Incidental Mutation 'R0691:Garnl3'
| ID |
63949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garnl3
|
| Ensembl Gene |
ENSMUSG00000038860 |
| Gene Name |
GTPase activating RANGAP domain-like 3 |
| Synonyms |
|
| MMRRC Submission |
038876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R0691 (G1)
|
| Quality Score |
136 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32975919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 16
(F16L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049618]
[ENSMUST00000102810]
[ENSMUST00000124000]
[ENSMUST00000127509]
[ENSMUST00000133135]
[ENSMUST00000137381]
|
| AlphaFold |
Q3V0G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049618
AA Change: F20L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: F20L
| 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 |
probably damaging
Transcript: ENSMUST00000102810
AA Change: F16L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: F16L
| 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: ENSMUST00000124000
AA Change: F101L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123601
Gene: ENSMUSG00000038860
AA Change: F101L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127509
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133135
AA Change: F61L
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135296
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137381
AA Change: F61L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148043
|
| Meta Mutation Damage Score |
0.1021 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,584,979 (GRCm39) |
D865G |
possibly damaging |
Het |
| Acy1 |
A |
T |
9: 106,313,070 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
A |
T |
14: 56,010,104 (GRCm39) |
|
probably benign |
Het |
| Anpep |
T |
G |
7: 79,489,047 (GRCm39) |
D347A |
probably damaging |
Het |
| Arhgap28 |
C |
T |
17: 68,203,159 (GRCm39) |
|
probably null |
Het |
| Ccdc32 |
A |
G |
2: 118,857,610 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,972,400 (GRCm39) |
T1401A |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,319,939 (GRCm39) |
Y958H |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,923,066 (GRCm39) |
E137G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,450,890 (GRCm39) |
D1399G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,145,908 (GRCm39) |
T978A |
possibly damaging |
Het |
| Col10a1 |
A |
G |
10: 34,271,692 (GRCm39) |
T555A |
possibly damaging |
Het |
| Crybg3 |
A |
C |
16: 59,385,574 (GRCm39) |
|
probably null |
Het |
| Cts7 |
A |
G |
13: 61,503,548 (GRCm39) |
F139L |
probably damaging |
Het |
| Dera |
T |
C |
6: 137,773,745 (GRCm39) |
|
probably benign |
Het |
| Dgka |
A |
G |
10: 128,559,129 (GRCm39) |
|
probably benign |
Het |
| Dhrs7 |
T |
A |
12: 72,699,125 (GRCm39) |
I286F |
probably damaging |
Het |
| Dtwd2 |
A |
G |
18: 49,861,424 (GRCm39) |
|
probably benign |
Het |
| Fermt1 |
A |
G |
2: 132,748,653 (GRCm39) |
S657P |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,825,727 (GRCm39) |
D351G |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,890,810 (GRCm38) |
V564A |
probably benign |
Het |
| Gck |
T |
C |
11: 5,856,691 (GRCm39) |
R191G |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,952,941 (GRCm39) |
|
probably benign |
Het |
| Ifna2 |
A |
C |
4: 88,601,895 (GRCm39) |
L41R |
probably damaging |
Het |
| Krt33a |
T |
G |
11: 99,903,541 (GRCm39) |
E197A |
probably damaging |
Het |
| Lce1e |
G |
A |
3: 92,615,063 (GRCm39) |
R95C |
unknown |
Het |
| Lct |
G |
T |
1: 128,235,971 (GRCm39) |
S345R |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,281,724 (GRCm39) |
N3882K |
probably benign |
Het |
| Mcc |
G |
T |
18: 44,578,927 (GRCm39) |
T652K |
possibly damaging |
Het |
| Mier1 |
A |
G |
4: 102,996,699 (GRCm39) |
S109G |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,082,237 (GRCm39) |
N469S |
probably damaging |
Het |
| Or1e23 |
C |
A |
11: 73,407,670 (GRCm39) |
M118I |
possibly damaging |
Het |
| Or6c214 |
G |
A |
10: 129,591,271 (GRCm39) |
T16I |
probably damaging |
Het |
| Piwil1 |
G |
T |
5: 128,820,371 (GRCm39) |
R256M |
probably null |
Het |
| Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,685,746 (GRCm39) |
|
probably null |
Het |
| Sec22b |
A |
G |
3: 97,819,990 (GRCm39) |
E94G |
probably damaging |
Het |
| Snrnp70 |
T |
C |
7: 45,036,669 (GRCm39) |
R131G |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,848,199 (GRCm39) |
S1310P |
possibly damaging |
Het |
| Spint1 |
A |
G |
2: 119,076,948 (GRCm39) |
E344G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,302 (GRCm39) |
Q141* |
probably null |
Het |
| Tecta |
A |
T |
9: 42,295,637 (GRCm39) |
L286Q |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,104,301 (GRCm39) |
K198* |
probably null |
Het |
| Tk2 |
A |
G |
8: 104,957,824 (GRCm39) |
V174A |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,691,872 (GRCm39) |
K165E |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,151,217 (GRCm39) |
R1884Q |
probably damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,844 (GRCm39) |
Y755H |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,855,592 (GRCm39) |
H296Q |
probably damaging |
Het |
| Zar1l |
A |
T |
5: 150,436,407 (GRCm39) |
V223D |
probably damaging |
Het |
|
| Other mutations in Garnl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Garnl3
|
APN |
2 |
32,896,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01601:Garnl3
|
APN |
2 |
32,887,701 (GRCm39) |
nonsense |
probably null |
|
|
IGL01981:Garnl3
|
APN |
2 |
32,887,741 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02209:Garnl3
|
APN |
2 |
32,975,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02434:Garnl3
|
APN |
2 |
32,944,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02512:Garnl3
|
APN |
2 |
32,921,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Garnl3
|
APN |
2 |
32,936,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Garnl3
|
UTSW |
2 |
32,880,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0123:Garnl3
|
UTSW |
2 |
32,896,816 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0134:Garnl3
|
UTSW |
2 |
32,896,816 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0225:Garnl3
|
UTSW |
2 |
32,896,816 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0551:Garnl3
|
UTSW |
2 |
32,906,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0693:Garnl3
|
UTSW |
2 |
32,975,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Garnl3
|
UTSW |
2 |
32,880,654 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1350:Garnl3
|
UTSW |
2 |
32,942,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Garnl3
|
UTSW |
2 |
32,887,675 (GRCm39) |
nonsense |
probably null |
|
|
R1791:Garnl3
|
UTSW |
2 |
32,924,139 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1938:Garnl3
|
UTSW |
2 |
32,895,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2100:Garnl3
|
UTSW |
2 |
32,936,657 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2316:Garnl3
|
UTSW |
2 |
32,895,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2353:Garnl3
|
UTSW |
2 |
32,954,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Garnl3
|
UTSW |
2 |
32,924,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3839:Garnl3
|
UTSW |
2 |
32,879,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3847:Garnl3
|
UTSW |
2 |
32,882,240 (GRCm39) |
missense |
probably benign |
|
|
R4871:Garnl3
|
UTSW |
2 |
32,977,100 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R5682:Garnl3
|
UTSW |
2 |
32,944,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5811:Garnl3
|
UTSW |
2 |
32,896,911 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6267:Garnl3
|
UTSW |
2 |
32,994,892 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6502:Garnl3
|
UTSW |
2 |
32,896,833 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6532:Garnl3
|
UTSW |
2 |
32,921,131 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6639:Garnl3
|
UTSW |
2 |
32,879,537 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6763:Garnl3
|
UTSW |
2 |
32,944,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Garnl3
|
UTSW |
2 |
32,892,785 (GRCm39) |
splice site |
probably null |
|
|
R6913:Garnl3
|
UTSW |
2 |
32,876,841 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7002:Garnl3
|
UTSW |
2 |
32,944,205 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7168:Garnl3
|
UTSW |
2 |
32,885,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Garnl3
|
UTSW |
2 |
32,924,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7746:Garnl3
|
UTSW |
2 |
32,882,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7919:Garnl3
|
UTSW |
2 |
32,936,611 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8079:Garnl3
|
UTSW |
2 |
32,908,511 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8087:Garnl3
|
UTSW |
2 |
32,935,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8123:Garnl3
|
UTSW |
2 |
32,994,950 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8170:Garnl3
|
UTSW |
2 |
32,905,235 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8347:Garnl3
|
UTSW |
2 |
32,975,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Garnl3
|
UTSW |
2 |
32,942,158 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8679:Garnl3
|
UTSW |
2 |
32,916,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Garnl3
|
UTSW |
2 |
32,895,241 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9081:Garnl3
|
UTSW |
2 |
32,896,920 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9183:Garnl3
|
UTSW |
2 |
32,895,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9213:Garnl3
|
UTSW |
2 |
32,895,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9219:Garnl3
|
UTSW |
2 |
32,975,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Garnl3
|
UTSW |
2 |
32,893,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Garnl3
|
UTSW |
2 |
32,912,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Garnl3
|
UTSW |
2 |
32,916,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Garnl3
|
UTSW |
2 |
32,895,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCATAACCTTTCAGCATCACTGAC -3'
(R):5'- CAAACCTGTTTCATAGCAGCCGTTTC -3'
Sequencing Primer
(F):5'- TCAGCATCACTGACTTAAATTAAACC -3'
(R):5'- GCCGTTTCTTtttctttttctctttc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation