00000033972 AA Change: K174Q
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
76 |
2.08e-21 |
SMART |
ZnF_C2H2
|
183 |
205 |
1.01e-1 |
SMART |
ZnF_C2H2
|
211 |
233 |
1.07e0 |
SMART |
ZnF_C2H2
|
239 |
261 |
1.95e-3 |
SMART |
ZnF_C2H2
|
267 |
289 |
1.22e-4 |
SMART |
ZnF_C2H2
|
295 |
317 |
2.24e-3 |
SMART |
ZnF_C2H2
|
323 |
345 |
1.82e-3 |
SMART |
ZnF_C2H2
|
351 |
373 |
5.99e-4 |
SMART |
ZnF_C2H2
|
379 |
401 |
4.79e-3 |
SMART |
ZnF_C2H2
|
407 |
429 |
2.99e-4 |
SMART |
ZnF_C2H2
|
435 |
457 |
4.17e-3 |
SMART |
ZnF_C2H2
|
463 |
485 |
1.36e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
G |
15: 91,075,321 (GRCm39) |
I164T |
probably damaging |
Het |
Adad2 |
C |
T |
8: 120,340,971 (GRCm39) |
P164S |
probably benign |
Het |
Adcy3 |
T |
A |
12: 4,244,324 (GRCm39) |
L278H |
probably damaging |
Het |
Aldh16a1 |
A |
C |
7: 44,792,651 (GRCm39) |
D670E |
probably benign |
Het |
Bcat1 |
A |
G |
6: 144,961,210 (GRCm39) |
M131T |
probably damaging |
Het |
Dcstamp |
T |
C |
15: 39,617,732 (GRCm39) |
F47S |
possibly damaging |
Het |
Dsg1b |
T |
C |
18: 20,530,499 (GRCm39) |
F385L |
probably damaging |
Het |
Exoc8 |
A |
C |
8: 125,622,783 (GRCm39) |
L528R |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,011,275 (GRCm39) |
V2125A |
possibly damaging |
Het |
Gm57859 |
C |
T |
11: 113,578,824 (GRCm39) |
P73L |
probably damaging |
Het |
Hecw1 |
T |
C |
13: 14,471,868 (GRCm39) |
D600G |
probably damaging |
Het |
Ice2 |
G |
A |
9: 69,323,511 (GRCm39) |
V669I |
probably benign |
Het |
Khdc4 |
C |
T |
3: 88,618,961 (GRCm39) |
T555M |
probably damaging |
Het |
Lsr |
T |
A |
7: 30,671,508 (GRCm39) |
Y75F |
possibly damaging |
Het |
Mrps30 |
C |
A |
13: 118,523,662 (GRCm39) |
V37L |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Or6c217 |
T |
A |
10: 129,737,947 (GRCm39) |
I211L |
probably benign |
Het |
Pign |
A |
G |
1: 105,565,906 (GRCm39) |
|
probably null |
Het |
Plcd3 |
A |
G |
11: 102,964,626 (GRCm39) |
Y582H |
probably damaging |
Het |
Rad9b |
A |
G |
5: 122,490,630 (GRCm39) |
W29R |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,319,316 (GRCm39) |
F912I |
probably benign |
Het |
Rgs16 |
C |
T |
1: 153,619,546 (GRCm39) |
S184L |
unknown |
Het |
Runx2 |
A |
G |
17: 45,125,375 (GRCm39) |
|
probably null |
Het |
Serpina1f |
T |
A |
12: 103,659,794 (GRCm39) |
I163F |
probably damaging |
Het |
Serpina9 |
T |
C |
12: 103,963,296 (GRCm39) |
E404G |
possibly damaging |
Het |
Slc4a4 |
T |
C |
5: 89,297,192 (GRCm39) |
S511P |
possibly damaging |
Het |
Speg |
A |
T |
1: 75,365,107 (GRCm39) |
E390V |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,912,966 (GRCm39) |
V614A |
probably benign |
Het |
Tmc5 |
T |
C |
7: 118,247,067 (GRCm39) |
S524P |
probably damaging |
Het |
Tuba4a |
G |
A |
1: 75,193,930 (GRCm39) |
T51I |
probably damaging |
Het |
Tymp |
T |
A |
15: 89,257,803 (GRCm39) |
T421S |
probably benign |
Het |
Uvssa |
A |
G |
5: 33,549,520 (GRCm39) |
R394G |
possibly damaging |
Het |
Wdr7 |
T |
G |
18: 63,888,126 (GRCm39) |
I533S |
possibly damaging |
Het |
Zbtb5 |
G |
A |
4: 44,994,508 (GRCm39) |
T292M |
probably damaging |
Het |
|
Other mutations in Zfp944 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00595:Zfp944
|
APN |
17 |
22,558,186 (GRCm39) |
missense |
probably benign |
0.10 |
IGL00917:Zfp944
|
APN |
17 |
22,558,765 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01093:Zfp944
|
APN |
17 |
22,562,615 (GRCm39) |
splice site |
probably benign |
|
IGL02113:Zfp944
|
APN |
17 |
22,558,047 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02694:Zfp944
|
APN |
17 |
22,558,899 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03135:Zfp944
|
APN |
17 |
22,558,737 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03172:Zfp944
|
APN |
17 |
22,559,018 (GRCm39) |
missense |
probably damaging |
0.98 |
R0121:Zfp944
|
UTSW |
17 |
22,558,249 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0336:Zfp944
|
UTSW |
17 |
22,558,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R0755:Zfp944
|
UTSW |
17 |
22,558,889 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1536:Zfp944
|
UTSW |
17 |
22,558,697 (GRCm39) |
nonsense |
probably null |
|
R1708:Zfp944
|
UTSW |
17 |
22,558,026 (GRCm39) |
missense |
probably damaging |
0.98 |
R1886:Zfp944
|
UTSW |
17 |
22,558,960 (GRCm39) |
missense |
probably benign |
0.04 |
R1928:Zfp944
|
UTSW |
17 |
22,560,065 (GRCm39) |
missense |
probably damaging |
0.96 |
R1950:Zfp944
|
UTSW |
17 |
22,558,681 (GRCm39) |
missense |
probably benign |
0.16 |
R2075:Zfp944
|
UTSW |
17 |
22,558,178 (GRCm39) |
nonsense |
probably null |
|
R2101:Zfp944
|
UTSW |
17 |
22,558,809 (GRCm39) |
missense |
probably benign |
0.41 |
R2433:Zfp944
|
UTSW |
17 |
22,558,193 (GRCm39) |
nonsense |
probably null |
|
R4698:Zfp944
|
UTSW |
17 |
22,558,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R4986:Zfp944
|
UTSW |
17 |
22,558,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R6451:Zfp944
|
UTSW |
17 |
22,557,846 (GRCm39) |
missense |
probably benign |
0.40 |
R6752:Zfp944
|
UTSW |
17 |
22,558,500 (GRCm39) |
missense |
probably benign |
0.01 |
R7064:Zfp944
|
UTSW |
17 |
22,558,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R8193:Zfp944
|
UTSW |
17 |
22,558,861 (GRCm39) |
nonsense |
probably null |
|
R8323:Zfp944
|
UTSW |
17 |
22,558,235 (GRCm39) |
missense |
probably benign |
|
R8328:Zfp944
|
UTSW |
17 |
22,558,705 (GRCm39) |
nonsense |
probably null |
|
R8902:Zfp944
|
UTSW |
17 |
22,558,761 (GRCm39) |
missense |
probably benign |
0.41 |
R8915:Zfp944
|
UTSW |
17 |
22,558,507 (GRCm39) |
missense |
probably benign |
0.05 |
R9130:Zfp944
|
UTSW |
17 |
22,560,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R9248:Zfp944
|
UTSW |
17 |
22,562,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGTACATTTGTAAGGTTTCTCTCCTG -3'
(R):5'- CAGGGATACACATGTTAAGTCATC -3'
Sequencing Primer
(F):5'- AAGGTTTCTCTCCTGTATGAATTTTC -3'
(R):5'- GGATACACATGTTAAGTCATCAGATG -3'
|
Posted On |
2018-06-06 |