Incidental Mutation 'R8407:Glmn'
| ID |
652463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glmn
|
| Ensembl Gene |
ENSMUSG00000029276 |
| Gene Name |
glomulin, FKBP associated protein |
| Synonyms |
9330160J16Rik, Fap68, Fap48 |
| MMRRC Submission |
067814-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
107696833-107745754 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107718057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 287
(S287P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078021]
[ENSMUST00000082121]
[ENSMUST00000100949]
[ENSMUST00000124546]
|
| AlphaFold |
Q8BZM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078021
AA Change: S287P
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276
AA Change: S287P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kinetochor_Ybp2
|
1 |
563 |
5.6e-101 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082121
AA Change: S287P
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276
AA Change: S287P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kinetochor_Ybp2
|
1 |
563 |
3.5e-99 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100949
AA Change: S287P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276
AA Change: S287P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kinetochor_Ybp2
|
1 |
404 |
1.1e-63 |
PFAM |
|
Pfam:Kinetochor_Ybp2
|
402 |
499 |
1.5e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124546
|
| SMART Domains |
Protein: ENSMUSP00000122129
Gene: ENSMUSG00000029276
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kinetochor_Ybp2
|
1 |
95 |
6e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143074
|
| SMART Domains |
Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit complete embryonic lethality during organogenesis associated with growth retardation, delayed neural tube closure, incomplete embryo turning, pericardial effusion, disorganized yolk sac vascular plexus and head mesenchyme hypocellularity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
T |
C |
11: 100,384,897 (GRCm39) |
I629V |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Arhgef12 |
C |
T |
9: 42,937,475 (GRCm39) |
|
probably null |
Het |
| BC048562 |
T |
A |
9: 108,315,631 (GRCm39) |
S12R |
possibly damaging |
Het |
| Calhm2 |
G |
A |
19: 47,098,755 (GRCm39) |
Q310* |
probably null |
Het |
| Celsr3 |
A |
G |
9: 108,706,256 (GRCm39) |
E913G |
probably damaging |
Het |
| Cep68 |
T |
C |
11: 20,190,446 (GRCm39) |
S189G |
possibly damaging |
Het |
| Cilp |
C |
A |
9: 65,181,898 (GRCm39) |
P336T |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,033,154 (GRCm39) |
S288P |
probably benign |
Het |
| Cst13 |
T |
C |
2: 148,665,124 (GRCm39) |
S40P |
probably damaging |
Het |
| Cyp4f37 |
A |
T |
17: 32,853,158 (GRCm39) |
D374V |
probably damaging |
Het |
| Ddit3 |
A |
G |
10: 127,131,318 (GRCm39) |
T37A |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,350,104 (GRCm39) |
N2343S |
probably benign |
Het |
| Emp3 |
G |
A |
7: 45,569,445 (GRCm39) |
P32L |
probably damaging |
Het |
| Esyt1 |
G |
T |
10: 128,347,796 (GRCm39) |
L965M |
probably damaging |
Het |
| Fbxw28 |
T |
A |
9: 109,155,269 (GRCm39) |
I406L |
probably benign |
Het |
| Fgf10 |
A |
G |
13: 118,851,938 (GRCm39) |
T7A |
possibly damaging |
Het |
| Frs3 |
A |
T |
17: 48,009,552 (GRCm39) |
D11V |
probably damaging |
Het |
| Glyctk |
C |
T |
9: 106,033,141 (GRCm39) |
A291T |
probably benign |
Het |
| H2bc12 |
G |
T |
13: 22,220,217 (GRCm39) |
G54V |
probably damaging |
Het |
| Ibtk |
A |
T |
9: 85,603,119 (GRCm39) |
F629I |
possibly damaging |
Het |
| Kcnh8 |
C |
A |
17: 53,212,101 (GRCm39) |
A633E |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,488 (GRCm39) |
N929S |
probably benign |
Het |
| Ldlrap1 |
T |
C |
4: 134,484,736 (GRCm39) |
K86R |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,763 (GRCm39) |
K206R |
probably benign |
Het |
| Lmod1 |
C |
A |
1: 135,292,734 (GRCm39) |
P530T |
possibly damaging |
Het |
| Lnp1 |
A |
T |
16: 56,748,251 (GRCm39) |
S14T |
probably benign |
Het |
| Map3k6 |
T |
A |
4: 132,974,904 (GRCm39) |
Y646N |
possibly damaging |
Het |
| Mapk14 |
G |
A |
17: 28,963,983 (GRCm39) |
V290I |
probably benign |
Het |
| Mrpl22 |
C |
A |
11: 58,066,156 (GRCm39) |
Y83* |
probably null |
Het |
| Myh6 |
T |
C |
14: 55,201,388 (GRCm39) |
N104D |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,554,683 (GRCm39) |
M903L |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,094,047 (GRCm39) |
Q763* |
probably null |
Het |
| Or5w19 |
A |
C |
2: 87,698,437 (GRCm39) |
Y34S |
probably damaging |
Het |
| Plin1 |
T |
C |
7: 79,373,051 (GRCm39) |
D306G |
probably benign |
Het |
| Ppp1r12a |
T |
A |
10: 108,076,042 (GRCm39) |
|
probably null |
Het |
| Prelid1 |
T |
A |
13: 55,470,672 (GRCm39) |
H33Q |
probably damaging |
Het |
| Prkcz |
C |
T |
4: 155,352,673 (GRCm39) |
A485T |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,662,057 (GRCm39) |
E1169G |
probably null |
Het |
| Rps19 |
C |
A |
7: 24,588,517 (GRCm39) |
T181K |
unknown |
Het |
| Skic2 |
G |
A |
17: 35,060,103 (GRCm39) |
A889V |
probably benign |
Het |
| Slc22a3 |
A |
C |
17: 12,640,368 (GRCm39) |
C538G |
probably benign |
Het |
| Slc2a10 |
T |
A |
2: 165,356,787 (GRCm39) |
F149Y |
possibly damaging |
Het |
| Smarcal1 |
A |
G |
1: 72,640,554 (GRCm39) |
I516M |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,318,190 (GRCm39) |
W601R |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,143,589 (GRCm39) |
S369P |
probably benign |
Het |
| Tex2 |
C |
T |
11: 106,459,221 (GRCm39) |
E70K |
probably damaging |
Het |
| Ticam2 |
A |
G |
18: 46,693,590 (GRCm39) |
S166P |
probably damaging |
Het |
| Trpv5 |
A |
G |
6: 41,652,272 (GRCm39) |
S138P |
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,798,741 (GRCm39) |
V665I |
probably benign |
Het |
| Vmn2r81 |
T |
C |
10: 79,104,028 (GRCm39) |
L217P |
possibly damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,669,101 (GRCm39) |
V608A |
probably benign |
Het |
| Zfp957 |
A |
G |
14: 79,451,352 (GRCm39) |
V149A |
possibly damaging |
Het |
|
| Other mutations in Glmn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Glmn
|
APN |
5 |
107,718,005 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL00925:Glmn
|
APN |
5 |
107,705,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01092:Glmn
|
APN |
5 |
107,726,378 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02503:Glmn
|
APN |
5 |
107,710,644 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02725:Glmn
|
APN |
5 |
107,723,155 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03116:Glmn
|
APN |
5 |
107,698,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mauna_kea
|
UTSW |
5 |
107,741,746 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
pillow
|
UTSW |
5 |
107,696,941 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0078:Glmn
|
UTSW |
5 |
107,705,836 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0115:Glmn
|
UTSW |
5 |
107,708,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0481:Glmn
|
UTSW |
5 |
107,708,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1895:Glmn
|
UTSW |
5 |
107,718,110 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1954:Glmn
|
UTSW |
5 |
107,720,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Glmn
|
UTSW |
5 |
107,709,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Glmn
|
UTSW |
5 |
107,726,321 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3962:Glmn
|
UTSW |
5 |
107,708,911 (GRCm39) |
intron |
probably benign |
|
|
R4296:Glmn
|
UTSW |
5 |
107,706,368 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4591:Glmn
|
UTSW |
5 |
107,708,917 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4679:Glmn
|
UTSW |
5 |
107,708,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Glmn
|
UTSW |
5 |
107,705,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5140:Glmn
|
UTSW |
5 |
107,718,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5215:Glmn
|
UTSW |
5 |
107,709,752 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6035:Glmn
|
UTSW |
5 |
107,741,746 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6035:Glmn
|
UTSW |
5 |
107,741,746 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6116:Glmn
|
UTSW |
5 |
107,705,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6671:Glmn
|
UTSW |
5 |
107,697,280 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7748:Glmn
|
UTSW |
5 |
107,710,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7789:Glmn
|
UTSW |
5 |
107,696,941 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8725:Glmn
|
UTSW |
5 |
107,718,152 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8727:Glmn
|
UTSW |
5 |
107,718,152 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9535:Glmn
|
UTSW |
5 |
107,706,368 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9612:Glmn
|
UTSW |
5 |
107,741,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCTGATGTACTCCCATGC -3'
(R):5'- GTGATGTATGCCAACAGCTTCC -3'
Sequencing Primer
(F):5'- TGAAGCCACACACTTACTTGATGTC -3'
(R):5'- CCTTTTTAAAAACCCATTTCACAGGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation