Incidental Mutation 'R2099:Gbp4'
ID |
233232 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp4
|
Ensembl Gene |
ENSMUSG00000079363 |
Gene Name |
guanylate binding protein 4 |
Synonyms |
Mpa2, Mpa-2, Mag-2 |
MMRRC Submission |
040103-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2099 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
105263633-105287452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 105268947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Tryptophan
at position 402
(L402W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031235]
[ENSMUST00000100961]
[ENSMUST00000100962]
[ENSMUST00000196204]
[ENSMUST00000196677]
[ENSMUST00000197799]
[ENSMUST00000199629]
|
AlphaFold |
A4UUI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031235
|
SMART Domains |
Protein: ENSMUSP00000031235 Gene: ENSMUSG00000034438
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
213 |
5.4e-91 |
PFAM |
Pfam:GBP_C
|
206 |
493 |
1e-115 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100961
|
SMART Domains |
Protein: ENSMUSP00000098521 Gene: ENSMUSG00000029298
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
279 |
3.8e-124 |
PFAM |
Pfam:GBP_C
|
281 |
575 |
4.5e-115 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100962
AA Change: L402W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000098522 Gene: ENSMUSG00000079363 AA Change: L402W
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
287 |
4.2e-91 |
PFAM |
Pfam:GBP_C
|
289 |
583 |
4.4e-117 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196204
|
SMART Domains |
Protein: ENSMUSP00000142528 Gene: ENSMUSG00000079363
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
76 |
1e-19 |
PFAM |
low complexity region
|
82 |
103 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196677
|
SMART Domains |
Protein: ENSMUSP00000142795 Gene: ENSMUSG00000079363
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
1 |
149 |
3e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197799
|
SMART Domains |
Protein: ENSMUSP00000142493 Gene: ENSMUSG00000079363
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
184 |
3.3e-59 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199629
|
SMART Domains |
Protein: ENSMUSP00000143689 Gene: ENSMUSG00000079363
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
1 |
127 |
1.5e-43 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
A |
17: 45,817,820 (GRCm39) |
R14Q |
unknown |
Het |
Aga |
C |
A |
8: 53,974,166 (GRCm39) |
Y286* |
probably null |
Het |
Anks1 |
T |
C |
17: 28,197,465 (GRCm39) |
|
probably null |
Het |
Arih2 |
A |
T |
9: 108,493,937 (GRCm39) |
F159I |
probably damaging |
Het |
Asxl1 |
A |
T |
2: 153,194,187 (GRCm39) |
M46L |
possibly damaging |
Het |
Atp23 |
G |
T |
10: 126,727,595 (GRCm39) |
|
probably null |
Het |
Carmil1 |
T |
A |
13: 24,357,650 (GRCm39) |
L66F |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Cramp1 |
A |
G |
17: 25,192,059 (GRCm39) |
V1027A |
probably benign |
Het |
Cx3cr1 |
G |
A |
9: 119,881,339 (GRCm39) |
A21V |
probably benign |
Het |
Dcxr |
A |
G |
11: 120,616,403 (GRCm39) |
F221S |
probably damaging |
Het |
Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
Dnah2 |
T |
C |
11: 69,384,063 (GRCm39) |
D1051G |
probably damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,768,429 (GRCm39) |
E958G |
possibly damaging |
Het |
Eif3a |
C |
A |
19: 60,752,551 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,388,066 (GRCm39) |
D678G |
probably damaging |
Het |
Fpr3 |
G |
T |
17: 18,191,443 (GRCm39) |
R238L |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,342,488 (GRCm39) |
S1594G |
probably benign |
Het |
Gdpd5 |
T |
A |
7: 99,097,696 (GRCm39) |
L164Q |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,487,616 (GRCm39) |
|
probably null |
Het |
Kcp |
G |
T |
6: 29,496,164 (GRCm39) |
C723* |
probably null |
Het |
Klhl18 |
A |
G |
9: 110,284,486 (GRCm39) |
F2L |
probably damaging |
Het |
Lepr |
T |
A |
4: 101,630,185 (GRCm39) |
D633E |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,186,732 (GRCm39) |
I79V |
probably benign |
Het |
Mcrs1 |
A |
G |
15: 99,147,827 (GRCm39) |
S27P |
probably benign |
Het |
Mmp3 |
A |
G |
9: 7,453,672 (GRCm39) |
D431G |
probably benign |
Het |
Mtor |
T |
A |
4: 148,634,649 (GRCm39) |
Y2423* |
probably null |
Het |
Ndc80 |
A |
T |
17: 71,811,773 (GRCm39) |
D484E |
probably benign |
Het |
Ndufb8 |
T |
A |
19: 44,543,749 (GRCm39) |
|
probably benign |
Het |
Nmur2 |
A |
T |
11: 55,931,589 (GRCm39) |
S41T |
probably benign |
Het |
Notch2 |
T |
C |
3: 98,022,637 (GRCm39) |
C819R |
possibly damaging |
Het |
Or10d3 |
A |
G |
9: 39,461,963 (GRCm39) |
V68A |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,177 (GRCm39) |
I298T |
probably benign |
Het |
Or6c35 |
A |
T |
10: 129,169,152 (GRCm39) |
N134I |
probably damaging |
Het |
Pheta1 |
C |
T |
5: 121,991,349 (GRCm39) |
P237L |
possibly damaging |
Het |
Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
Samd7 |
T |
C |
3: 30,810,709 (GRCm39) |
V242A |
probably benign |
Het |
Sde2 |
T |
C |
1: 180,693,713 (GRCm39) |
L401P |
probably damaging |
Het |
Slc20a1 |
A |
G |
2: 129,049,758 (GRCm39) |
D340G |
probably benign |
Het |
Slc2a5 |
T |
A |
4: 150,227,634 (GRCm39) |
Y484* |
probably null |
Het |
Spata31d1a |
A |
G |
13: 59,853,885 (GRCm39) |
L27P |
probably damaging |
Het |
Sqstm1 |
T |
C |
11: 50,093,811 (GRCm39) |
T269A |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,026,747 (GRCm39) |
V3525A |
probably benign |
Het |
Tctn1 |
G |
A |
5: 122,380,772 (GRCm39) |
P512L |
probably damaging |
Het |
Tlr1 |
A |
G |
5: 65,082,411 (GRCm39) |
F722S |
probably damaging |
Het |
Treh |
A |
G |
9: 44,595,943 (GRCm39) |
Y376C |
probably damaging |
Het |
Trim47 |
T |
C |
11: 115,997,170 (GRCm39) |
N529S |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,719,049 (GRCm39) |
V184A |
possibly damaging |
Het |
Tyrp1 |
T |
A |
4: 80,753,616 (GRCm39) |
N102K |
possibly damaging |
Het |
Uspl1 |
T |
A |
5: 149,151,568 (GRCm39) |
S724T |
probably damaging |
Het |
Vmn2r2 |
C |
A |
3: 64,024,474 (GRCm39) |
K702N |
probably damaging |
Het |
Zfp267 |
C |
T |
3: 36,218,361 (GRCm39) |
T128I |
possibly damaging |
Het |
|
Other mutations in Gbp4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01307:Gbp4
|
APN |
5 |
105,284,887 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
IGL01834:Gbp4
|
APN |
5 |
105,273,468 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02100:Gbp4
|
APN |
5 |
105,269,941 (GRCm39) |
unclassified |
probably benign |
|
IGL02119:Gbp4
|
APN |
5 |
105,268,908 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02364:Gbp4
|
APN |
5 |
105,284,740 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03026:Gbp4
|
APN |
5 |
105,267,866 (GRCm39) |
missense |
possibly damaging |
0.88 |
PIT4651001:Gbp4
|
UTSW |
5 |
105,266,289 (GRCm39) |
missense |
probably benign |
0.08 |
R0147:Gbp4
|
UTSW |
5 |
105,267,362 (GRCm39) |
missense |
probably benign |
0.17 |
R0148:Gbp4
|
UTSW |
5 |
105,267,362 (GRCm39) |
missense |
probably benign |
0.17 |
R0413:Gbp4
|
UTSW |
5 |
105,268,972 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0415:Gbp4
|
UTSW |
5 |
105,268,972 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0478:Gbp4
|
UTSW |
5 |
105,267,299 (GRCm39) |
missense |
probably benign |
0.01 |
R0546:Gbp4
|
UTSW |
5 |
105,268,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R0638:Gbp4
|
UTSW |
5 |
105,269,706 (GRCm39) |
missense |
probably damaging |
0.98 |
R1528:Gbp4
|
UTSW |
5 |
105,269,658 (GRCm39) |
splice site |
probably null |
|
R1541:Gbp4
|
UTSW |
5 |
105,266,275 (GRCm39) |
missense |
probably benign |
|
R2112:Gbp4
|
UTSW |
5 |
105,283,042 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2994:Gbp4
|
UTSW |
5 |
105,284,886 (GRCm39) |
start codon destroyed |
probably null |
0.86 |
R4021:Gbp4
|
UTSW |
5 |
105,268,789 (GRCm39) |
missense |
probably damaging |
0.96 |
R4258:Gbp4
|
UTSW |
5 |
105,284,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R4489:Gbp4
|
UTSW |
5 |
105,269,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R5164:Gbp4
|
UTSW |
5 |
105,284,743 (GRCm39) |
nonsense |
probably null |
|
R5195:Gbp4
|
UTSW |
5 |
105,267,398 (GRCm39) |
missense |
probably benign |
0.00 |
R5406:Gbp4
|
UTSW |
5 |
105,267,387 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5550:Gbp4
|
UTSW |
5 |
105,269,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R5701:Gbp4
|
UTSW |
5 |
105,266,265 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5814:Gbp4
|
UTSW |
5 |
105,267,785 (GRCm39) |
missense |
probably benign |
0.27 |
R6128:Gbp4
|
UTSW |
5 |
105,283,030 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6307:Gbp4
|
UTSW |
5 |
105,270,975 (GRCm39) |
nonsense |
probably null |
|
R6513:Gbp4
|
UTSW |
5 |
105,270,986 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6870:Gbp4
|
UTSW |
5 |
105,273,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R6938:Gbp4
|
UTSW |
5 |
105,282,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R7063:Gbp4
|
UTSW |
5 |
105,266,314 (GRCm39) |
missense |
probably damaging |
0.96 |
R7124:Gbp4
|
UTSW |
5 |
105,267,825 (GRCm39) |
missense |
possibly damaging |
0.45 |
R7457:Gbp4
|
UTSW |
5 |
105,267,419 (GRCm39) |
missense |
probably damaging |
0.98 |
R7615:Gbp4
|
UTSW |
5 |
105,270,848 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7877:Gbp4
|
UTSW |
5 |
105,266,161 (GRCm39) |
missense |
probably benign |
0.34 |
R7905:Gbp4
|
UTSW |
5 |
105,268,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R8274:Gbp4
|
UTSW |
5 |
105,267,338 (GRCm39) |
missense |
probably benign |
0.01 |
R8377:Gbp4
|
UTSW |
5 |
105,266,328 (GRCm39) |
missense |
probably benign |
0.02 |
R8414:Gbp4
|
UTSW |
5 |
105,284,703 (GRCm39) |
missense |
probably benign |
0.05 |
R8423:Gbp4
|
UTSW |
5 |
105,267,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R8979:Gbp4
|
UTSW |
5 |
105,267,248 (GRCm39) |
missense |
probably benign |
0.00 |
R9485:Gbp4
|
UTSW |
5 |
105,269,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R9579:Gbp4
|
UTSW |
5 |
105,270,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R9598:Gbp4
|
UTSW |
5 |
105,284,740 (GRCm39) |
missense |
probably damaging |
1.00 |
S24628:Gbp4
|
UTSW |
5 |
105,268,972 (GRCm39) |
missense |
possibly damaging |
0.85 |
X0067:Gbp4
|
UTSW |
5 |
105,273,491 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1088:Gbp4
|
UTSW |
5 |
105,268,863 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Gbp4
|
UTSW |
5 |
105,273,001 (GRCm39) |
missense |
probably null |
0.89 |
Z1177:Gbp4
|
UTSW |
5 |
105,267,315 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATATTCACCCCATGCCCAGC -3'
(R):5'- TTTGAGCACCCAAGTTCAGTT -3'
Sequencing Primer
(F):5'- AATGTTCCTGGGTCTTTATCTTGTC -3'
(R):5'- GAGCACCCAAGTTCAGTTATTAGC -3'
|
Posted On |
2014-09-18 |