Incidental Mutation 'R7989:Igtp'
| ID |
651645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igtp
|
| Ensembl Gene |
ENSMUSG00000078853 |
| Gene Name |
interferon gamma induced GTPase |
| Synonyms |
Irgm3 |
| MMRRC Submission |
046030-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
58090382-58098417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 58097205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 125
(K125N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035266]
[ENSMUST00000058704]
[ENSMUST00000094169]
[ENSMUST00000168280]
|
| AlphaFold |
Q9DCE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035266
AA Change: K125N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047356
Gene: ENSMUSG00000078853
AA Change: K125N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
50 |
412 |
4.6e-161 |
PFAM |
|
Pfam:MMR_HSR1
|
86 |
200 |
1.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058704
|
| SMART Domains |
Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
30 |
387 |
8.1e-165 |
PFAM |
|
Pfam:MMR_HSR1
|
66 |
179 |
9.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168280
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. They do have a severely compromised response to Toxoplasma gondii infections however [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,875,278 (GRCm39) |
E631D |
probably benign |
Het |
| Abcc12 |
T |
C |
8: 87,232,108 (GRCm39) |
T1317A |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,836,772 (GRCm39) |
Q663R |
probably benign |
Het |
| Arhgef28 |
G |
A |
13: 98,036,243 (GRCm39) |
T1672I |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,677,012 (GRCm39) |
D496E |
probably benign |
Het |
| Dse |
A |
T |
10: 34,029,454 (GRCm39) |
Y545* |
probably null |
Het |
| Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Fam124b |
A |
T |
1: 80,191,311 (GRCm39) |
L24Q |
probably damaging |
Het |
| Fam180a |
A |
T |
6: 35,292,273 (GRCm39) |
N44K |
probably damaging |
Het |
| Gabrg3 |
G |
T |
7: 56,374,389 (GRCm39) |
N392K |
possibly damaging |
Het |
| Gprin2 |
G |
A |
14: 33,916,661 (GRCm39) |
R370* |
probably null |
Het |
| Grhpr |
C |
T |
4: 44,989,008 (GRCm39) |
P275S |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,526,450 (GRCm39) |
Q374R |
probably benign |
Het |
| Il17a |
T |
C |
1: 20,802,438 (GRCm39) |
V49A |
possibly damaging |
Het |
| Klhl12 |
T |
C |
1: 134,417,143 (GRCm39) |
S552P |
probably benign |
Het |
| Or4c15 |
T |
C |
2: 88,759,858 (GRCm39) |
D267G |
probably damaging |
Het |
| Or5d45 |
T |
A |
2: 88,153,164 (GRCm39) |
N295I |
probably damaging |
Het |
| Pkd2l1 |
A |
T |
19: 44,142,507 (GRCm39) |
C512S |
probably benign |
Het |
| Plekha7 |
G |
A |
7: 115,757,558 (GRCm39) |
P464L |
probably benign |
Het |
| Plk5 |
A |
G |
10: 80,199,899 (GRCm39) |
R469G |
probably benign |
Het |
| Pphln1 |
C |
A |
15: 93,386,960 (GRCm39) |
H353N |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,166 (GRCm39) |
N341D |
probably damaging |
Het |
| Skp2 |
C |
T |
15: 9,127,979 (GRCm39) |
R129H |
probably benign |
Het |
| Slc5a6 |
A |
G |
5: 31,199,480 (GRCm39) |
|
probably null |
Het |
| Spata31d1b |
C |
T |
13: 59,866,182 (GRCm39) |
P1110L |
possibly damaging |
Het |
| Speer4a2 |
A |
T |
5: 26,290,643 (GRCm39) |
L176Q |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,226,170 (GRCm39) |
S368P |
|
Het |
| Tiam2 |
G |
T |
17: 3,568,524 (GRCm39) |
E1557* |
probably null |
Het |
| Tmem200a |
C |
A |
10: 25,869,955 (GRCm39) |
V105F |
probably benign |
Het |
| Trbv3 |
A |
T |
6: 41,025,576 (GRCm39) |
K55N |
probably benign |
Het |
| Trio |
A |
G |
15: 27,773,021 (GRCm39) |
L1881P |
probably damaging |
Het |
| Unc13a |
G |
A |
8: 72,104,917 (GRCm39) |
R782W |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,925,126 (GRCm39) |
M117K |
|
Het |
| Zfp655 |
T |
A |
5: 145,181,380 (GRCm39) |
C413S |
probably damaging |
Het |
|
| Other mutations in Igtp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01138:Igtp
|
APN |
11 |
58,096,970 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03326:Igtp
|
APN |
11 |
58,097,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0281:Igtp
|
UTSW |
11 |
58,096,880 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2762:Igtp
|
UTSW |
11 |
58,096,891 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3426:Igtp
|
UTSW |
11 |
58,097,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3427:Igtp
|
UTSW |
11 |
58,097,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3428:Igtp
|
UTSW |
11 |
58,097,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4484:Igtp
|
UTSW |
11 |
58,097,824 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4588:Igtp
|
UTSW |
11 |
58,097,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5299:Igtp
|
UTSW |
11 |
58,097,959 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5652:Igtp
|
UTSW |
11 |
58,097,455 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5662:Igtp
|
UTSW |
11 |
58,097,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:Igtp
|
UTSW |
11 |
58,097,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Igtp
|
UTSW |
11 |
58,097,654 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7738:Igtp
|
UTSW |
11 |
58,097,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8920:Igtp
|
UTSW |
11 |
58,096,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8986:Igtp
|
UTSW |
11 |
58,096,947 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9103:Igtp
|
UTSW |
11 |
58,097,726 (GRCm39) |
missense |
|
|
|
R9180:Igtp
|
UTSW |
11 |
58,098,091 (GRCm39) |
nonsense |
probably null |
|
|
R9375:Igtp
|
UTSW |
11 |
58,097,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Igtp
|
UTSW |
11 |
58,097,800 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1186:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1186:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1186:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1187:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1188:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1188:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1189:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1189:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1190:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1190:Igtp
|
UTSW |
11 |
58,097,416 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1190:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1190:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1191:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1192:Igtp
|
UTSW |
11 |
58,097,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Igtp
|
UTSW |
11 |
58,097,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1192:Igtp
|
UTSW |
11 |
58,097,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTGGTAAGGCGGTGACAG -3'
(R):5'- ATCCTCTGCATGGTTATGGC -3'
Sequencing Primer
(F):5'- GCGGTGACAGAGGGAAATTTAC -3'
(R):5'- GGCCAGCTTCACATGATTTGAGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation