Incidental Mutation 'R0225:Garnl3'
| ID |
33830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garnl3
|
| Ensembl Gene |
ENSMUSG00000038860 |
| Gene Name |
GTPase activating RANGAP domain-like 3 |
| Synonyms |
|
| MMRRC Submission |
038470-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R0225 (G1)
|
| Quality Score |
86 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32986224-33131654 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33006804 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 608
(T608A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049618]
[ENSMUST00000102810]
[ENSMUST00000137381]
|
| AlphaFold |
Q3V0G7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049618
AA Change: T567A
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: T567A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rap_GAP
|
202 |
383 |
3.4e-73 |
PFAM |
|
Pfam:CNH
|
475 |
780 |
3.5e-67 |
PFAM |
|
low complexity region
|
793 |
804 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102810
AA Change: T563A
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: T563A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rap_GAP
|
198 |
385 |
4.6e-67 |
PFAM |
|
Pfam:CNH
|
471 |
776 |
1.8e-68 |
PFAM |
|
low complexity region
|
789 |
800 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137381
AA Change: T608A
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193214
|
| Meta Mutation Damage Score |
0.7059 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009O20Rik |
G |
A |
18: 38,261,264 |
V505I |
probably benign |
Het |
| 4931417E11Rik |
A |
G |
6: 73,469,419 |
L49P |
possibly damaging |
Het |
| Abca16 |
T |
A |
7: 120,540,155 |
L1470Q |
probably damaging |
Het |
| Abraxas2 |
G |
A |
7: 132,874,855 |
R105Q |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,444,328 |
V70L |
probably benign |
Het |
| AW549877 |
T |
C |
15: 3,986,294 |
K263E |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,512,950 |
I387T |
probably benign |
Het |
| Cd59b |
G |
A |
2: 104,078,941 |
|
probably null |
Het |
| Chn2 |
T |
C |
6: 54,290,451 |
|
probably benign |
Het |
| Col18a1 |
T |
C |
10: 77,088,914 |
S14G |
possibly damaging |
Het |
| Col5a2 |
A |
G |
1: 45,407,035 |
I461T |
probably benign |
Het |
| Dnlz |
T |
C |
2: 26,351,368 |
N116S |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,367,710 |
N736S |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,249,077 |
T267A |
probably benign |
Het |
| Fam234b |
T |
G |
6: 135,217,074 |
S242A |
possibly damaging |
Het |
| Gadd45b |
A |
G |
10: 80,930,347 |
N11S |
probably benign |
Het |
| Gata3 |
T |
C |
2: 9,874,809 |
T119A |
probably benign |
Het |
| Gm10647 |
A |
G |
9: 66,798,495 |
|
probably benign |
Het |
| Gm10936 |
G |
A |
10: 117,248,130 |
|
noncoding transcript |
Het |
| Gzmd |
A |
G |
14: 56,129,704 |
W244R |
probably damaging |
Het |
| Hdac2 |
T |
A |
10: 36,989,184 |
D131E |
probably benign |
Het |
| Hira |
T |
A |
16: 18,956,171 |
F949I |
probably benign |
Het |
| Ighv15-2 |
T |
G |
12: 114,565,037 |
|
probably benign |
Het |
| Il3 |
A |
G |
11: 54,265,680 |
|
probably null |
Het |
| Itgae |
A |
C |
11: 73,111,342 |
M91L |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,641,210 |
E336G |
probably damaging |
Het |
| Kctd21 |
T |
A |
7: 97,348,091 |
I257N |
probably benign |
Het |
| Kif23 |
C |
G |
9: 61,925,694 |
|
probably benign |
Het |
| Lgi3 |
A |
T |
14: 70,532,821 |
I109L |
probably benign |
Het |
| Lhx9 |
A |
T |
1: 138,838,679 |
C124S |
probably damaging |
Het |
| Lipo4 |
A |
G |
19: 33,501,606 |
V278A |
probably benign |
Het |
| Lrch3 |
T |
A |
16: 32,961,754 |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,596,983 |
E142G |
probably damaging |
Het |
| Map9 |
G |
A |
3: 82,359,983 |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,334,454 |
|
probably benign |
Het |
| Mndal |
A |
T |
1: 173,857,513 |
|
probably benign |
Het |
| Mug2 |
G |
T |
6: 122,074,714 |
V952L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,400,437 |
T29S |
probably damaging |
Het |
| Olfr1055 |
T |
C |
2: 86,347,728 |
I13V |
possibly damaging |
Het |
| Olfr307 |
A |
G |
7: 86,335,595 |
I267T |
probably benign |
Het |
| Olfr729 |
T |
G |
14: 50,148,635 |
K80Q |
probably damaging |
Het |
| Olfr933 |
A |
G |
9: 38,976,278 |
I201V |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,805,065 |
D1604E |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,228,243 |
R53G |
probably benign |
Het |
| Prickle1 |
A |
G |
15: 93,510,777 |
L47P |
possibly damaging |
Het |
| Ptar1 |
T |
A |
19: 23,718,095 |
C309S |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 79,104,105 |
S224R |
probably damaging |
Het |
| Siglecg |
G |
A |
7: 43,411,171 |
G325D |
probably damaging |
Het |
| Skor2 |
A |
T |
18: 76,859,098 |
I172F |
unknown |
Het |
| Slc9a1 |
A |
G |
4: 133,420,605 |
K645E |
probably benign |
Het |
| St14 |
T |
A |
9: 31,108,284 |
|
probably null |
Het |
| Tas2r120 |
T |
A |
6: 132,657,589 |
Y211* |
probably null |
Het |
| Tbxa2r |
C |
A |
10: 81,332,900 |
T141K |
possibly damaging |
Het |
| Tpd52l1 |
A |
G |
10: 31,379,256 |
S32P |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,793,130 |
V15368L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,710,124 |
R34173W |
probably damaging |
Het |
| Tyms |
A |
G |
5: 30,063,258 |
I148T |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,933,510 |
Y159* |
probably null |
Het |
| Vmn1r58 |
A |
C |
7: 5,410,866 |
S122A |
probably benign |
Het |
| Vmn2r13 |
C |
A |
5: 109,175,049 |
V125L |
probably benign |
Het |
| Vmn2r92 |
C |
T |
17: 18,167,957 |
A408V |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,887,261 |
I3272T |
probably benign |
Het |
| Wfdc8 |
A |
G |
2: 164,597,185 |
Y426H |
probably benign |
Het |
| Zfp948 |
A |
T |
17: 21,587,294 |
K249N |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,555,073 |
|
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,204,641 |
T321I |
probably damaging |
Het |
|
| Other mutations in Garnl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Garnl3
|
APN |
2 |
33,006,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01601:Garnl3
|
APN |
2 |
32,997,689 (GRCm38) |
nonsense |
probably null |
|
|
IGL01981:Garnl3
|
APN |
2 |
32,997,729 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02209:Garnl3
|
APN |
2 |
33,085,930 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02434:Garnl3
|
APN |
2 |
33,054,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02512:Garnl3
|
APN |
2 |
33,031,138 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02947:Garnl3
|
APN |
2 |
33,046,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Garnl3
|
UTSW |
2 |
32,990,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0123:Garnl3
|
UTSW |
2 |
33,006,804 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0134:Garnl3
|
UTSW |
2 |
33,006,804 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0551:Garnl3
|
UTSW |
2 |
33,016,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0691:Garnl3
|
UTSW |
2 |
33,085,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0693:Garnl3
|
UTSW |
2 |
33,085,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0737:Garnl3
|
UTSW |
2 |
32,990,642 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1350:Garnl3
|
UTSW |
2 |
33,052,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1691:Garnl3
|
UTSW |
2 |
32,997,663 (GRCm38) |
nonsense |
probably null |
|
|
R1791:Garnl3
|
UTSW |
2 |
33,034,127 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1938:Garnl3
|
UTSW |
2 |
33,005,200 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2100:Garnl3
|
UTSW |
2 |
33,046,645 (GRCm38) |
missense |
probably benign |
0.35 |
|
R2316:Garnl3
|
UTSW |
2 |
33,005,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2353:Garnl3
|
UTSW |
2 |
33,064,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3161:Garnl3
|
UTSW |
2 |
33,034,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3839:Garnl3
|
UTSW |
2 |
32,989,546 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3847:Garnl3
|
UTSW |
2 |
32,992,228 (GRCm38) |
missense |
probably benign |
|
|
R4871:Garnl3
|
UTSW |
2 |
33,087,088 (GRCm38) |
start codon destroyed |
probably null |
0.77 |
|
R5682:Garnl3
|
UTSW |
2 |
33,054,173 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5811:Garnl3
|
UTSW |
2 |
33,006,899 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6267:Garnl3
|
UTSW |
2 |
33,104,880 (GRCm38) |
missense |
probably benign |
0.20 |
|
R6502:Garnl3
|
UTSW |
2 |
33,006,821 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6532:Garnl3
|
UTSW |
2 |
33,031,119 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6639:Garnl3
|
UTSW |
2 |
32,989,525 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R6763:Garnl3
|
UTSW |
2 |
33,054,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6866:Garnl3
|
UTSW |
2 |
33,002,773 (GRCm38) |
splice site |
probably null |
|
|
R6913:Garnl3
|
UTSW |
2 |
32,986,829 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7002:Garnl3
|
UTSW |
2 |
33,054,193 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7168:Garnl3
|
UTSW |
2 |
32,995,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7341:Garnl3
|
UTSW |
2 |
33,034,129 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7746:Garnl3
|
UTSW |
2 |
32,992,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7919:Garnl3
|
UTSW |
2 |
33,046,599 (GRCm38) |
missense |
probably benign |
0.38 |
|
R8079:Garnl3
|
UTSW |
2 |
33,018,499 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8087:Garnl3
|
UTSW |
2 |
33,045,536 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8123:Garnl3
|
UTSW |
2 |
33,104,938 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8170:Garnl3
|
UTSW |
2 |
33,015,223 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8347:Garnl3
|
UTSW |
2 |
33,085,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8418:Garnl3
|
UTSW |
2 |
33,052,146 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8679:Garnl3
|
UTSW |
2 |
33,026,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8940:Garnl3
|
UTSW |
2 |
33,005,229 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9081:Garnl3
|
UTSW |
2 |
33,006,908 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9183:Garnl3
|
UTSW |
2 |
33,005,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9213:Garnl3
|
UTSW |
2 |
33,005,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9219:Garnl3
|
UTSW |
2 |
33,085,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9453:Garnl3
|
UTSW |
2 |
33,003,869 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0022:Garnl3
|
UTSW |
2 |
33,022,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0023:Garnl3
|
UTSW |
2 |
33,026,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0024:Garnl3
|
UTSW |
2 |
33,005,179 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGAAACTCCTCGTCCTCAAC -3'
(R):5'- GTCCCAACAGGTCATCTCACTTCG -3'
Sequencing Primer
(F):5'- ctcctccctgacctacacc -3'
(R):5'- AACAGGTCATCTCACTTCGCTATC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation