Incidental Mutation 'R4986:Zfp944'
| ID |
385895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp944
|
| Ensembl Gene |
ENSMUSG00000033972 |
| Gene Name |
zinc finger protein 944 |
| Synonyms |
6330416L07Rik |
| MMRRC Submission |
042580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R4986 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
22556970-22580381 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22558211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 345
(H345Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115535]
|
| AlphaFold |
E9PUS4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115535
AA Change: H345Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111197
Gene: ENSMUSG00000033972
AA Change: H345Q
| 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 |
0.2867 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.2%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,573,317 (GRCm39) |
C1005S |
probably benign |
Het |
| Armh4 |
A |
T |
14: 49,989,111 (GRCm39) |
D619E |
probably damaging |
Het |
| Ccdc34 |
T |
C |
2: 109,848,214 (GRCm39) |
M1T |
probably null |
Het |
| Ceacam5 |
T |
A |
7: 17,491,758 (GRCm39) |
N709K |
possibly damaging |
Het |
| Ces2f |
G |
A |
8: 105,678,657 (GRCm39) |
S298N |
probably benign |
Het |
| Defa30 |
T |
A |
8: 21,625,432 (GRCm39) |
Y65* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,809,182 (GRCm39) |
C1314G |
probably damaging |
Het |
| Emc2 |
A |
G |
15: 43,375,180 (GRCm39) |
M226V |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,636 (GRCm39) |
Y2122C |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,431,037 (GRCm39) |
D560G |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,760 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
A |
T |
14: 45,483,743 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
C |
T |
16: 21,889,056 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,236,027 (GRCm39) |
T1385A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,141,840 (GRCm39) |
N1734I |
probably damaging |
Het |
| Kbtbd6 |
A |
G |
14: 79,690,049 (GRCm39) |
H248R |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,284,914 (GRCm39) |
R5650Q |
probably damaging |
Het |
| Mdh1 |
A |
G |
11: 21,508,545 (GRCm39) |
F266L |
possibly damaging |
Het |
| Mecom |
G |
T |
3: 30,034,848 (GRCm39) |
P466Q |
probably damaging |
Het |
| Muc20 |
A |
G |
16: 32,598,009 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,772 (GRCm39) |
N170Y |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,687,858 (GRCm39) |
L113Q |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,846,061 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,492 (GRCm39) |
Y4179* |
probably null |
Het |
| Septin11 |
T |
C |
5: 93,309,100 (GRCm39) |
V203A |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,248,910 (GRCm39) |
T173S |
probably benign |
Het |
| Slain1 |
A |
T |
14: 103,925,541 (GRCm39) |
R296S |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,037,592 (GRCm39) |
*93C |
probably null |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Srl |
T |
C |
16: 4,314,646 (GRCm39) |
Y332C |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,000 (GRCm39) |
H95Y |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,090,985 (GRCm39) |
D532N |
probably benign |
Het |
| Ybx1 |
C |
T |
4: 119,139,627 (GRCm39) |
V123I |
probably damaging |
Het |
| Zfp993 |
T |
A |
4: 146,742,014 (GRCm39) |
F113I |
probably benign |
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 |
|
R6451:Zfp944
|
UTSW |
17 |
22,557,846 (GRCm39) |
missense |
probably benign |
0.40 |
|
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'- ACATCCACTACATCTATAAGGCTTCTC -3'
(R):5'- TCGGGCTGAAACAAACCAATAG -3'
Sequencing Primer
(F):5'- ACTACATCTATAAGGCTTCTCTTCTG -3'
(R):5'- GTGAATGTTCCAGATGCTTCACCAAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation