Incidental Mutation 'IGL01062:Spmip6'
ID |
50830 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spmip6
|
Ensembl Gene |
ENSMUSG00000028441 |
Gene Name |
sperm microtubule inner protein 6 |
Synonyms |
1110017D15Rik, Smrp1, Cbe1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01062
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
41505009-41517333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 41511433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 93
(E93D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092744
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030152]
[ENSMUST00000095126]
|
AlphaFold |
Q2MH31 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030152
AA Change: E93D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030152 Gene: ENSMUSG00000028441 AA Change: E93D
Domain | Start | End | E-Value | Type |
Pfam:SMRP1
|
1 |
260 |
3.3e-157 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095126
AA Change: E93D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092744 Gene: ENSMUSG00000028441 AA Change: E93D
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 |
probably benign
Transcript: ENSMUST00000125303
AA Change: E11D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000122537 Gene: ENSMUSG00000028441 AA Change: E11D
Domain | Start | End | E-Value | Type |
Pfam:SMRP1
|
1 |
176 |
5.2e-87 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134546
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138217
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Amer3 |
A |
G |
1: 34,625,820 (GRCm39) |
K20E |
probably damaging |
Het |
Arhgap31 |
A |
G |
16: 38,421,818 (GRCm39) |
L1416P |
probably damaging |
Het |
Avpr1a |
G |
A |
10: 122,285,434 (GRCm39) |
C242Y |
probably damaging |
Het |
Bclaf3 |
T |
C |
X: 158,336,415 (GRCm39) |
Y281H |
probably benign |
Het |
Cdc14a |
T |
A |
3: 116,068,361 (GRCm39) |
|
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cntn4 |
T |
C |
6: 106,595,239 (GRCm39) |
|
probably benign |
Het |
Cyp3a44 |
T |
A |
5: 145,731,149 (GRCm39) |
D217V |
possibly damaging |
Het |
Eprs1 |
A |
G |
1: 185,111,812 (GRCm39) |
E274G |
probably benign |
Het |
Ercc6l2 |
G |
T |
13: 63,995,268 (GRCm39) |
Q354H |
probably null |
Het |
Glb1l |
A |
T |
1: 75,177,882 (GRCm39) |
I392N |
probably damaging |
Het |
Gm3173 |
T |
C |
14: 15,728,472 (GRCm39) |
|
probably null |
Het |
Hadh |
C |
T |
3: 131,034,640 (GRCm39) |
V219M |
probably damaging |
Het |
Hspb9 |
A |
G |
11: 100,604,761 (GRCm39) |
H29R |
possibly damaging |
Het |
Iqgap3 |
G |
T |
3: 88,017,429 (GRCm39) |
V240L |
probably benign |
Het |
Jmjd1c |
T |
C |
10: 67,062,494 (GRCm39) |
S1616P |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,907,461 (GRCm39) |
I1662V |
probably benign |
Het |
Maco1 |
A |
T |
4: 134,560,608 (GRCm39) |
V125E |
probably damaging |
Het |
Mapre3 |
A |
G |
5: 31,022,240 (GRCm39) |
I236V |
probably benign |
Het |
Med17 |
T |
C |
9: 15,190,917 (GRCm39) |
E58G |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,189,749 (GRCm39) |
E1099G |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,439,522 (GRCm39) |
V348D |
probably damaging |
Het |
Nat10 |
A |
T |
2: 103,573,393 (GRCm39) |
I368N |
probably damaging |
Het |
Nol6 |
T |
C |
4: 41,118,205 (GRCm39) |
I811V |
probably benign |
Het |
Oas1d |
C |
A |
5: 121,057,127 (GRCm39) |
Y244* |
probably null |
Het |
Or6e1 |
A |
T |
14: 54,520,181 (GRCm39) |
M57K |
probably damaging |
Het |
Osbpl1a |
A |
G |
18: 13,038,132 (GRCm39) |
V273A |
probably benign |
Het |
Pigw |
T |
C |
11: 84,768,769 (GRCm39) |
R187G |
probably benign |
Het |
Plekhg5 |
G |
A |
4: 152,192,953 (GRCm39) |
D603N |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,456,414 (GRCm39) |
V1058A |
probably damaging |
Het |
Robo4 |
G |
A |
9: 37,317,296 (GRCm39) |
S537N |
probably benign |
Het |
Rptn |
T |
A |
3: 93,304,489 (GRCm39) |
F607L |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,759,972 (GRCm39) |
V44A |
probably damaging |
Het |
Sh3bp4 |
C |
A |
1: 89,071,682 (GRCm39) |
Q177K |
probably benign |
Het |
Skic3 |
T |
A |
13: 76,303,581 (GRCm39) |
L1225* |
probably null |
Het |
Srrt |
C |
A |
5: 137,294,569 (GRCm39) |
G779V |
probably damaging |
Het |
Tamalin |
A |
G |
15: 101,126,777 (GRCm39) |
|
probably benign |
Het |
Tex21 |
T |
C |
12: 76,245,718 (GRCm39) |
D526G |
probably benign |
Het |
Vmn1r10 |
A |
G |
6: 57,090,821 (GRCm39) |
S138G |
possibly damaging |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
Zfp454 |
T |
C |
11: 50,765,033 (GRCm39) |
E22G |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,765,795 (GRCm39) |
C1441S |
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 |
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 |
R4414:Spmip6
|
UTSW |
4 |
41,505,574 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |
|
|
|
Posted On |
2013-06-21 |