Incidental Mutation 'R6434:Ifi44'
ID |
518683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi44
|
Ensembl Gene |
ENSMUSG00000028037 |
Gene Name |
interferon-induced protein 44 |
Synonyms |
A430056A10Rik, p44, MTAP44 |
MMRRC Submission |
044572-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6434 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
151436559-151455580 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 151454826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 133
(N133I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029671]
|
AlphaFold |
Q8BV66 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029671
AA Change: N133I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000029671 Gene: ENSMUSG00000028037 AA Change: N133I
Domain | Start | End | E-Value | Type |
Pfam:TLD
|
26 |
147 |
2.8e-7 |
PFAM |
low complexity region
|
193 |
208 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127733
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149919
|
Meta Mutation Damage Score |
0.1097 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alcam |
A |
C |
16: 52,109,190 (GRCm39) |
|
probably null |
Het |
Ankle2 |
A |
G |
5: 110,401,759 (GRCm39) |
Y807C |
probably damaging |
Het |
Arhgef26 |
A |
C |
3: 62,336,335 (GRCm39) |
M625L |
probably damaging |
Het |
Aspdh |
G |
A |
7: 44,116,474 (GRCm39) |
A86T |
probably damaging |
Het |
Atl1 |
G |
T |
12: 70,006,199 (GRCm39) |
E502* |
probably null |
Het |
Atp6v1c1 |
T |
C |
15: 38,677,790 (GRCm39) |
F105S |
probably damaging |
Het |
Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
Ccdc81 |
T |
C |
7: 89,525,352 (GRCm39) |
Y474C |
probably damaging |
Het |
Ccdc82 |
T |
C |
9: 13,251,659 (GRCm39) |
|
probably benign |
Het |
Ccdc96 |
T |
G |
5: 36,643,707 (GRCm39) |
V571G |
probably damaging |
Het |
Col6a5 |
C |
A |
9: 105,814,544 (GRCm39) |
E489D |
unknown |
Het |
Dchs2 |
T |
A |
3: 83,176,577 (GRCm39) |
I845N |
probably damaging |
Het |
Dnajc11 |
T |
C |
4: 152,063,751 (GRCm39) |
V449A |
probably damaging |
Het |
Ect2 |
A |
T |
3: 27,193,268 (GRCm39) |
Y269* |
probably null |
Het |
Egfr |
T |
C |
11: 16,819,294 (GRCm39) |
Y275H |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,004,129 (GRCm39) |
D779V |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,123,942 (GRCm39) |
V200A |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,884,253 (GRCm39) |
I1214T |
probably benign |
Het |
Gm3415 |
T |
A |
5: 146,494,752 (GRCm39) |
F138L |
probably benign |
Het |
Gtse1 |
C |
A |
15: 85,759,370 (GRCm39) |
T626K |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,393,464 (GRCm39) |
H4114Q |
probably damaging |
Het |
Ilf3 |
A |
G |
9: 21,314,447 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
A |
G |
1: 37,437,919 (GRCm39) |
T593A |
probably damaging |
Het |
Iqgap2 |
A |
T |
13: 95,819,441 (GRCm39) |
W634R |
possibly damaging |
Het |
Kcnh4 |
T |
A |
11: 100,641,105 (GRCm39) |
N448I |
probably damaging |
Het |
Klhl33 |
G |
A |
14: 51,130,564 (GRCm39) |
A310V |
probably damaging |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Lrig2 |
T |
C |
3: 104,398,863 (GRCm39) |
K222E |
possibly damaging |
Het |
Manba |
G |
A |
3: 135,217,734 (GRCm39) |
|
probably null |
Het |
Mga |
A |
T |
2: 119,754,419 (GRCm39) |
Q976L |
probably damaging |
Het |
Mtmr4 |
A |
G |
11: 87,504,309 (GRCm39) |
D1086G |
probably damaging |
Het |
Muc20 |
A |
G |
16: 32,615,176 (GRCm39) |
V67A |
probably benign |
Het |
Myh3 |
T |
A |
11: 66,973,193 (GRCm39) |
L97Q |
probably damaging |
Het |
Nars1 |
T |
C |
18: 64,640,872 (GRCm39) |
T195A |
probably benign |
Het |
Npat |
A |
T |
9: 53,474,739 (GRCm39) |
I844L |
possibly damaging |
Het |
Nrxn3 |
T |
C |
12: 88,762,285 (GRCm39) |
F111L |
probably benign |
Het |
Obp2b |
T |
C |
2: 25,628,599 (GRCm39) |
Y118H |
probably damaging |
Het |
Or5w1 |
T |
A |
2: 87,486,558 (GRCm39) |
K236* |
probably null |
Het |
Or7e170 |
A |
T |
9: 19,795,141 (GRCm39) |
Y153* |
probably null |
Het |
Patj |
A |
G |
4: 98,379,866 (GRCm39) |
D215G |
probably damaging |
Het |
Pex1 |
T |
A |
5: 3,680,196 (GRCm39) |
Y979* |
probably null |
Het |
Septin3 |
G |
A |
15: 82,163,804 (GRCm39) |
V54I |
possibly damaging |
Het |
Shc3 |
A |
G |
13: 51,603,326 (GRCm39) |
Y260H |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,674,477 (GRCm39) |
T942A |
probably benign |
Het |
Slco1c1 |
T |
C |
6: 141,493,576 (GRCm39) |
S371P |
probably damaging |
Het |
Snrnp200 |
T |
A |
2: 127,080,574 (GRCm39) |
I2029N |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,268,422 (GRCm39) |
V2089A |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,088,230 (GRCm39) |
S5016P |
probably damaging |
Het |
Tril |
G |
C |
6: 53,795,493 (GRCm39) |
D576E |
probably damaging |
Het |
Tubb2b |
C |
T |
13: 34,311,561 (GRCm39) |
A411T |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,156,949 (GRCm39) |
Y2325H |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,608,395 (GRCm39) |
C1547* |
probably null |
Het |
Utrn |
A |
T |
10: 12,401,171 (GRCm39) |
W98R |
probably damaging |
Het |
Vps35 |
C |
T |
8: 86,000,124 (GRCm39) |
D501N |
possibly damaging |
Het |
Wdr48 |
T |
C |
9: 119,745,879 (GRCm39) |
S421P |
possibly damaging |
Het |
Yju2b |
A |
G |
8: 84,989,630 (GRCm39) |
I63T |
probably damaging |
Het |
Zfp719 |
C |
A |
7: 43,240,412 (GRCm39) |
H667N |
probably damaging |
Het |
|
Other mutations in Ifi44 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00858:Ifi44
|
APN |
3 |
151,455,217 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01477:Ifi44
|
APN |
3 |
151,451,635 (GRCm39) |
splice site |
probably benign |
|
IGL01571:Ifi44
|
APN |
3 |
151,451,174 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02165:Ifi44
|
APN |
3 |
151,455,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02238:Ifi44
|
APN |
3 |
151,438,019 (GRCm39) |
makesense |
probably null |
|
IGL02609:Ifi44
|
APN |
3 |
151,438,134 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02650:Ifi44
|
APN |
3 |
151,451,492 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02726:Ifi44
|
APN |
3 |
151,455,233 (GRCm39) |
start gained |
probably benign |
|
IGL02977:Ifi44
|
APN |
3 |
151,445,016 (GRCm39) |
missense |
probably benign |
0.00 |
R0201:Ifi44
|
UTSW |
3 |
151,451,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R0454:Ifi44
|
UTSW |
3 |
151,451,134 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0763:Ifi44
|
UTSW |
3 |
151,455,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R1640:Ifi44
|
UTSW |
3 |
151,438,171 (GRCm39) |
missense |
probably benign |
0.00 |
R1747:Ifi44
|
UTSW |
3 |
151,454,922 (GRCm39) |
missense |
probably benign |
0.00 |
R2278:Ifi44
|
UTSW |
3 |
151,438,025 (GRCm39) |
missense |
probably benign |
|
R3816:Ifi44
|
UTSW |
3 |
151,454,894 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4075:Ifi44
|
UTSW |
3 |
151,451,613 (GRCm39) |
missense |
probably benign |
0.00 |
R4084:Ifi44
|
UTSW |
3 |
151,451,126 (GRCm39) |
critical splice donor site |
probably null |
|
R4782:Ifi44
|
UTSW |
3 |
151,451,229 (GRCm39) |
missense |
probably damaging |
0.99 |
R5071:Ifi44
|
UTSW |
3 |
151,455,269 (GRCm39) |
start gained |
probably benign |
|
R5074:Ifi44
|
UTSW |
3 |
151,455,269 (GRCm39) |
start gained |
probably benign |
|
R6030:Ifi44
|
UTSW |
3 |
151,455,195 (GRCm39) |
missense |
probably benign |
0.00 |
R6030:Ifi44
|
UTSW |
3 |
151,455,195 (GRCm39) |
missense |
probably benign |
0.00 |
R6128:Ifi44
|
UTSW |
3 |
151,454,823 (GRCm39) |
missense |
probably benign |
0.00 |
R6192:Ifi44
|
UTSW |
3 |
151,451,276 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6536:Ifi44
|
UTSW |
3 |
151,438,126 (GRCm39) |
missense |
probably benign |
0.03 |
R6902:Ifi44
|
UTSW |
3 |
151,451,536 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6946:Ifi44
|
UTSW |
3 |
151,451,536 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7346:Ifi44
|
UTSW |
3 |
151,438,094 (GRCm39) |
missense |
probably benign |
|
R7608:Ifi44
|
UTSW |
3 |
151,438,045 (GRCm39) |
missense |
probably damaging |
0.97 |
R7704:Ifi44
|
UTSW |
3 |
151,438,061 (GRCm39) |
missense |
probably benign |
0.44 |
R7971:Ifi44
|
UTSW |
3 |
151,454,857 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8255:Ifi44
|
UTSW |
3 |
151,451,619 (GRCm39) |
missense |
probably benign |
0.00 |
R8428:Ifi44
|
UTSW |
3 |
151,444,978 (GRCm39) |
nonsense |
probably null |
|
R8940:Ifi44
|
UTSW |
3 |
151,454,946 (GRCm39) |
missense |
probably benign |
0.00 |
R9087:Ifi44
|
UTSW |
3 |
151,451,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R9259:Ifi44
|
UTSW |
3 |
151,454,875 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9436:Ifi44
|
UTSW |
3 |
151,454,886 (GRCm39) |
missense |
probably benign |
0.00 |
R9516:Ifi44
|
UTSW |
3 |
151,438,108 (GRCm39) |
missense |
probably damaging |
0.97 |
R9619:Ifi44
|
UTSW |
3 |
151,451,509 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Ifi44
|
UTSW |
3 |
151,438,090 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ifi44
|
UTSW |
3 |
151,455,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGGTCATCTCTCCAGACTTG -3'
(R):5'- TGTGTTATTGGCATGTACCTGAAAG -3'
Sequencing Primer
(F):5'- TCCAGACTTGAGAGCCTGAGTTTAAG -3'
(R):5'- GCTTCCAGGGAAAAGATGTTTC -3'
|
Posted On |
2018-05-24 |