Incidental Mutation 'P0016:Slain1'
| ID |
7586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slain1
|
| Ensembl Gene |
ENSMUSG00000055717 |
| Gene Name |
SLAIN motif family, member 1 |
| Synonyms |
9630044O09Rik |
| MMRRC Submission |
038269-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
P0016 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
103887664-103942343 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103923110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 187
(T187A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069443]
[ENSMUST00000160805]
[ENSMUST00000162818]
|
| AlphaFold |
Q68FF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069443
AA Change: T234A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000070592
Gene: ENSMUSG00000055717
AA Change: T234A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
13 |
72 |
2e-3 |
SMART |
|
low complexity region
|
91 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
173 |
N/A |
INTRINSIC |
|
Pfam:SLAIN
|
185 |
237 |
6.7e-19 |
PFAM |
|
Pfam:SLAIN
|
230 |
579 |
1.7e-138 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159456
AA Change: T74A
|
| SMART Domains |
Protein: ENSMUSP00000125685
Gene: ENSMUSG00000055717
AA Change: T74A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SLAIN
|
15 |
420 |
4e-141 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160805
AA Change: T187A
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125128
Gene: ENSMUSG00000055717
AA Change: T187A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
76 |
N/A |
INTRINSIC |
|
Pfam:SLAIN
|
88 |
532 |
2.6e-144 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162818
AA Change: T68A
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000123742
Gene: ENSMUSG00000055717
AA Change: T68A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SLAIN
|
19 |
212 |
2e-86 |
PFAM |
|
| Meta Mutation Damage Score |
0.0592 |
| Coding Region Coverage |
- 1x: 85.6%
- 3x: 81.0%
- 10x: 66.8%
- 20x: 50.1%
|
| Validation Efficiency |
96% (97/101) |
| Allele List at MGI |
All alleles(6) : Gene trapped(6)
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
A |
T |
5: 138,561,200 (GRCm39) |
L154* |
probably null |
Het |
| 4930432E11Rik |
T |
C |
7: 29,262,537 (GRCm39) |
|
noncoding transcript |
Het |
| Arap3 |
T |
A |
18: 38,117,401 (GRCm39) |
T892S |
probably benign |
Het |
| Ctnnd2 |
G |
A |
15: 30,967,084 (GRCm39) |
V987I |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,071,180 (GRCm39) |
I351V |
probably benign |
Het |
| Kif27 |
G |
A |
13: 58,451,266 (GRCm39) |
Q1021* |
probably null |
Het |
| Klb |
G |
A |
5: 65,537,266 (GRCm39) |
W865* |
probably null |
Het |
| Mbd1 |
C |
T |
18: 74,407,609 (GRCm39) |
R130* |
probably null |
Het |
| Mroh7 |
T |
A |
4: 106,565,054 (GRCm39) |
|
probably null |
Het |
| Myo16 |
C |
T |
8: 10,450,596 (GRCm39) |
|
probably benign |
Het |
| Rbm22 |
T |
A |
18: 60,703,842 (GRCm39) |
|
probably benign |
Het |
| Rnaseh2a |
C |
G |
8: 85,686,429 (GRCm39) |
D206H |
probably damaging |
Het |
| Slamf6 |
A |
G |
1: 171,764,068 (GRCm39) |
T154A |
probably damaging |
Het |
| Traip |
A |
G |
9: 107,845,855 (GRCm39) |
D316G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,641,527 (GRCm39) |
D5196G |
probably damaging |
Het |
| Ubr5 |
C |
T |
15: 38,000,822 (GRCm39) |
V1569M |
probably damaging |
Het |
| Zfp750 |
T |
A |
11: 121,404,804 (GRCm39) |
K24* |
probably null |
Het |
| Zfp799 |
T |
C |
17: 33,038,331 (GRCm39) |
E645G |
possibly damaging |
Het |
|
| Other mutations in Slain1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02248:Slain1
|
APN |
14 |
103,923,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Slain1
|
UTSW |
14 |
103,923,261 (GRCm39) |
splice site |
probably benign |
|
|
R0547:Slain1
|
UTSW |
14 |
103,932,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Slain1
|
UTSW |
14 |
103,888,282 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4986:Slain1
|
UTSW |
14 |
103,925,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Slain1
|
UTSW |
14 |
103,894,391 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6899:Slain1
|
UTSW |
14 |
103,888,215 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7355:Slain1
|
UTSW |
14 |
103,940,012 (GRCm39) |
frame shift |
probably null |
|
|
R7442:Slain1
|
UTSW |
14 |
103,923,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Slain1
|
UTSW |
14 |
103,893,429 (GRCm39) |
splice site |
probably null |
|
|
R7910:Slain1
|
UTSW |
14 |
103,923,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Slain1
|
UTSW |
14 |
103,925,782 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8845:Slain1
|
UTSW |
14 |
103,925,747 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8872:Slain1
|
UTSW |
14 |
103,925,841 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8929:Slain1
|
UTSW |
14 |
103,923,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9008:Slain1
|
UTSW |
14 |
103,923,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Slain1
|
UTSW |
14 |
103,902,112 (GRCm39) |
missense |
|
|
|
R9514:Slain1
|
UTSW |
14 |
103,932,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9605:Slain1
|
UTSW |
14 |
103,902,112 (GRCm39) |
missense |
|
|
|
R9683:Slain1
|
UTSW |
14 |
103,925,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slain1
|
UTSW |
14 |
103,921,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Protein Function and Prediction |
SLAIN1, along with SLAIN2, have been identified as microtubule plus-end tracking proteins (1). Further studies determined that SLAIN1 promotes axonal development (2;3).
|
| Expression/Localization |
Northern blot and semiquantitative RT-PCR analyses detected Slain1 expression in mouse thymus, bone marrow, brain, heart, kidney, lung, and testis (4). High Slain1 expression was observed at the stem cell and epiblast stages of mouse embryonic stem cell development (4). In situ hybridization found that Slain1 is expressed in the neural tube and optic vesicles at day 8.5, and then at sites of imminent neural tube closure in the midbrain, hindbrain, and tailbud and in the dorsal aspects of somites (4).
|
| References |
1. van der Vaart, B., Manatschal, C., Grigoriev, I., Olieric, V., Gouveia, S. M., Bjelic, S., Demmers, J., Vorobjev, I., Hoogenraad, C. C., Steinmetz, M. O., and Akhmanova, A. (2011) SLAIN2 Links Microtubule Plus End-Tracking Proteins and Controls Microtubule Growth in Interphase. J Cell Biol. 193, 1083-1099.
2. van der Vaart, B., Franker, M. A., Kuijpers, M., Hua, S., Bouchet, B. P., Jiang, K., Grigoriev, I., Hoogenraad, C. C., and Akhmanova, A. (2012) Microtubule Plus-End Tracking Proteins SLAIN1/2 and Ch-TOG Promote Axonal Development. J Neurosci. 32, 14722-14728.
3. Hirst, C. E., Lim, S. M., Pereira, L. A., Mayberry, R. A., Stanley, E. G., and Elefanty, A. G. (2010) Expression from a Betageo Gene Trap in the Slain1 Gene Locus is Predominantly Associated with the Developing Nervous System. Int J Dev Biol. 54, 1383-1388.
4. Hirst, C. E., Ng, E. S., Azzola, L., Voss, A. K., Thomas, T., Stanley, E. G., and Elefanty, A. G. (2006) Transcriptional Profiling of Mouse and Human ES Cells Identifies SLAIN1, a Novel Stem Cell Gene. Dev Biol. 293, 90-103. |
| Posted On |
2012-10-05 |
| Science Writer |
Anne Murray |
Incidental Mutation