Incidental Mutation 'IGL01611:Fam20b'
| ID |
92089 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam20b
|
| Ensembl Gene |
ENSMUSG00000033557 |
| Gene Name |
FAM20B, glycosaminoglycan xylosylkinase |
| Synonyms |
C530043G21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01611
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
156506102-156546656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156530035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 133
(V133E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086153]
[ENSMUST00000122424]
|
| AlphaFold |
Q8VCS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086153
AA Change: V133E
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000083322
Gene: ENSMUSG00000033557
AA Change: V133E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:Fam20C
|
188 |
399 |
3.1e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122424
AA Change: V133E
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112534
Gene: ENSMUSG00000033557
AA Change: V133E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:DUF1193
|
187 |
402 |
2e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190878
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality associated with decreased embryo size, multisystem organ hypoplasia, and delayed skeleton, digestive system, eye, liver, and lung development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,954,644 (GRCm39) |
L209S |
possibly damaging |
Het |
| Abcc2 |
G |
T |
19: 43,815,068 (GRCm39) |
V1152F |
probably damaging |
Het |
| Adam9 |
C |
T |
8: 25,457,212 (GRCm39) |
V639I |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,805,989 (GRCm39) |
I388V |
probably benign |
Het |
| Chrm5 |
C |
T |
2: 112,310,651 (GRCm39) |
W155* |
probably null |
Het |
| Chrna9 |
A |
G |
5: 66,128,287 (GRCm39) |
D161G |
probably damaging |
Het |
| Det1 |
A |
G |
7: 78,477,702 (GRCm39) |
V541A |
possibly damaging |
Het |
| Efhc1 |
G |
T |
1: 21,060,911 (GRCm39) |
*649L |
probably null |
Het |
| Ehbp1 |
C |
T |
11: 22,122,883 (GRCm39) |
V146M |
probably damaging |
Het |
| Enam |
A |
C |
5: 88,651,608 (GRCm39) |
D1039A |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,563,130 (GRCm39) |
Q459L |
probably benign |
Het |
| Gapdhs |
C |
T |
7: 30,429,866 (GRCm39) |
|
probably benign |
Het |
| Gm3404 |
T |
A |
5: 146,465,157 (GRCm39) |
V299D |
possibly damaging |
Het |
| Gorasp2 |
C |
A |
2: 70,519,604 (GRCm39) |
H310N |
possibly damaging |
Het |
| Gpr157 |
T |
C |
4: 150,186,094 (GRCm39) |
S219P |
possibly damaging |
Het |
| Gpt2 |
T |
A |
8: 86,246,167 (GRCm39) |
C375* |
probably null |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,748 (GRCm39) |
S274P |
probably damaging |
Het |
| Hmg20b |
C |
T |
10: 81,183,309 (GRCm39) |
V83M |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,944,302 (GRCm39) |
Y400* |
probably null |
Het |
| Ipo9 |
A |
T |
1: 135,314,431 (GRCm39) |
W942R |
possibly damaging |
Het |
| Iqch |
T |
C |
9: 63,403,519 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
T |
C |
15: 99,127,383 (GRCm39) |
L393P |
probably benign |
Het |
| Kcnk12 |
T |
A |
17: 88,104,495 (GRCm39) |
I130L |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,904,434 (GRCm39) |
T205A |
probably damaging |
Het |
| Lpar6 |
G |
T |
14: 73,476,878 (GRCm39) |
A280S |
probably damaging |
Het |
| Mgarp |
A |
T |
3: 51,296,570 (GRCm39) |
V152E |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,677,021 (GRCm39) |
D1184G |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,272,258 (GRCm39) |
|
probably null |
Het |
| Pde6b |
A |
G |
5: 108,551,262 (GRCm39) |
N182S |
possibly damaging |
Het |
| Pom121 |
T |
C |
5: 135,412,526 (GRCm39) |
K516E |
unknown |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptpn18 |
T |
C |
1: 34,498,898 (GRCm39) |
|
probably benign |
Het |
| Rapgef5 |
C |
T |
12: 117,717,154 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,606,202 (GRCm39) |
L4460S |
possibly damaging |
Het |
| Sema6b |
T |
C |
17: 56,436,969 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
T |
A |
13: 33,850,375 (GRCm39) |
C67* |
probably null |
Het |
| Sorbs2 |
T |
G |
8: 46,248,381 (GRCm39) |
V510G |
probably null |
Het |
| Spic |
T |
A |
10: 88,511,864 (GRCm39) |
I131F |
possibly damaging |
Het |
| Spire2 |
T |
C |
8: 124,086,137 (GRCm39) |
S290P |
probably damaging |
Het |
| Tas2r117 |
C |
T |
6: 132,780,447 (GRCm39) |
S195F |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,450 (GRCm39) |
V196A |
probably damaging |
Het |
| Tff1 |
C |
T |
17: 31,381,703 (GRCm39) |
G58D |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,638,640 (GRCm39) |
T283A |
probably benign |
Het |
| Toporsl |
T |
A |
4: 52,610,794 (GRCm39) |
L229H |
probably damaging |
Het |
| Vmn2r80 |
G |
A |
10: 79,007,488 (GRCm39) |
G488D |
probably damaging |
Het |
| Vps54 |
T |
A |
11: 21,261,082 (GRCm39) |
V583D |
probably damaging |
Het |
| Vwa1 |
T |
C |
4: 155,855,255 (GRCm39) |
E286G |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,219,977 (GRCm39) |
I58N |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,800,973 (GRCm39) |
V109A |
probably damaging |
Het |
| Zfp319 |
C |
T |
8: 96,055,540 (GRCm39) |
R221Q |
probably benign |
Het |
|
| Other mutations in Fam20b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Cancelled
|
UTSW |
1 |
156,533,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
consequences
|
UTSW |
1 |
156,518,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
delisted
|
UTSW |
1 |
156,518,215 (GRCm39) |
missense |
probably benign |
0.18 |
|
Head_over_heels
|
UTSW |
1 |
156,518,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
minuscule
|
UTSW |
1 |
156,533,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
squirt
|
UTSW |
1 |
156,533,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Fam20b
|
UTSW |
1 |
156,518,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Fam20b
|
UTSW |
1 |
156,518,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Fam20b
|
UTSW |
1 |
156,509,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0443:Fam20b
|
UTSW |
1 |
156,509,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0518:Fam20b
|
UTSW |
1 |
156,515,026 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1466:Fam20b
|
UTSW |
1 |
156,513,758 (GRCm39) |
splice site |
probably benign |
|
|
R1584:Fam20b
|
UTSW |
1 |
156,513,758 (GRCm39) |
splice site |
probably benign |
|
|
R2014:Fam20b
|
UTSW |
1 |
156,533,511 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4085:Fam20b
|
UTSW |
1 |
156,533,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4755:Fam20b
|
UTSW |
1 |
156,515,066 (GRCm39) |
nonsense |
probably null |
|
|
R5254:Fam20b
|
UTSW |
1 |
156,533,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Fam20b
|
UTSW |
1 |
156,533,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Fam20b
|
UTSW |
1 |
156,518,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Fam20b
|
UTSW |
1 |
156,515,091 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7013:Fam20b
|
UTSW |
1 |
156,518,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Fam20b
|
UTSW |
1 |
156,529,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7215:Fam20b
|
UTSW |
1 |
156,518,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:Fam20b
|
UTSW |
1 |
156,509,012 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7684:Fam20b
|
UTSW |
1 |
156,518,215 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8036:Fam20b
|
UTSW |
1 |
156,533,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8119:Fam20b
|
UTSW |
1 |
156,518,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Fam20b
|
UTSW |
1 |
156,509,084 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9562:Fam20b
|
UTSW |
1 |
156,530,010 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation