Incidental Mutation 'R8347:Garnl3'
| ID |
645272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garnl3
|
| Ensembl Gene |
ENSMUSG00000038860 |
| Gene Name |
GTPase activating RANGAP domain-like 3 |
| Synonyms |
|
| MMRRC Submission |
067867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R8347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32986224-33131654 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33085891 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 66
(Y66C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122576
(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: Y25C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: Y25C
| 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: Y21C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: Y21C
| 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 |
probably damaging
Transcript: ENSMUST00000124000
AA Change: Y106C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123601
Gene: ENSMUSG00000038860
AA Change: Y106C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127509
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133135
AA Change: Y66C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137381
AA Change: Y66C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700014D04Rik |
T |
A |
13: 59,742,236 |
D590V |
possibly damaging |
Het |
| 1700123K08Rik |
T |
A |
5: 138,562,891 |
I170L |
probably benign |
Het |
| Adamts15 |
C |
T |
9: 30,902,550 |
R773Q |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,747,065 |
L249P |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,742,367 |
F499L |
probably damaging |
Het |
| Clec12b |
C |
T |
6: 129,380,487 |
|
probably null |
Het |
| Col23a1 |
G |
A |
11: 51,571,256 |
G373D |
probably damaging |
Het |
| Cse1l |
C |
T |
2: 166,927,585 |
T304I |
possibly damaging |
Het |
| D6Wsu163e |
T |
A |
6: 126,955,288 |
L330* |
probably null |
Het |
| Dbi |
A |
C |
1: 120,120,820 |
L32R |
possibly damaging |
Het |
| Dennd2c |
A |
G |
3: 103,157,709 |
Y716C |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,236,666 |
M379I |
possibly damaging |
Het |
| Dpys |
T |
C |
15: 39,857,313 |
D17G |
probably benign |
Het |
| Dync2h1 |
C |
T |
9: 7,116,578 |
S2319N |
possibly damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,859,983 |
K457E |
probably damaging |
Het |
| Efs |
A |
G |
14: 54,919,784 |
C357R |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,878,174 |
W516R |
probably damaging |
Het |
| Folh1 |
T |
A |
7: 86,729,118 |
R529* |
probably null |
Het |
| Fsip2 |
A |
C |
2: 82,987,854 |
I4644L |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,723,525 |
L730P |
probably damaging |
Het |
| Gm19668 |
T |
C |
10: 77,798,387 |
*249W |
probably null |
Het |
| Gm28710 |
G |
A |
5: 16,801,574 |
M96I |
probably benign |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,796,327 |
D54G |
probably benign |
Het |
| Irs2 |
C |
A |
8: 11,008,000 |
S144I |
possibly damaging |
Het |
| Itgb5 |
T |
C |
16: 33,940,678 |
C628R |
probably damaging |
Het |
| Kcnh4 |
A |
T |
11: 100,757,749 |
V43D |
probably damaging |
Het |
| Krtap16-3 |
A |
T |
16: 88,962,619 |
Y69N |
unknown |
Het |
| Lcn12 |
A |
C |
2: 25,492,033 |
D176E |
possibly damaging |
Het |
| Lilr4b |
T |
A |
10: 51,481,754 |
F181L |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,742,597 |
H1251Q |
probably benign |
Het |
| Nppb |
C |
A |
4: 147,986,299 |
L44M |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,472,337 |
V320A |
probably benign |
Het |
| Olfr1272 |
A |
T |
2: 90,281,676 |
W300R |
probably benign |
Het |
| Olfr291 |
C |
T |
7: 84,856,755 |
P131S |
probably damaging |
Het |
| Olfr628 |
A |
G |
7: 103,731,943 |
S6G |
probably benign |
Het |
| Olfr987 |
T |
A |
2: 85,331,703 |
H65L |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,735,408 |
M301V |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,327,065 |
R1530Q |
probably damaging |
Het |
| Pcgf6 |
C |
T |
19: 47,045,838 |
D255N |
possibly damaging |
Het |
| Pgap3 |
TCAGCAGCAGCAGCAGCAG |
TCAGCAGCAGCAGCAG |
11: 98,390,749 |
|
probably benign |
Het |
| Phip |
A |
G |
9: 82,908,763 |
I710T |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,534,903 |
Y108N |
probably damaging |
Het |
| Plat |
G |
T |
8: 22,772,232 |
G91W |
probably damaging |
Het |
| Rint1 |
C |
G |
5: 23,811,772 |
L512V |
probably damaging |
Het |
| Sdad1 |
A |
C |
5: 92,298,229 |
F282L |
probably benign |
Het |
| Sirt5 |
G |
T |
13: 43,380,501 |
A189S |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,111,431 |
T247A |
probably benign |
Het |
| Slc22a6 |
C |
G |
19: 8,621,805 |
R267G |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,213,589 |
K429E |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 100,027,641 |
F721S |
probably benign |
Het |
| St3gal1 |
G |
A |
15: 67,113,662 |
R48C |
probably damaging |
Het |
| Sult2a6 |
A |
G |
7: 14,225,958 |
Y217H |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,009,785 |
N394S |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,104,637 |
Y605* |
probably null |
Het |
| Trank1 |
T |
A |
9: 111,367,249 |
L1447Q |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,112,592 |
L690P |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,582,768 |
T325A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,709,467 |
T34392S |
probably benign |
Het |
| Uncx |
A |
G |
5: 139,546,816 |
E212G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,947,084 |
T4830A |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,412,345 |
T1616N |
|
Het |
| Vars |
C |
T |
17: 35,015,977 |
L1261F |
possibly damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,249,850 |
S205P |
probably damaging |
Het |
| Vmn2r118 |
A |
T |
17: 55,610,423 |
I363K |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,415,630 |
M16K |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 30,262,703 |
T428I |
possibly damaging |
Het |
| Yeats4 |
A |
T |
10: 117,217,469 |
L129Q |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 87,783,156 |
R187G |
probably damaging |
Het |
| Zfp853 |
A |
T |
5: 143,288,947 |
L321Q |
unknown |
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 |
|
R0225: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 |
|
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'- TGACCAAATGACCATAACCTTTCAG -3'
(R):5'- AACCTGTTTCATAGCAGCCG -3'
Sequencing Primer
(F):5'- TGACCATAACCTTTCAGCATCAC -3'
(R):5'- GTTTCATAGCAGCCGTTTCTTTTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation