Incidental Mutation 'R4085:Fam20b'
ID |
317063 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam20b
|
Ensembl Gene |
ENSMUSG00000033557 |
Gene Name |
FAM20B, glycosaminoglycan xylosylkinase |
Synonyms |
C530043G21Rik |
MMRRC Submission |
040979-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4085 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
156506102-156546656 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 156533445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 57
(D57G)
|
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: D57G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000083322 Gene: ENSMUSG00000033557 AA Change: D57G
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: D57G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000112534 Gene: ENSMUSG00000033557 AA Change: D57G
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
|
Meta Mutation Damage Score |
0.0707 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (59/60) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Abca15 |
T |
C |
7: 119,981,949 (GRCm39) |
V1088A |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,660,391 (GRCm39) |
I319V |
probably benign |
Het |
Atraid |
A |
T |
5: 31,209,650 (GRCm39) |
|
probably benign |
Het |
Aurkaip1 |
A |
T |
4: 155,917,362 (GRCm39) |
K172N |
probably benign |
Het |
Bicd2 |
T |
A |
13: 49,538,438 (GRCm39) |
|
probably null |
Het |
Ccr1 |
C |
T |
9: 123,763,987 (GRCm39) |
R181H |
probably benign |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
Col4a4 |
C |
A |
1: 82,448,909 (GRCm39) |
|
probably null |
Het |
Coro1b |
T |
C |
19: 4,203,618 (GRCm39) |
V451A |
probably benign |
Het |
Dcc |
T |
A |
18: 71,959,240 (GRCm39) |
Q177H |
probably benign |
Het |
Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
Dynlrb1 |
G |
T |
2: 155,091,896 (GRCm39) |
|
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,045,898 (GRCm39) |
L592Q |
possibly damaging |
Het |
Fbxo33 |
A |
G |
12: 59,247,591 (GRCm39) |
|
probably benign |
Het |
Fndc4 |
A |
G |
5: 31,451,121 (GRCm39) |
I190T |
probably damaging |
Het |
Gad1 |
G |
T |
2: 70,420,192 (GRCm39) |
A359S |
probably benign |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm43517 |
A |
G |
12: 49,437,897 (GRCm39) |
|
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,821,533 (GRCm39) |
V1052D |
possibly damaging |
Het |
Herc6 |
G |
A |
6: 57,624,054 (GRCm39) |
C608Y |
probably benign |
Het |
Itpr2 |
T |
A |
6: 146,045,746 (GRCm39) |
D2573V |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,706,415 (GRCm39) |
L201P |
probably damaging |
Het |
Kdm1a |
A |
C |
4: 136,279,273 (GRCm39) |
Y762* |
probably null |
Het |
Mef2c |
C |
T |
13: 83,723,821 (GRCm39) |
T9M |
probably damaging |
Het |
Ndst4 |
A |
G |
3: 125,403,131 (GRCm39) |
I413V |
probably benign |
Het |
Nlrp1b |
T |
C |
11: 71,052,588 (GRCm39) |
T947A |
probably damaging |
Het |
Nlrp5 |
C |
A |
7: 23,129,523 (GRCm39) |
N863K |
probably damaging |
Het |
Opn1sw |
A |
G |
6: 29,380,143 (GRCm39) |
I91T |
possibly damaging |
Het |
Or2y13 |
T |
C |
11: 49,414,955 (GRCm39) |
I135T |
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,221,579 (GRCm39) |
K15E |
possibly damaging |
Het |
Ppp3cb |
A |
G |
14: 20,558,611 (GRCm39) |
C484R |
possibly damaging |
Het |
Rassf2 |
C |
A |
2: 131,846,299 (GRCm39) |
G153C |
probably damaging |
Het |
Rbm15b |
T |
C |
9: 106,762,936 (GRCm39) |
N411D |
possibly damaging |
Het |
Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
Sall1 |
C |
T |
8: 89,755,137 (GRCm39) |
V1281M |
probably benign |
Het |
Sall3 |
A |
T |
18: 81,015,348 (GRCm39) |
M860K |
probably damaging |
Het |
Sik2 |
A |
T |
9: 50,846,685 (GRCm39) |
|
probably benign |
Het |
Sim2 |
A |
G |
16: 93,910,213 (GRCm39) |
Y205C |
possibly damaging |
Het |
Styxl1 |
G |
A |
5: 135,788,019 (GRCm39) |
T92I |
unknown |
Het |
Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
Taok2 |
T |
C |
7: 126,473,897 (GRCm39) |
E403G |
possibly damaging |
Het |
Tedc2 |
A |
T |
17: 24,438,813 (GRCm39) |
V168E |
probably benign |
Het |
Tle6 |
A |
G |
10: 81,430,349 (GRCm39) |
|
probably null |
Het |
Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
Ucp1 |
T |
C |
8: 84,020,580 (GRCm39) |
I130T |
probably benign |
Het |
Urb2 |
A |
G |
8: 124,757,680 (GRCm39) |
H1129R |
probably benign |
Het |
Vmn2r111 |
C |
T |
17: 22,778,096 (GRCm39) |
G528R |
probably benign |
Het |
Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
Xdh |
A |
T |
17: 74,223,874 (GRCm39) |
M506K |
probably benign |
Het |
|
Other mutations in Fam20b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01611:Fam20b
|
APN |
1 |
156,530,035 (GRCm39) |
missense |
probably benign |
0.13 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTAAGATGAAGACTCACCGCTTAG -3'
(R):5'- CCACCATGAAGCTGAAGCAG -3'
Sequencing Primer
(F):5'- TGAAGACTCACCGCTTAGGCTTAAAG -3'
(R):5'- CTGAAGCAGCGAGTTGTGC -3'
|
Posted On |
2015-05-15 |