Incidental Mutation 'R6451:Zfp944'
ID |
516366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp944
|
Ensembl Gene |
ENSMUSG00000033972 |
Gene Name |
zinc finger protein 944 |
Synonyms |
6330416L07Rik |
MMRRC Submission |
044587-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.223)
|
Stock # |
R6451 (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 C
at 22557846 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 467
(E467G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115535]
|
AlphaFold |
E9PUS4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000115535
AA Change: E467G
PolyPhen 2
Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000111197 Gene: ENSMUSG00000033972 AA Change: E467G
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 |
|
Meta Mutation Damage Score |
0.2891 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,842,733 (GRCm39) |
V1164E |
probably damaging |
Het |
Acnat2 |
A |
G |
4: 49,380,262 (GRCm39) |
V372A |
probably benign |
Het |
Adam17 |
A |
T |
12: 21,392,883 (GRCm39) |
D313E |
probably benign |
Het |
Adgrf5 |
A |
T |
17: 43,735,709 (GRCm39) |
R200* |
probably null |
Het |
Akr1d1 |
G |
A |
6: 37,527,150 (GRCm39) |
E129K |
probably benign |
Het |
Arhgap29 |
T |
A |
3: 121,787,230 (GRCm39) |
V382E |
probably damaging |
Het |
Arhgef40 |
G |
A |
14: 52,238,456 (GRCm39) |
V1312I |
probably damaging |
Het |
Bbs9 |
A |
G |
9: 22,479,060 (GRCm39) |
S168G |
probably damaging |
Het |
Carmil1 |
T |
A |
13: 24,276,541 (GRCm39) |
K202* |
probably null |
Het |
Cnep1r1 |
A |
G |
8: 88,846,438 (GRCm39) |
E19G |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 31,022,765 (GRCm39) |
Q1124L |
probably benign |
Het |
Dph1 |
G |
T |
11: 75,072,143 (GRCm39) |
A242D |
probably damaging |
Het |
Efcab7 |
T |
A |
4: 99,719,738 (GRCm39) |
Y73* |
probably null |
Het |
Esp18 |
G |
T |
17: 39,720,853 (GRCm39) |
E33* |
probably null |
Het |
Fbln2 |
T |
A |
6: 91,211,241 (GRCm39) |
I395K |
probably benign |
Het |
Grin3a |
C |
T |
4: 49,844,969 (GRCm39) |
C38Y |
probably damaging |
Het |
Hivep3 |
T |
A |
4: 119,956,105 (GRCm39) |
S1474T |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,868,670 (GRCm39) |
V45M |
probably damaging |
Het |
Intu |
T |
A |
3: 40,655,723 (GRCm39) |
F937I |
possibly damaging |
Het |
Llgl2 |
G |
A |
11: 115,735,767 (GRCm39) |
G121D |
probably damaging |
Het |
Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
Nsmce4a |
G |
T |
7: 130,144,479 (GRCm39) |
|
|
Het |
Or5w20 |
T |
C |
2: 87,726,935 (GRCm39) |
Y131H |
probably damaging |
Het |
Or6c69c |
A |
T |
10: 129,911,007 (GRCm39) |
M243L |
probably benign |
Het |
Phactr1 |
T |
A |
13: 43,286,469 (GRCm39) |
V590E |
probably damaging |
Het |
Pigo |
G |
A |
4: 43,021,412 (GRCm39) |
S510L |
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Rnf19a |
A |
G |
15: 36,253,205 (GRCm39) |
I378T |
possibly damaging |
Het |
Rnf216 |
G |
T |
5: 142,978,589 (GRCm39) |
P793T |
possibly damaging |
Het |
Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
Son |
T |
A |
16: 91,454,490 (GRCm39) |
M1079K |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,624,596 (GRCm39) |
M166K |
probably benign |
Het |
Spta1 |
G |
A |
1: 174,044,767 (GRCm39) |
E1468K |
probably damaging |
Het |
Taar3 |
A |
T |
10: 23,825,705 (GRCm39) |
I84F |
possibly damaging |
Het |
Tas2r107 |
T |
A |
6: 131,636,977 (GRCm39) |
D24V |
possibly damaging |
Het |
Tmc2 |
A |
G |
2: 130,106,123 (GRCm39) |
R885G |
probably damaging |
Het |
Tox3 |
C |
A |
8: 90,984,687 (GRCm39) |
R164L |
probably benign |
Het |
Ttc5 |
A |
G |
14: 51,004,664 (GRCm39) |
I380T |
probably damaging |
Het |
Vmn1r179 |
A |
G |
7: 23,628,076 (GRCm39) |
N89S |
possibly damaging |
Het |
Zzef1 |
A |
T |
11: 72,813,982 (GRCm39) |
D2857V |
possibly 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 |
R6566:Zfp944
|
UTSW |
17 |
22,558,726 (GRCm39) |
missense |
possibly damaging |
0.96 |
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'- ATGCCACATGTTTTCCAGCAG -3'
(R):5'- AAGCCTTATAGATGTAGTGGATGTG -3'
Sequencing Primer
(F):5'- TCCAGCAGAAACTACTTTTCAGG -3'
(R):5'- GTGGATGTGACAAAATCTTTAATCAC -3'
|
Posted On |
2018-05-21 |