Incidental Mutation 'R4414:Spmip6'
| ID |
328055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spmip6
|
| Ensembl Gene |
ENSMUSG00000028441 |
| Gene Name |
sperm microtubule inner protein 6 |
| Synonyms |
1110017D15Rik, Smrp1, Cbe1 |
| MMRRC Submission |
041694-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
41505009-41517333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41505574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 183
(T183A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030152]
[ENSMUST00000054920]
[ENSMUST00000095126]
[ENSMUST00000149596]
|
| AlphaFold |
Q2MH31 |
| Predicted Effect |
silent
Transcript: ENSMUST00000030152
|
| SMART Domains |
Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SMRP1
|
1 |
260 |
3.3e-157 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054920
|
| SMART Domains |
Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
56 |
78 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_31
|
311 |
712 |
9.7e-55 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095126
AA Change: T183A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441
AA Change: T183A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SMRP1
|
1 |
202 |
6.5e-102 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124019
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125303
AA Change: N179S
|
| SMART Domains |
Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441
AA Change: N179S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SMRP1
|
1 |
176 |
5.2e-87 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134546
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149596
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
A |
14: 44,406,690 (GRCm39) |
M120L |
probably benign |
Het |
| Aco2 |
A |
G |
15: 81,773,584 (GRCm39) |
|
probably null |
Het |
| Acss1 |
A |
G |
2: 150,501,823 (GRCm39) |
S115P |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 127,019,411 (GRCm39) |
|
probably null |
Het |
| AU041133 |
C |
T |
10: 81,987,316 (GRCm39) |
T323M |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,977,870 (GRCm39) |
T1148I |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,847,334 (GRCm39) |
V1468I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,115,822 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,941,480 (GRCm39) |
K283E |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,710,853 (GRCm39) |
Q78* |
probably null |
Het |
| Col20a1 |
C |
T |
2: 180,643,043 (GRCm39) |
R796C |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,165,840 (GRCm39) |
T502S |
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,559 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,028,632 (GRCm39) |
F819L |
probably benign |
Het |
| Eloa |
G |
T |
4: 135,738,553 (GRCm39) |
L136I |
possibly damaging |
Het |
| Eloa |
T |
A |
4: 135,738,576 (GRCm39) |
H128L |
probably benign |
Het |
| Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
| Golim4 |
T |
G |
3: 75,802,347 (GRCm39) |
N287T |
probably benign |
Het |
| Gpx8 |
T |
A |
13: 113,179,682 (GRCm39) |
K206N |
possibly damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,004,293 (GRCm39) |
V460F |
probably benign |
Het |
| Kcne4 |
A |
T |
1: 78,795,651 (GRCm39) |
M100L |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,721,077 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,962,387 (GRCm39) |
W1117* |
probably null |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lmln |
T |
G |
16: 32,930,220 (GRCm39) |
I559S |
probably benign |
Het |
| Mapk4 |
A |
T |
18: 74,063,609 (GRCm39) |
F538I |
possibly damaging |
Het |
| Mlxipl |
A |
G |
5: 135,166,253 (GRCm39) |
|
probably benign |
Het |
| Mmrn1 |
T |
C |
6: 60,921,570 (GRCm39) |
L9P |
probably damaging |
Het |
| Mnat1 |
G |
A |
12: 73,228,601 (GRCm39) |
R155H |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Naaladl1 |
T |
C |
19: 6,165,581 (GRCm39) |
L745P |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,467,546 (GRCm39) |
D1409E |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Pla2g4e |
A |
T |
2: 120,013,194 (GRCm39) |
H375Q |
probably benign |
Het |
| Prodh2 |
G |
A |
7: 30,205,877 (GRCm39) |
V238M |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
| Rock1 |
A |
T |
18: 10,080,514 (GRCm39) |
M1010K |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,038,800 (GRCm39) |
|
probably null |
Het |
| Sim1 |
A |
T |
10: 50,857,708 (GRCm39) |
D486V |
probably benign |
Het |
| Src |
A |
G |
2: 157,306,573 (GRCm39) |
D192G |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,006,554 (GRCm39) |
Y54C |
probably damaging |
Het |
| Try4 |
C |
T |
6: 41,281,905 (GRCm39) |
P164S |
possibly damaging |
Het |
| Vegfc |
A |
T |
8: 54,634,130 (GRCm39) |
N270Y |
probably benign |
Het |
|
| Other mutations in Spmip6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00820:Spmip6
|
APN |
4 |
41,507,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01062:Spmip6
|
APN |
4 |
41,511,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02645:Spmip6
|
APN |
4 |
41,517,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03124:Spmip6
|
APN |
4 |
41,507,287 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0284:Spmip6
|
UTSW |
4 |
41,507,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Spmip6
|
UTSW |
4 |
41,507,330 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1761:Spmip6
|
UTSW |
4 |
41,507,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Spmip6
|
UTSW |
4 |
41,507,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2180:Spmip6
|
UTSW |
4 |
41,507,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4415:Spmip6
|
UTSW |
4 |
41,505,574 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4416:Spmip6
|
UTSW |
4 |
41,505,574 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4417:Spmip6
|
UTSW |
4 |
41,505,574 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4516:Spmip6
|
UTSW |
4 |
41,517,200 (GRCm39) |
unclassified |
probably benign |
|
|
R5132:Spmip6
|
UTSW |
4 |
41,517,178 (GRCm39) |
unclassified |
probably benign |
|
|
R6132:Spmip6
|
UTSW |
4 |
41,517,160 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R6413:Spmip6
|
UTSW |
4 |
41,505,135 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8519:Spmip6
|
UTSW |
4 |
41,505,071 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9493:Spmip6
|
UTSW |
4 |
41,508,614 (GRCm39) |
missense |
|
|
|
R9594:Spmip6
|
UTSW |
4 |
41,505,091 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAACCATTGACGTCCCATG -3'
(R):5'- TTCCCAGAGATTGTGCTGTAG -3'
Sequencing Primer
(F):5'- ATTGACGTCCCATGGCGCTAG -3'
(R):5'- CCTTAAGACTGATTCTGTATCCAGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation