Incidental Mutation 'R5471:Fam20b'
ID |
433790 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam20b
|
Ensembl Gene |
ENSMUSG00000033557 |
Gene Name |
FAM20B, glycosaminoglycan xylosylkinase |
Synonyms |
C530043G21Rik |
MMRRC Submission |
043032-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5471 (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 156533299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 106
(T106A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112534
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086153]
[ENSMUST00000122424]
|
AlphaFold |
Q8VCS3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086153
AA Change: T106A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083322 Gene: ENSMUSG00000033557 AA Change: T106A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
Pfam:Fam20C
|
188 |
399 |
3.1e-89 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122424
AA Change: T106A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112534 Gene: ENSMUSG00000033557 AA Change: T106A
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 |
0.3797 |
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
Validation Efficiency |
96% (67/70) |
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 |
Acsm1 |
C |
T |
7: 119,259,829 (GRCm39) |
H493Y |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,210,850 (GRCm39) |
I290V |
probably benign |
Het |
Ankfy1 |
T |
A |
11: 72,619,617 (GRCm39) |
N163K |
probably benign |
Het |
Baiap2l1 |
T |
G |
5: 144,218,951 (GRCm39) |
N219T |
probably benign |
Het |
Cd72 |
T |
C |
4: 43,448,345 (GRCm39) |
I312V |
probably benign |
Het |
Cfap54 |
A |
T |
10: 92,864,522 (GRCm39) |
M139K |
probably damaging |
Het |
Clec4n |
T |
A |
6: 123,209,145 (GRCm39) |
M70K |
probably benign |
Het |
Cmklr2 |
A |
C |
1: 63,223,058 (GRCm39) |
V59G |
probably damaging |
Het |
Cwh43 |
T |
A |
5: 73,565,574 (GRCm39) |
C46* |
probably null |
Het |
Cyp1a2 |
A |
T |
9: 57,586,303 (GRCm39) |
I405N |
probably damaging |
Het |
Dlc1 |
G |
T |
8: 37,051,879 (GRCm39) |
S617R |
probably benign |
Het |
Eif2ak4 |
A |
G |
2: 118,304,613 (GRCm39) |
N1546S |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,756,555 (GRCm39) |
I548V |
probably benign |
Het |
Exoc6 |
A |
G |
19: 37,588,065 (GRCm39) |
D566G |
probably benign |
Het |
Fam83h |
T |
C |
15: 75,874,752 (GRCm39) |
T862A |
probably benign |
Het |
Fgfr1op2 |
A |
T |
6: 146,498,860 (GRCm39) |
|
probably null |
Het |
Gcnt2 |
A |
G |
13: 41,014,195 (GRCm39) |
Y122C |
probably damaging |
Het |
Gm11992 |
A |
T |
11: 9,018,333 (GRCm39) |
|
probably null |
Het |
Gm5114 |
C |
A |
7: 39,058,534 (GRCm39) |
E362* |
probably null |
Het |
Gm815 |
A |
G |
19: 26,865,769 (GRCm39) |
T96A |
unknown |
Het |
Gm8674 |
A |
G |
13: 50,054,849 (GRCm39) |
|
noncoding transcript |
Het |
Gnat3 |
T |
A |
5: 18,196,322 (GRCm39) |
I56N |
probably damaging |
Het |
Igkv1-133 |
T |
C |
6: 67,702,531 (GRCm39) |
V83A |
probably benign |
Het |
Mrgprb8 |
T |
A |
7: 48,038,471 (GRCm39) |
N47K |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,197,917 (GRCm39) |
D1182G |
probably damaging |
Het |
Neto2 |
T |
C |
8: 86,367,389 (GRCm39) |
T480A |
probably benign |
Het |
Npnt |
T |
G |
3: 132,620,148 (GRCm39) |
N115T |
probably benign |
Het |
Nr1h5 |
T |
C |
3: 102,856,442 (GRCm39) |
N279S |
possibly damaging |
Het |
Ntrk2 |
T |
C |
13: 59,019,574 (GRCm39) |
V395A |
probably benign |
Het |
Or2ak6 |
T |
C |
11: 58,593,151 (GRCm39) |
L208S |
probably damaging |
Het |
Or5ac23 |
T |
G |
16: 59,148,994 (GRCm39) |
N293H |
probably damaging |
Het |
Or6c1 |
A |
G |
10: 129,517,925 (GRCm39) |
S228P |
probably damaging |
Het |
Padi2 |
A |
G |
4: 140,660,519 (GRCm39) |
K333R |
possibly damaging |
Het |
Pira1 |
T |
A |
7: 3,738,514 (GRCm39) |
I621F |
probably benign |
Het |
Ptgis |
C |
A |
2: 167,066,039 (GRCm39) |
M130I |
probably benign |
Het |
Ptpn4 |
A |
T |
1: 119,693,649 (GRCm39) |
Y124* |
probably null |
Het |
Saal1 |
C |
T |
7: 46,349,072 (GRCm39) |
V281M |
probably benign |
Het |
Saxo1 |
G |
A |
4: 86,363,961 (GRCm39) |
T174I |
probably damaging |
Het |
Slc7a12 |
G |
A |
3: 14,545,935 (GRCm39) |
V27M |
probably damaging |
Het |
Slco4c1 |
C |
A |
1: 96,799,770 (GRCm39) |
R22L |
probably benign |
Het |
Slfn9 |
T |
G |
11: 82,873,613 (GRCm39) |
Q430P |
possibly damaging |
Het |
Slit2 |
T |
A |
5: 48,346,897 (GRCm39) |
N246K |
probably damaging |
Het |
Stox2 |
G |
T |
8: 47,646,548 (GRCm39) |
T304K |
probably damaging |
Het |
Tmem87b |
T |
G |
2: 128,693,240 (GRCm39) |
F542V |
possibly damaging |
Het |
Topaz1 |
T |
G |
9: 122,620,481 (GRCm39) |
|
probably null |
Het |
Trappc12 |
G |
A |
12: 28,741,499 (GRCm39) |
R737W |
probably damaging |
Het |
Trim9 |
A |
G |
12: 70,393,566 (GRCm39) |
I126T |
possibly damaging |
Het |
Txnl1 |
A |
G |
18: 63,809,997 (GRCm39) |
C149R |
probably damaging |
Het |
Ubald1 |
G |
A |
16: 4,693,705 (GRCm39) |
T70M |
probably damaging |
Het |
Vash1 |
G |
A |
12: 86,735,902 (GRCm39) |
V263M |
possibly damaging |
Het |
Vsx1 |
T |
C |
2: 150,524,986 (GRCm39) |
T343A |
probably benign |
Het |
Zfp397 |
A |
G |
18: 24,093,081 (GRCm39) |
N189D |
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 |
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 |
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'- ATCAAGACCGGGTCCCATAG -3'
(R):5'- GAATGATGACTGGCTTGCG -3'
Sequencing Primer
(F):5'- AGAGACTTTTGAGATGTCCCAGCC -3'
(R):5'- ACTGGCTTGCGGGTGGAG -3'
|
Posted On |
2016-10-06 |