Incidental Mutation 'R5781:Fetub'
| ID |
447754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fetub
|
| Ensembl Gene |
ENSMUSG00000022871 |
| Gene Name |
fetuin beta |
| Synonyms |
2310011O17Rik, D17980 |
| MMRRC Submission |
043378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5781 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22737132-22758518 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 22751081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 143
(R143C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023587]
[ENSMUST00000116625]
[ENSMUST00000167399]
[ENSMUST00000170805]
[ENSMUST00000231768]
[ENSMUST00000231880]
[ENSMUST00000232097]
|
| AlphaFold |
Q9QXC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023587
AA Change: R143C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023587
Gene: ENSMUSG00000022871
AA Change: R143C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
CY
|
28 |
129 |
1.05e-2 |
SMART |
|
CY
|
153 |
255 |
1.77e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116625
AA Change: R63C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112324
Gene: ENSMUSG00000022871
AA Change: R63C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CY
|
1 |
61 |
4e-33 |
BLAST |
|
CY
|
73 |
175 |
1.77e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167399
AA Change: R143C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128745
Gene: ENSMUSG00000022871
AA Change: R143C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
CY
|
28 |
129 |
1.05e-2 |
SMART |
|
CY
|
153 |
255 |
1.77e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170805
AA Change: R143C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128989
Gene: ENSMUSG00000022871
AA Change: R143C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
CY
|
28 |
129 |
1.05e-2 |
SMART |
|
CY
|
153 |
255 |
1.77e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231768
AA Change: R143C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231880
AA Change: R63C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232097
AA Change: R143C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2607 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female infertility due to premature hardening of the zona pellucida. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,992,813 (GRCm39) |
L1617P |
probably damaging |
Het |
| Abhd16b |
T |
C |
2: 181,135,947 (GRCm39) |
V283A |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 58,971,040 (GRCm39) |
R208L |
possibly damaging |
Het |
| Adamts4 |
T |
C |
1: 171,078,584 (GRCm39) |
I56T |
possibly damaging |
Het |
| Alpk1 |
A |
C |
3: 127,473,684 (GRCm39) |
V773G |
possibly damaging |
Het |
| Arhgap10 |
G |
T |
8: 78,177,336 (GRCm39) |
Q100K |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,489,439 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
T |
6: 24,564,377 (GRCm39) |
H277L |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,514,074 (GRCm39) |
V291E |
probably damaging |
Het |
| Cnot6l |
A |
C |
5: 96,234,024 (GRCm39) |
V329G |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,286,908 (GRCm39) |
T910A |
unknown |
Het |
| Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,567 (GRCm39) |
I846T |
probably benign |
Het |
| Evc |
A |
T |
5: 37,483,914 (GRCm39) |
S129T |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,623,898 (GRCm39) |
V1377A |
probably damaging |
Het |
| Haus6 |
C |
T |
4: 86,519,500 (GRCm39) |
A203T |
possibly damaging |
Het |
| Hkdc1 |
T |
G |
10: 62,253,712 (GRCm39) |
D23A |
probably damaging |
Het |
| Hpdl |
C |
T |
4: 116,677,775 (GRCm39) |
V229M |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,810,518 (GRCm39) |
Y175C |
probably damaging |
Het |
| Hyal1 |
C |
T |
9: 107,454,866 (GRCm39) |
P59S |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,487,699 (GRCm39) |
C2374Y |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,759,139 (GRCm39) |
Y114* |
probably null |
Het |
| Mc2r |
A |
T |
18: 68,540,466 (GRCm39) |
Y276N |
possibly damaging |
Het |
| Mc2r |
A |
T |
18: 68,540,468 (GRCm39) |
I275K |
probably damaging |
Het |
| Mlycd |
A |
G |
8: 120,137,019 (GRCm39) |
Y413C |
probably damaging |
Het |
| Mocs2 |
T |
G |
13: 114,957,455 (GRCm39) |
S86R |
probably damaging |
Het |
| Msx2 |
C |
A |
13: 53,626,644 (GRCm39) |
A35S |
probably benign |
Het |
| Or6c201 |
A |
T |
10: 128,969,016 (GRCm39) |
L207H |
probably damaging |
Het |
| Pla2g4f |
C |
A |
2: 120,135,504 (GRCm39) |
S390I |
probably damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,148 (GRCm39) |
A163V |
possibly damaging |
Het |
| Pnn |
T |
C |
12: 59,118,605 (GRCm39) |
V396A |
probably damaging |
Het |
| Rbmxl1 |
G |
A |
8: 79,232,270 (GRCm39) |
|
probably benign |
Het |
| Recql |
G |
T |
6: 142,311,344 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,699,089 (GRCm39) |
N1195K |
probably benign |
Het |
| Rfwd3 |
G |
A |
8: 111,999,716 (GRCm39) |
T754M |
probably benign |
Het |
| Sctr |
A |
G |
1: 119,959,350 (GRCm39) |
T98A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 141,921,803 (GRCm39) |
D6E |
probably benign |
Het |
| Smpdl3a |
T |
A |
10: 57,684,034 (GRCm39) |
I264K |
possibly damaging |
Het |
| Spag6 |
A |
G |
2: 18,736,804 (GRCm39) |
I154V |
probably benign |
Het |
| Tbc1d12 |
A |
C |
19: 38,871,127 (GRCm39) |
T297P |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,396,385 (GRCm39) |
D226G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,846,588 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,195,407 (GRCm39) |
Y1210H |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
| Vmn2r120 |
T |
G |
17: 57,831,938 (GRCm39) |
T284P |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,794,181 (GRCm39) |
A2286S |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,331,332 (GRCm39) |
|
probably benign |
Het |
| Zfr2 |
T |
A |
10: 81,079,547 (GRCm39) |
V362E |
probably benign |
Het |
|
| Other mutations in Fetub |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00706:Fetub
|
APN |
16 |
22,754,446 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL00843:Fetub
|
APN |
16 |
22,748,379 (GRCm39) |
splice site |
probably benign |
|
|
IGL01450:Fetub
|
APN |
16 |
22,747,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01522:Fetub
|
APN |
16 |
22,748,391 (GRCm39) |
start codon destroyed |
probably null |
0.10 |
|
IGL02222:Fetub
|
APN |
16 |
22,751,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02745:Fetub
|
APN |
16 |
22,756,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0062:Fetub
|
UTSW |
16 |
22,747,836 (GRCm39) |
intron |
probably benign |
|
|
R0310:Fetub
|
UTSW |
16 |
22,748,506 (GRCm39) |
splice site |
probably benign |
|
|
R0508:Fetub
|
UTSW |
16 |
22,748,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0604:Fetub
|
UTSW |
16 |
22,754,410 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1560:Fetub
|
UTSW |
16 |
22,758,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1844:Fetub
|
UTSW |
16 |
22,754,419 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1896:Fetub
|
UTSW |
16 |
22,751,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Fetub
|
UTSW |
16 |
22,754,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3717:Fetub
|
UTSW |
16 |
22,754,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Fetub
|
UTSW |
16 |
22,754,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Fetub
|
UTSW |
16 |
22,756,645 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4941:Fetub
|
UTSW |
16 |
22,756,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5468:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5690:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5692:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6273:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6274:Fetub
|
UTSW |
16 |
22,751,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Fetub
|
UTSW |
16 |
22,748,007 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7698:Fetub
|
UTSW |
16 |
22,758,059 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7969:Fetub
|
UTSW |
16 |
22,748,449 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8437:Fetub
|
UTSW |
16 |
22,752,985 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8788:Fetub
|
UTSW |
16 |
22,758,182 (GRCm39) |
nonsense |
probably null |
|
|
R8855:Fetub
|
UTSW |
16 |
22,758,321 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8866:Fetub
|
UTSW |
16 |
22,758,321 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAAAGAGTTCTCCCCACC -3'
(R):5'- TGACTTAGGAAGGCTGTCCC -3'
Sequencing Primer
(F):5'- ACACAGAACTGGATTTAAGTTTCAC -3'
(R):5'- TGTCCCCTGGGAGGAGAAGTATG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation