Incidental Mutation 'R6413:Spmip6'
ID |
514804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spmip6
|
Ensembl Gene |
ENSMUSG00000028441 |
Gene Name |
sperm microtubule inner protein 6 |
Synonyms |
1110017D15Rik, Smrp1, Cbe1 |
MMRRC Submission |
044555-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6413 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
41505009-41517333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41505135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 196
(V196D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092744
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030152]
[ENSMUST00000054920]
[ENSMUST00000095126]
[ENSMUST00000149596]
|
AlphaFold |
Q2MH31 |
Predicted Effect |
probably benign
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: V196D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000092744 Gene: ENSMUSG00000028441 AA Change: V196D
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 |
silent
Transcript: ENSMUST00000125303
|
SMART Domains |
Protein: ENSMUSP00000122537 Gene: ENSMUSG00000028441
Domain | Start | End | E-Value | Type |
Pfam:SMRP1
|
1 |
176 |
5.2e-87 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138217
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149596
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134546
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
100% (37/37) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
C |
A |
13: 119,624,647 (GRCm39) |
|
probably benign |
Het |
Agtpbp1 |
A |
G |
13: 59,647,834 (GRCm39) |
V662A |
possibly damaging |
Het |
Ambra1 |
T |
G |
2: 91,599,429 (GRCm39) |
V183G |
possibly damaging |
Het |
Amdhd2 |
A |
G |
17: 24,377,290 (GRCm39) |
S208P |
probably damaging |
Het |
Ankdd1a |
C |
T |
9: 65,417,654 (GRCm39) |
V133I |
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,592,129 (GRCm39) |
K805R |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,182,583 (GRCm39) |
Q270R |
probably benign |
Het |
Cabp2 |
G |
A |
19: 4,135,698 (GRCm39) |
|
probably null |
Het |
Ccnt1 |
A |
G |
15: 98,441,850 (GRCm39) |
S473P |
probably benign |
Het |
Cenpt |
G |
A |
8: 106,572,973 (GRCm39) |
P373S |
possibly damaging |
Het |
Cyp3a44 |
T |
A |
5: 145,731,254 (GRCm39) |
D182V |
probably damaging |
Het |
Ddx54 |
A |
G |
5: 120,765,127 (GRCm39) |
T799A |
probably benign |
Het |
Dtna |
T |
A |
18: 23,755,071 (GRCm39) |
D464E |
probably damaging |
Het |
E030025P04Rik |
T |
C |
11: 109,030,425 (GRCm39) |
Y154C |
unknown |
Het |
Ephb2 |
C |
A |
4: 136,498,433 (GRCm39) |
E215D |
probably benign |
Het |
Eya4 |
T |
C |
10: 22,992,724 (GRCm39) |
D445G |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,127,683 (GRCm39) |
L2198F |
unknown |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Klhl22 |
T |
C |
16: 17,607,181 (GRCm39) |
F496L |
probably benign |
Het |
Numa1 |
A |
T |
7: 101,639,778 (GRCm39) |
|
probably null |
Het |
Papola |
T |
C |
12: 105,772,763 (GRCm39) |
|
probably benign |
Het |
Phldb1 |
T |
C |
9: 44,607,440 (GRCm39) |
E1255G |
probably damaging |
Het |
Rgs8 |
A |
T |
1: 153,568,619 (GRCm39) |
D168V |
probably damaging |
Het |
Rlf |
A |
G |
4: 121,004,522 (GRCm39) |
V1486A |
probably damaging |
Het |
Rpa2 |
G |
T |
4: 132,501,156 (GRCm39) |
A118S |
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Serpina1f |
T |
A |
12: 103,659,953 (GRCm39) |
I110F |
probably damaging |
Het |
Serpini2 |
T |
C |
3: 75,166,921 (GRCm39) |
Y112C |
probably damaging |
Het |
Sh2b3 |
A |
G |
5: 121,966,986 (GRCm39) |
Y43H |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,963,955 (GRCm39) |
E514G |
probably damaging |
Het |
Slc44a5 |
T |
C |
3: 153,963,387 (GRCm39) |
F388S |
probably benign |
Het |
Tmem176b |
T |
C |
6: 48,815,266 (GRCm39) |
N9S |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,851,790 (GRCm39) |
Q758L |
probably benign |
Het |
Trrap |
T |
A |
5: 144,720,856 (GRCm39) |
I231N |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,730,397 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,870,973 (GRCm39) |
N770S |
probably damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,519,544 (GRCm39) |
Y471* |
probably null |
Het |
Vmn2r8 |
T |
G |
5: 108,949,589 (GRCm39) |
E419D |
probably benign |
Het |
Wdfy4 |
C |
A |
14: 32,689,604 (GRCm39) |
L2818F |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,308,205 (GRCm39) |
Y477F |
probably damaging |
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 |
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 |
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'- ACTCGGGCGTGTCTGAAATG -3'
(R):5'- TCCCAGGGCTTTATACAAAGGG -3'
Sequencing Primer
(F):5'- GGGGTGGGTTTCCTTATCTCATACAG -3'
(R):5'- GCTTTATACAAAGGGTAAGAGGTC -3'
|
Posted On |
2018-05-04 |