Incidental Mutation 'R6902:Ifi44'
ID |
538571 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi44
|
Ensembl Gene |
ENSMUSG00000028037 |
Gene Name |
interferon-induced protein 44 |
Synonyms |
A430056A10Rik, p44, MTAP44 |
MMRRC Submission |
045032-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6902 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
151436559-151455580 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 151451536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 190
(I190N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029671]
|
AlphaFold |
Q8BV66 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029671
AA Change: I190N
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029671 Gene: ENSMUSG00000028037 AA Change: I190N
Domain | Start | End | E-Value | Type |
Pfam:TLD
|
26 |
147 |
2.8e-7 |
PFAM |
low complexity region
|
193 |
208 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3945 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
C |
G |
13: 119,624,680 (GRCm39) |
|
probably benign |
Het |
Abcc9 |
T |
A |
6: 142,624,953 (GRCm39) |
S481C |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,837,434 (GRCm39) |
S773R |
probably damaging |
Het |
Alkbh5 |
G |
A |
11: 60,429,381 (GRCm39) |
A45T |
probably benign |
Het |
Ankrd6 |
C |
A |
4: 32,806,419 (GRCm39) |
Q576H |
probably damaging |
Het |
Ankrd6 |
T |
A |
4: 32,806,420 (GRCm39) |
Q576L |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,299,528 (GRCm39) |
N332S |
possibly damaging |
Het |
Cc2d2b |
A |
G |
19: 40,804,733 (GRCm39) |
Q1250R |
possibly damaging |
Het |
Chd9 |
A |
C |
8: 91,769,579 (GRCm39) |
N2539T |
probably damaging |
Het |
Clec4b2 |
C |
T |
6: 123,177,987 (GRCm39) |
Q101* |
probably null |
Het |
Clstn2 |
A |
T |
9: 97,351,875 (GRCm39) |
F517I |
probably damaging |
Het |
Cog2 |
A |
G |
8: 125,273,430 (GRCm39) |
K590E |
probably damaging |
Het |
Coq9 |
G |
A |
8: 95,577,180 (GRCm39) |
E182K |
probably benign |
Het |
Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
Focad |
C |
T |
4: 88,148,713 (GRCm39) |
R477C |
unknown |
Het |
Gja10 |
G |
T |
4: 32,601,905 (GRCm39) |
H160N |
probably damaging |
Het |
Gpr132 |
T |
A |
12: 112,815,830 (GRCm39) |
Y332F |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,785,234 (GRCm39) |
T1495A |
probably benign |
Het |
Hivep3 |
T |
A |
4: 119,953,192 (GRCm39) |
S503T |
possibly damaging |
Het |
Igf1r |
T |
A |
7: 67,653,911 (GRCm39) |
C150S |
probably damaging |
Het |
Ighv1-42 |
T |
A |
12: 114,901,155 (GRCm39) |
N4Y |
possibly damaging |
Het |
Klra9 |
T |
A |
6: 130,156,003 (GRCm39) |
I251F |
probably benign |
Het |
Krt79 |
T |
C |
15: 101,840,314 (GRCm39) |
N294S |
probably benign |
Het |
Lama2 |
T |
G |
10: 26,857,625 (GRCm39) |
T3075P |
probably damaging |
Het |
Lrfn1 |
T |
G |
7: 28,159,238 (GRCm39) |
C386G |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,289,847 (GRCm39) |
D3664G |
probably damaging |
Het |
Mfsd3 |
T |
A |
15: 76,587,349 (GRCm39) |
M344K |
probably damaging |
Het |
Mier2 |
C |
A |
10: 79,376,673 (GRCm39) |
|
probably benign |
Het |
Mmp2 |
G |
A |
8: 93,563,545 (GRCm39) |
V340M |
probably damaging |
Het |
Mrgprb3 |
T |
A |
7: 48,293,447 (GRCm39) |
I35F |
probably benign |
Het |
Myo5b |
A |
T |
18: 74,809,756 (GRCm39) |
I613F |
possibly damaging |
Het |
Nicol1 |
G |
A |
5: 34,140,923 (GRCm39) |
|
probably benign |
Het |
Or14c43 |
T |
A |
7: 86,114,995 (GRCm39) |
C125* |
probably null |
Het |
Or51f1e |
A |
T |
7: 102,747,562 (GRCm39) |
I205F |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,670 (GRCm39) |
L30M |
possibly damaging |
Het |
Or8g30 |
C |
A |
9: 39,230,315 (GRCm39) |
L198F |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,151,506 (GRCm39) |
T867A |
probably benign |
Het |
Papolb |
T |
A |
5: 142,513,906 (GRCm39) |
H579L |
probably benign |
Het |
Pcf11 |
C |
A |
7: 92,307,507 (GRCm39) |
G887V |
probably damaging |
Het |
Pdzd8 |
A |
G |
19: 59,289,829 (GRCm39) |
S524P |
possibly damaging |
Het |
Pole3 |
T |
C |
4: 62,442,300 (GRCm39) |
|
probably benign |
Het |
Prdm14 |
C |
T |
1: 13,192,645 (GRCm39) |
V365I |
probably benign |
Het |
Shank1 |
T |
A |
7: 44,006,239 (GRCm39) |
F1985L |
probably benign |
Het |
Slc13a1 |
T |
C |
6: 24,097,665 (GRCm39) |
I421V |
possibly damaging |
Het |
Slc2a6 |
C |
T |
2: 26,913,172 (GRCm39) |
V374M |
probably benign |
Het |
Spata1 |
A |
T |
3: 146,181,078 (GRCm39) |
N293K |
possibly damaging |
Het |
Stk40 |
T |
A |
4: 126,031,605 (GRCm39) |
D366E |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,288 (GRCm39) |
L142S |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,958,444 (GRCm39) |
S266P |
probably damaging |
Het |
Trgv1 |
T |
C |
13: 19,524,190 (GRCm39) |
L2P |
probably benign |
Het |
Vipr2 |
A |
T |
12: 116,102,819 (GRCm39) |
T310S |
possibly damaging |
Het |
Vti1a |
A |
T |
19: 55,487,673 (GRCm39) |
|
probably null |
Het |
Zfp961 |
A |
G |
8: 72,722,522 (GRCm39) |
K345R |
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 |
|
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 |
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'- ATTGACTGGCCAAATAGTTCCC -3'
(R):5'- CTTGTGTGCACGTGGAAGAAG -3'
Sequencing Primer
(F):5'- GTTCCCAATACAGTTAAGTTGAACCG -3'
(R):5'- GCTGCTAATTAGAAACGCTATAGG -3'
|
Posted On |
2018-11-06 |