Incidental Mutation 'R4277:Spp2'
| ID |
322729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spp2
|
| Ensembl Gene |
ENSMUSG00000026295 |
| Gene Name |
secreted phosphoprotein 2 |
| Synonyms |
spp24, 0610038O04Rik |
| MMRRC Submission |
041078-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R4277 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
88334683-88354160 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88338873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 79
(F79L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027518]
[ENSMUST00000176708]
[ENSMUST00000189225]
|
| AlphaFold |
Q8K1I3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027518
AA Change: F79L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027518
Gene: ENSMUSG00000026295
AA Change: F79L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spp-24
|
67 |
203 |
2.5e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176708
|
| SMART Domains |
Protein: ENSMUSP00000135862
Gene: ENSMUSG00000026295
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spp-24
|
1 |
89 |
1.3e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189225
AA Change: F27L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141021
Gene: ENSMUSG00000026295
AA Change: F27L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spp-24
|
15 |
53 |
1.8e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.5910 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b7 |
A |
G |
6: 34,397,955 (GRCm39) |
|
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,993,418 (GRCm39) |
I291K |
probably benign |
Het |
| Cdhr3 |
T |
G |
12: 33,110,232 (GRCm39) |
S351R |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,809,394 (GRCm39) |
S221P |
probably benign |
Het |
| Dstyk |
G |
A |
1: 132,383,151 (GRCm39) |
|
probably null |
Het |
| Ern1 |
T |
C |
11: 106,298,007 (GRCm39) |
I705V |
probably benign |
Het |
| Folh1 |
A |
G |
7: 86,412,123 (GRCm39) |
|
probably null |
Het |
| Hemk1 |
A |
G |
9: 107,205,728 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
| Ldhc |
G |
A |
7: 46,515,890 (GRCm39) |
A62T |
probably benign |
Het |
| Ndufs1 |
C |
T |
1: 63,209,256 (GRCm39) |
V36I |
possibly damaging |
Het |
| Nsun4 |
C |
T |
4: 115,891,479 (GRCm39) |
G300D |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,398,914 (GRCm39) |
Y26C |
probably damaging |
Het |
| Ntn4 |
T |
C |
10: 93,577,072 (GRCm39) |
I580T |
possibly damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,685 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Rasal2 |
A |
T |
1: 156,984,696 (GRCm39) |
I992N |
possibly damaging |
Het |
| Rasgrp4 |
T |
A |
7: 28,852,019 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
| Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,187,264 (GRCm39) |
T699A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
|
| Other mutations in Spp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02066:Spp2
|
APN |
1 |
88,344,965 (GRCm39) |
missense |
probably benign |
|
|
IGL02530:Spp2
|
APN |
1 |
88,338,868 (GRCm39) |
nonsense |
probably null |
|
|
PIT4260001:Spp2
|
UTSW |
1 |
88,338,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0094:Spp2
|
UTSW |
1 |
88,348,402 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1500:Spp2
|
UTSW |
1 |
88,340,015 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4906:Spp2
|
UTSW |
1 |
88,339,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5866:Spp2
|
UTSW |
1 |
88,340,025 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6707:Spp2
|
UTSW |
1 |
88,345,016 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7141:Spp2
|
UTSW |
1 |
88,335,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Spp2
|
UTSW |
1 |
88,344,975 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9484:Spp2
|
UTSW |
1 |
88,334,695 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCAGTCTGAGTGCACACC -3'
(R):5'- TGTGTGCCGGAATGGAAGAC -3'
Sequencing Primer
(F):5'- TGCCAAGGTGACACATAGCTTTC -3'
(R):5'- GACAGACAATGGCCAAGCTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation