Incidental Mutation 'R2278:Ifi44'
ID |
242890 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi44
|
Ensembl Gene |
ENSMUSG00000028037 |
Gene Name |
interferon-induced protein 44 |
Synonyms |
A430056A10Rik, p44, MTAP44 |
MMRRC Submission |
040277-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2278 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
151436559-151455580 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 151438025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 421
(N421D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029671]
|
AlphaFold |
Q8BV66 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029671
AA Change: N421D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029671 Gene: ENSMUSG00000028037 AA Change: N421D
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: ENSMUST00000149919
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,201,400 (GRCm39) |
D251G |
probably damaging |
Het |
Aqp3 |
T |
C |
4: 41,093,836 (GRCm39) |
D219G |
probably damaging |
Het |
Arhgef15 |
C |
A |
11: 68,842,517 (GRCm39) |
W404C |
probably damaging |
Het |
Bdp1 |
T |
A |
13: 100,197,847 (GRCm39) |
E846V |
probably damaging |
Het |
Bdp1 |
C |
A |
13: 100,197,838 (GRCm39) |
S849I |
probably benign |
Het |
Bmp5 |
T |
A |
9: 75,683,830 (GRCm39) |
N152K |
possibly damaging |
Het |
Bpifb2 |
C |
T |
2: 153,720,399 (GRCm39) |
Q53* |
probably null |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Clca3a1 |
A |
G |
3: 144,463,785 (GRCm39) |
V164A |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,749,234 (GRCm39) |
I1922T |
probably damaging |
Het |
Gnpat |
A |
G |
8: 125,603,659 (GRCm39) |
D179G |
probably benign |
Het |
Hook1 |
A |
G |
4: 95,886,957 (GRCm39) |
Q188R |
probably benign |
Het |
Hsf4 |
G |
A |
8: 105,996,628 (GRCm39) |
D18N |
probably null |
Het |
Igdcc4 |
C |
T |
9: 65,038,025 (GRCm39) |
T801I |
probably damaging |
Het |
Itgad |
T |
C |
7: 127,804,342 (GRCm39) |
S107P |
possibly damaging |
Het |
Kank2 |
C |
A |
9: 21,681,080 (GRCm39) |
M816I |
probably damaging |
Het |
Kcnk18 |
T |
C |
19: 59,223,926 (GRCm39) |
I357T |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,593,151 (GRCm39) |
R120* |
probably null |
Het |
Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
Lypla1 |
T |
G |
1: 4,911,321 (GRCm39) |
|
probably null |
Het |
Mknk1 |
C |
T |
4: 115,732,690 (GRCm39) |
A306V |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,249,570 (GRCm39) |
S1245T |
possibly damaging |
Het |
Npas3 |
T |
A |
12: 53,687,285 (GRCm39) |
V122E |
possibly damaging |
Het |
Nrxn2 |
G |
C |
19: 6,531,883 (GRCm39) |
Q789H |
probably damaging |
Het |
Or2h1b |
A |
T |
17: 37,462,145 (GRCm39) |
C239* |
probably null |
Het |
Or3a1 |
T |
C |
11: 74,225,991 (GRCm39) |
E22G |
probably benign |
Het |
Or5p69 |
T |
C |
7: 107,967,288 (GRCm39) |
V197A |
probably benign |
Het |
Or5w12 |
A |
G |
2: 87,502,289 (GRCm39) |
C141R |
possibly damaging |
Het |
Otog |
G |
A |
7: 45,949,468 (GRCm39) |
V2369M |
probably damaging |
Het |
Pfkp |
T |
C |
13: 6,669,245 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
C |
17: 64,599,865 (GRCm39) |
S478G |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,095,919 (GRCm39) |
I474M |
possibly damaging |
Het |
Psg22 |
C |
A |
7: 18,460,762 (GRCm39) |
Q464K |
possibly damaging |
Het |
Rp1 |
C |
T |
1: 4,418,250 (GRCm39) |
S954N |
possibly damaging |
Het |
Rps27l |
T |
A |
9: 66,854,208 (GRCm39) |
D34E |
probably benign |
Het |
Sae1 |
A |
C |
7: 16,104,291 (GRCm39) |
L106R |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,913,257 (GRCm39) |
Q1553L |
probably benign |
Het |
Slc11a2 |
A |
G |
15: 100,307,962 (GRCm39) |
|
probably null |
Het |
Slc14a2 |
A |
T |
18: 78,203,159 (GRCm39) |
M556K |
probably benign |
Het |
Slk |
T |
G |
19: 47,608,188 (GRCm39) |
I380M |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,119,396 (GRCm39) |
N236D |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
Tiam2 |
G |
A |
17: 3,477,495 (GRCm39) |
V573M |
probably damaging |
Het |
Tmem170 |
C |
A |
8: 112,596,349 (GRCm39) |
V59L |
probably benign |
Het |
Tmem255b |
C |
T |
8: 13,501,081 (GRCm39) |
A106V |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
Vps13c |
A |
G |
9: 67,846,354 (GRCm39) |
M2141V |
probably benign |
Het |
Vwa5a |
T |
C |
9: 38,634,503 (GRCm39) |
Y143H |
probably damaging |
Het |
Zfp280d |
T |
A |
9: 72,246,055 (GRCm39) |
C707* |
probably null |
Het |
Zfp668 |
A |
T |
7: 127,465,998 (GRCm39) |
N395K |
probably benign |
Het |
Znhit6 |
G |
T |
3: 145,281,991 (GRCm39) |
|
probably benign |
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 |
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 |
|
R6434:Ifi44
|
UTSW |
3 |
151,454,826 (GRCm39) |
missense |
probably benign |
0.02 |
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'- TCTTCCAAGACTGATTTGAGGAAG -3'
(R):5'- ACACAGCTCTGGGTTTCCAC -3'
Sequencing Primer
(F):5'- CCAAGACTGATTTGAGGAAGATATC -3'
(R):5'- CCACTTTTGTATTTCAGCTGGAGGC -3'
|
Posted On |
2014-10-16 |