Incidental Mutation 'R6536:Ifi44'
| ID |
520397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi44
|
| Ensembl Gene |
ENSMUSG00000028037 |
| Gene Name |
interferon-induced protein 44 |
| Synonyms |
A430056A10Rik, p44, MTAP44 |
| MMRRC Submission |
044662-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6536 (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 G
at 151438126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 387
(V387A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029671]
|
| AlphaFold |
Q8BV66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029671
AA Change: V387A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029671
Gene: ENSMUSG00000028037
AA Change: V387A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
T |
11: 48,910,550 (GRCm39) |
H628N |
probably benign |
Het |
| Abcb1a |
T |
A |
5: 8,769,030 (GRCm39) |
F751I |
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,865,762 (GRCm39) |
V106M |
probably damaging |
Het |
| Add1 |
C |
A |
5: 34,758,780 (GRCm39) |
N31K |
possibly damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,552 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
G |
14: 78,748,754 (GRCm39) |
D1211A |
possibly damaging |
Het |
| Atp5f1c |
G |
A |
2: 10,085,127 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,477 (GRCm39) |
S72P |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,622,490 (GRCm39) |
W525L |
possibly damaging |
Het |
| Cripto |
A |
T |
9: 110,773,257 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
G |
A |
15: 47,701,863 (GRCm39) |
T1740I |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,697,450 (GRCm39) |
S2122A |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,726,027 (GRCm39) |
N583S |
probably damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,511 (GRCm39) |
V964A |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,235,367 (GRCm39) |
I366F |
probably benign |
Het |
| Hsd17b2 |
G |
A |
8: 118,428,921 (GRCm39) |
V63M |
possibly damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,610,508 (GRCm39) |
|
probably null |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Kcnc4 |
T |
C |
3: 107,355,512 (GRCm39) |
D312G |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klra6 |
C |
T |
6: 130,000,682 (GRCm39) |
V41I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,393,937 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,301,654 (GRCm39) |
E257G |
probably damaging |
Het |
| Or10v1 |
T |
C |
19: 11,873,760 (GRCm39) |
V125A |
probably benign |
Het |
| Or4f14 |
T |
C |
2: 111,743,119 (GRCm39) |
D52G |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,828,661 (GRCm39) |
Y789C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,467,221 (GRCm39) |
L1680P |
probably damaging |
Het |
| Pcdhac1 |
A |
G |
18: 37,223,367 (GRCm39) |
N60S |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,826,335 (GRCm39) |
N162S |
unknown |
Het |
| Pou3f3 |
A |
G |
1: 42,737,374 (GRCm39) |
I357V |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,993,441 (GRCm39) |
S1235P |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,521,081 (GRCm39) |
S148P |
possibly damaging |
Het |
| Usp49 |
A |
T |
17: 47,990,617 (GRCm39) |
I348F |
probably damaging |
Het |
| Wac |
A |
T |
18: 7,905,189 (GRCm39) |
|
probably null |
Het |
| Zfp775 |
A |
G |
6: 48,596,543 (GRCm39) |
K139R |
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 |
|
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'- GACCCAGACAAGAATTGGCC -3'
(R):5'- TGATCACCAAGCTCCTAGTTC -3'
Sequencing Primer
(F):5'- GGCCAAGTTGATGATACCGTC -3'
(R):5'- CAAAGATTCTCGCTGAACTTGGAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation