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: 0.243)
|
| 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 |
Incidental Mutation