Incidental Mutation 'R9373:Garin5b'
| ID |
709437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garin5b
|
| Ensembl Gene |
ENSMUSG00000092518 |
| Gene Name |
golgi associated RAB2 interactor family member 5B |
| Synonyms |
Fam71e2, 4930401F20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R9373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4756225-4774301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4760712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 667
(M667V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063324]
[ENSMUST00000163574]
[ENSMUST00000174409]
[ENSMUST00000182048]
[ENSMUST00000182111]
[ENSMUST00000182173]
[ENSMUST00000182738]
[ENSMUST00000183334]
[ENSMUST00000183971]
[ENSMUST00000184143]
|
| AlphaFold |
L7N480 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063324
|
| SMART Domains |
Protein: ENSMUSP00000064988
Gene: ENSMUSG00000051811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX6B
|
21 |
85 |
2.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163574
|
| SMART Domains |
Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: M667V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
93 |
168 |
5.8e-24 |
PFAM |
|
low complexity region
|
277 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
692 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182048
|
| SMART Domains |
Protein: ENSMUSP00000138765
Gene: ENSMUSG00000051811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX6B
|
21 |
85 |
2.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182111
|
| SMART Domains |
Protein: ENSMUSP00000138709
Gene: ENSMUSG00000051811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX6B
|
21 |
85 |
2.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182173
|
| SMART Domains |
Protein: ENSMUSP00000138288
Gene: ENSMUSG00000051811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX6B
|
21 |
74 |
5e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182738
|
| SMART Domains |
Protein: ENSMUSP00000138744
Gene: ENSMUSG00000051811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX6B
|
21 |
74 |
5.9e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183334
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183971
|
| SMART Domains |
Protein: ENSMUSP00000138911
Gene: ENSMUSG00000051811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX6B
|
21 |
75 |
1.7e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184143
|
| SMART Domains |
Protein: ENSMUSP00000139239
Gene: ENSMUSG00000051811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX6B
|
21 |
60 |
2.1e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| 2310003L06Rik |
A |
C |
5: 88,120,668 (GRCm39) |
D475A |
probably benign |
Het |
| Aatk |
T |
C |
11: 119,906,343 (GRCm39) |
M243V |
possibly damaging |
Het |
| Acox1 |
A |
T |
11: 116,065,173 (GRCm39) |
N627K |
possibly damaging |
Het |
| Adal |
A |
G |
2: 120,980,703 (GRCm39) |
Y142C |
probably benign |
Het |
| Agfg2 |
A |
G |
5: 137,662,476 (GRCm39) |
|
probably null |
Het |
| Ajap1 |
C |
T |
4: 153,516,670 (GRCm39) |
A224T |
probably benign |
Het |
| Alg1 |
T |
C |
16: 5,056,990 (GRCm39) |
F234L |
probably benign |
Het |
| Arhgap27 |
G |
T |
11: 103,251,287 (GRCm39) |
A147E |
possibly damaging |
Het |
| C9orf72 |
A |
G |
4: 35,196,985 (GRCm39) |
F360S |
|
Het |
| Cachd1 |
T |
C |
4: 100,832,067 (GRCm39) |
V743A |
possibly damaging |
Het |
| Cc2d2b |
G |
A |
19: 40,784,167 (GRCm39) |
V655I |
unknown |
Het |
| Cd72 |
T |
C |
4: 43,450,141 (GRCm39) |
S256G |
possibly damaging |
Het |
| Celf2 |
G |
T |
2: 6,551,915 (GRCm39) |
N521K |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,672,133 (GRCm39) |
N270Y |
possibly damaging |
Het |
| Clvs2 |
A |
T |
10: 33,404,382 (GRCm39) |
V278E |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,454,718 (GRCm39) |
F677S |
probably damaging |
Het |
| Dnaaf4 |
A |
G |
9: 72,871,462 (GRCm39) |
T241A |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Epdr1 |
T |
C |
13: 19,778,707 (GRCm39) |
N130D |
possibly damaging |
Het |
| Fam184a |
G |
A |
10: 53,566,115 (GRCm39) |
R491W |
probably benign |
Het |
| Foxp2 |
A |
G |
6: 15,377,969 (GRCm39) |
Q160R |
unknown |
Het |
| Fstl5 |
T |
A |
3: 76,555,669 (GRCm39) |
Y515* |
probably null |
Het |
| Helz2 |
G |
T |
2: 180,882,741 (GRCm39) |
N17K |
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,545,038 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
C |
T |
10: 66,932,495 (GRCm39) |
|
probably benign |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Lrrn1 |
A |
C |
6: 107,545,465 (GRCm39) |
Q421P |
possibly damaging |
Het |
| Mapk1 |
A |
G |
16: 16,836,154 (GRCm39) |
I101V |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,918,800 (GRCm39) |
E427G |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,274,999 (GRCm39) |
M433I |
probably damaging |
Het |
| Nelfb |
G |
A |
2: 25,095,218 (GRCm39) |
R324W |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,449,126 (GRCm39) |
I443K |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,449,216 (GRCm39) |
E294G |
probably damaging |
Het |
| Or8b50 |
G |
A |
9: 38,518,142 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,750 (GRCm39) |
V212D |
probably damaging |
Het |
| Or9g3 |
A |
T |
2: 85,590,275 (GRCm39) |
Y148* |
probably null |
Het |
| Parvb |
C |
T |
15: 84,188,100 (GRCm39) |
T281I |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,099,502 (GRCm39) |
T1669A |
probably benign |
Het |
| Runx3 |
A |
G |
4: 134,848,456 (GRCm39) |
T14A |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,261 (GRCm39) |
V1819A |
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,964,435 (GRCm39) |
T260A |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,474,749 (GRCm39) |
R304G |
possibly damaging |
Het |
| Spem1 |
C |
T |
11: 69,712,640 (GRCm39) |
C65Y |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,939,053 (GRCm39) |
V665A |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,930,713 (GRCm39) |
A1772T |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,752,690 (GRCm39) |
V891I |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,259 (GRCm39) |
D761G |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,944,681 (GRCm39) |
S1053G |
probably damaging |
Het |
| Ubap2l |
A |
T |
3: 89,915,587 (GRCm39) |
Y985N |
unknown |
Het |
| Vwc2l |
A |
T |
1: 70,768,218 (GRCm39) |
H94L |
probably damaging |
Het |
| Wdr27 |
G |
A |
17: 15,154,795 (GRCm39) |
H41Y |
probably benign |
Het |
| Zfp7 |
AGTGCGGGAAAGGTTTCCACCTG |
AG |
15: 76,774,798 (GRCm39) |
|
probably benign |
Het |
| Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Garin5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Garin5b
|
APN |
7 |
4,760,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01622:Garin5b
|
APN |
7 |
4,761,722 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01623:Garin5b
|
APN |
7 |
4,761,722 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01944:Garin5b
|
APN |
7 |
4,773,694 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03013:Garin5b
|
APN |
7 |
4,761,632 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03029:Garin5b
|
APN |
7 |
4,760,839 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0153:Garin5b
|
UTSW |
7 |
4,773,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0523:Garin5b
|
UTSW |
7 |
4,762,392 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0981:Garin5b
|
UTSW |
7 |
4,760,588 (GRCm39) |
splice site |
probably null |
|
|
R1428:Garin5b
|
UTSW |
7 |
4,760,687 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1736:Garin5b
|
UTSW |
7 |
4,761,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1993:Garin5b
|
UTSW |
7 |
4,761,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Garin5b
|
UTSW |
7 |
4,762,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Garin5b
|
UTSW |
7 |
4,774,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2270:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2271:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2272:Garin5b
|
UTSW |
7 |
4,761,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4288:Garin5b
|
UTSW |
7 |
4,773,722 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4653:Garin5b
|
UTSW |
7 |
4,761,054 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4812:Garin5b
|
UTSW |
7 |
4,762,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Garin5b
|
UTSW |
7 |
4,760,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4860:Garin5b
|
UTSW |
7 |
4,760,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5037:Garin5b
|
UTSW |
7 |
4,761,575 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5044:Garin5b
|
UTSW |
7 |
4,761,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5491:Garin5b
|
UTSW |
7 |
4,760,925 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5559:Garin5b
|
UTSW |
7 |
4,761,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Garin5b
|
UTSW |
7 |
4,773,385 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6025:Garin5b
|
UTSW |
7 |
4,761,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6038:Garin5b
|
UTSW |
7 |
4,756,594 (GRCm39) |
splice site |
probably null |
|
|
R6038:Garin5b
|
UTSW |
7 |
4,756,594 (GRCm39) |
splice site |
probably null |
|
|
R6164:Garin5b
|
UTSW |
7 |
4,773,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6371:Garin5b
|
UTSW |
7 |
4,762,358 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6470:Garin5b
|
UTSW |
7 |
4,760,850 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6546:Garin5b
|
UTSW |
7 |
4,761,464 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6603:Garin5b
|
UTSW |
7 |
4,761,431 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7037:Garin5b
|
UTSW |
7 |
4,761,584 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7381:Garin5b
|
UTSW |
7 |
4,760,681 (GRCm39) |
missense |
|
|
|
R8743:Garin5b
|
UTSW |
7 |
4,760,814 (GRCm39) |
missense |
|
|
|
R9066:Garin5b
|
UTSW |
7 |
4,773,518 (GRCm39) |
intron |
probably benign |
|
|
R9072:Garin5b
|
UTSW |
7 |
4,762,253 (GRCm39) |
missense |
|
|
|
R9138:Garin5b
|
UTSW |
7 |
4,773,406 (GRCm39) |
missense |
|
|
|
R9352:Garin5b
|
UTSW |
7 |
4,761,605 (GRCm39) |
missense |
|
|
|
R9462:Garin5b
|
UTSW |
7 |
4,761,330 (GRCm39) |
missense |
|
|
|
Z1177:Garin5b
|
UTSW |
7 |
4,760,727 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGTTCACTTTAGTACAGGACCC -3'
(R):5'- ATTAGCGAAACCCAAGAGGC -3'
Sequencing Primer
(F):5'- AGTACAGGACCCTGATTGTTC -3'
(R):5'- CCTTGAAGGGCAGGGAAAAGTTAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation