Incidental Mutation 'R7013:Fam20b'
| ID |
545106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam20b
|
| Ensembl Gene |
ENSMUSG00000033557 |
| Gene Name |
FAM20B, glycosaminoglycan xylosylkinase |
| Synonyms |
C530043G21Rik |
| MMRRC Submission |
045114-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156506102-156546656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156518135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 220
(S220P)
|
| 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: S220P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083322
Gene: ENSMUSG00000033557
AA Change: S220P
| 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: S220P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112534
Gene: ENSMUSG00000033557
AA Change: S220P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:DUF1193
|
187 |
402 |
2e-95 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (47/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,618,345 (GRCm39) |
I213V |
probably null |
Het |
| Abcc4 |
A |
T |
14: 118,763,755 (GRCm39) |
C952S |
probably benign |
Het |
| Adhfe1 |
T |
C |
1: 9,620,816 (GRCm39) |
|
probably benign |
Het |
| Apob |
T |
A |
12: 8,060,080 (GRCm39) |
L2854* |
probably null |
Het |
| Arhgap5 |
T |
A |
12: 52,565,109 (GRCm39) |
N693K |
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,933,649 (GRCm39) |
V508A |
probably damaging |
Het |
| Atl1 |
A |
G |
12: 70,000,214 (GRCm39) |
E288G |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,806,270 (GRCm39) |
S455P |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,857,392 (GRCm39) |
L63Q |
probably damaging |
Het |
| Crmp1 |
A |
T |
5: 37,426,036 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,298,780 (GRCm39) |
D528G |
unknown |
Het |
| Dact2 |
T |
C |
17: 14,423,796 (GRCm39) |
T66A |
probably benign |
Het |
| Dkk2 |
T |
C |
3: 131,880,760 (GRCm39) |
L135P |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,278,129 (GRCm39) |
N381S |
probably benign |
Het |
| Dsg4 |
T |
C |
18: 20,591,578 (GRCm39) |
V439A |
possibly damaging |
Het |
| Dysf |
C |
T |
6: 84,114,340 (GRCm39) |
P1240S |
probably damaging |
Het |
| Esyt1 |
A |
T |
10: 128,361,520 (GRCm39) |
V58E |
probably damaging |
Het |
| Exo1 |
G |
T |
1: 175,721,338 (GRCm39) |
A326S |
probably damaging |
Het |
| Fmo6 |
G |
A |
1: 162,745,817 (GRCm39) |
T402I |
probably benign |
Het |
| Galnt10 |
A |
T |
11: 57,656,410 (GRCm39) |
D198V |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,483,108 (GRCm39) |
E604D |
probably benign |
Het |
| Il20rb |
A |
G |
9: 100,343,481 (GRCm39) |
Y258H |
probably benign |
Het |
| Impg1 |
A |
T |
9: 80,285,776 (GRCm39) |
S409R |
probably damaging |
Het |
| Jak3 |
G |
T |
8: 72,131,425 (GRCm39) |
V97F |
possibly damaging |
Het |
| Lbhd1 |
T |
C |
19: 8,861,523 (GRCm39) |
S52P |
probably damaging |
Het |
| Lman2l |
A |
G |
1: 36,482,599 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
C |
A |
17: 17,788,625 (GRCm39) |
M493I |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,188,774 (GRCm39) |
D132G |
probably damaging |
Het |
| Nlrp1a |
G |
A |
11: 71,014,378 (GRCm39) |
R291W |
probably benign |
Het |
| Or1e23 |
G |
T |
11: 73,407,247 (GRCm39) |
Y259* |
probably null |
Het |
| Or4a79 |
T |
A |
2: 89,551,730 (GRCm39) |
I242F |
probably benign |
Het |
| Or4b13 |
C |
T |
2: 90,082,441 (GRCm39) |
R297Q |
possibly damaging |
Het |
| Or4f15 |
G |
A |
2: 111,814,308 (GRCm39) |
A37V |
probably benign |
Het |
| Or4n4b |
T |
A |
14: 50,536,656 (GRCm39) |
I37F |
probably damaging |
Het |
| Orc5 |
A |
G |
5: 22,738,787 (GRCm39) |
V158A |
probably benign |
Het |
| Pate8 |
C |
A |
9: 36,493,854 (GRCm39) |
W26C |
unknown |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,674 (GRCm39) |
N376D |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 116,072,659 (GRCm39) |
I207N |
probably damaging |
Het |
| Recql5 |
A |
G |
11: 115,785,402 (GRCm39) |
V698A |
probably benign |
Het |
| Rnf212 |
A |
T |
5: 108,877,826 (GRCm39) |
M222K |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,788,820 (GRCm39) |
S51G |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,839,365 (GRCm39) |
K121E |
probably damaging |
Het |
| Syt11 |
A |
T |
3: 88,655,296 (GRCm39) |
V335D |
possibly damaging |
Het |
| Terb1 |
A |
T |
8: 105,215,222 (GRCm39) |
C251* |
probably null |
Het |
| Tmprss11d |
C |
A |
5: 86,474,432 (GRCm39) |
R37L |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,576,265 (GRCm39) |
N904S |
possibly damaging |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,714 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn1r66 |
T |
C |
7: 10,008,683 (GRCm39) |
R117G |
possibly damaging |
Het |
| Zfp106 |
T |
C |
2: 120,362,113 (GRCm39) |
D1025G |
probably damaging |
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 |
|
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 |
|
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'- TTAACTCTTGGTCAGGTGGC -3'
(R):5'- ACCTACGTAGGAAAATACATGTGTG -3'
Sequencing Primer
(F):5'- CAGGTGGCTGGCTCCTATTGAG -3'
(R):5'- CATGTGTGAAATGGACTAACATCAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation