Incidental Mutation 'R3417:Strbp'
ID |
266830 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strbp
|
Ensembl Gene |
ENSMUSG00000026915 |
Gene Name |
spermatid perinuclear RNA binding protein |
Synonyms |
Spnr, C230082I21Rik, 6430510M02Rik |
MMRRC Submission |
040635-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.526)
|
Stock # |
R3417 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37459880-37593890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 37480737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Threonine
at position 610
(R610T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028279]
[ENSMUST00000072186]
[ENSMUST00000183690]
|
AlphaFold |
Q91WM1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028279
AA Change: R610T
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000028279 Gene: ENSMUSG00000026915 AA Change: R610T
Domain | Start | End | E-Value | Type |
DZF
|
81 |
334 |
2.45e-168 |
SMART |
DSRM
|
388 |
452 |
3.11e-16 |
SMART |
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
DSRM
|
511 |
575 |
1.2e-22 |
SMART |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072186
AA Change: R610T
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000072047 Gene: ENSMUSG00000026915 AA Change: R610T
Domain | Start | End | E-Value | Type |
DZF
|
81 |
334 |
2.45e-168 |
SMART |
DSRM
|
388 |
452 |
3.11e-16 |
SMART |
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
DSRM
|
511 |
575 |
1.2e-22 |
SMART |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183690
AA Change: R610T
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139145 Gene: ENSMUSG00000026915 AA Change: R610T
Domain | Start | End | E-Value | Type |
DZF
|
81 |
334 |
2.45e-168 |
SMART |
DSRM
|
388 |
452 |
3.11e-16 |
SMART |
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
DSRM
|
511 |
575 |
1.2e-22 |
SMART |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203861
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204569
|
Meta Mutation Damage Score |
0.0768 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
98% (54/55) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit premature death, a reduced body size and an abnormal clutching reflex. Minor brain abnormalities and spermatogenesis defects were also noted. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,224,302 (GRCm39) |
|
probably benign |
Het |
Adgrl2 |
T |
C |
3: 148,564,965 (GRCm39) |
Y201C |
probably damaging |
Het |
Ankar |
A |
G |
1: 72,698,135 (GRCm39) |
|
probably null |
Het |
Ankrd17 |
G |
A |
5: 90,391,772 (GRCm39) |
T1857I |
possibly damaging |
Het |
Atp6v0d2 |
A |
G |
4: 19,888,829 (GRCm39) |
|
probably benign |
Het |
Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
Cfc1 |
A |
T |
1: 34,575,457 (GRCm39) |
R44* |
probably null |
Het |
Col6a1 |
C |
T |
10: 76,548,203 (GRCm39) |
V618M |
unknown |
Het |
Crmp1 |
A |
T |
5: 37,426,031 (GRCm39) |
I159L |
possibly damaging |
Het |
Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
Cyp4f39 |
T |
C |
17: 32,708,716 (GRCm39) |
V421A |
possibly damaging |
Het |
Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
Fsip2 |
G |
A |
2: 82,816,854 (GRCm39) |
V4196I |
possibly damaging |
Het |
Icosl |
A |
T |
10: 77,907,869 (GRCm39) |
N143I |
possibly damaging |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Irag1 |
T |
C |
7: 110,476,161 (GRCm39) |
T597A |
possibly damaging |
Het |
Jrk |
A |
G |
15: 74,578,734 (GRCm39) |
Y184H |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,515,715 (GRCm39) |
L113P |
probably damaging |
Het |
Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
Map4k5 |
A |
T |
12: 69,856,038 (GRCm39) |
V716E |
probably damaging |
Het |
Mcm9 |
T |
C |
10: 53,413,503 (GRCm39) |
T1264A |
possibly damaging |
Het |
Mia3 |
T |
A |
1: 183,143,444 (GRCm39) |
D100V |
probably damaging |
Het |
Mrgprb2 |
C |
A |
7: 48,202,281 (GRCm39) |
R148L |
probably damaging |
Het |
Mterf1a |
A |
G |
5: 3,940,795 (GRCm39) |
S358P |
probably damaging |
Het |
Myd88 |
T |
C |
9: 119,166,556 (GRCm39) |
I253V |
possibly damaging |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nqo2 |
G |
T |
13: 34,163,616 (GRCm39) |
V92L |
probably benign |
Het |
Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
Pcdhb15 |
A |
T |
18: 37,608,216 (GRCm39) |
N483Y |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,795,235 (GRCm39) |
F667S |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,929,828 (GRCm39) |
A228E |
probably damaging |
Het |
Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
Rtl4 |
C |
T |
X: 143,902,901 (GRCm39) |
Q108* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,869,549 (GRCm39) |
|
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slc44a1 |
G |
A |
4: 53,553,549 (GRCm39) |
V519I |
probably benign |
Het |
Smg1 |
G |
C |
7: 117,748,076 (GRCm39) |
|
probably benign |
Het |
Sptlc2 |
A |
G |
12: 87,393,582 (GRCm39) |
|
probably benign |
Het |
St13 |
A |
T |
15: 81,253,651 (GRCm39) |
|
probably benign |
Het |
Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
Tex55 |
A |
C |
16: 38,649,102 (GRCm39) |
D2E |
probably benign |
Het |
Tgm3 |
G |
A |
2: 129,889,692 (GRCm39) |
V629M |
possibly damaging |
Het |
Tnr |
T |
C |
1: 159,722,612 (GRCm39) |
V1019A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,615,908 (GRCm39) |
C14932* |
probably null |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
|
Other mutations in Strbp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00087:Strbp
|
APN |
2 |
37,476,516 (GRCm39) |
splice site |
probably benign |
|
IGL00656:Strbp
|
APN |
2 |
37,493,150 (GRCm39) |
splice site |
probably benign |
|
IGL01376:Strbp
|
APN |
2 |
37,535,663 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01998:Strbp
|
APN |
2 |
37,515,297 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02347:Strbp
|
APN |
2 |
37,535,660 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02453:Strbp
|
APN |
2 |
37,476,520 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02804:Strbp
|
APN |
2 |
37,514,498 (GRCm39) |
splice site |
probably benign |
|
IGL03102:Strbp
|
APN |
2 |
37,476,515 (GRCm39) |
splice site |
probably benign |
|
PIT4418001:Strbp
|
UTSW |
2 |
37,535,504 (GRCm39) |
missense |
probably benign |
|
R0382:Strbp
|
UTSW |
2 |
37,490,838 (GRCm39) |
missense |
probably benign |
0.00 |
R0575:Strbp
|
UTSW |
2 |
37,530,885 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0610:Strbp
|
UTSW |
2 |
37,474,089 (GRCm39) |
missense |
probably damaging |
0.97 |
R0825:Strbp
|
UTSW |
2 |
37,525,539 (GRCm39) |
missense |
probably benign |
0.00 |
R1829:Strbp
|
UTSW |
2 |
37,530,921 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1831:Strbp
|
UTSW |
2 |
37,515,277 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3416:Strbp
|
UTSW |
2 |
37,480,737 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4673:Strbp
|
UTSW |
2 |
37,535,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R5093:Strbp
|
UTSW |
2 |
37,517,499 (GRCm39) |
missense |
probably damaging |
0.99 |
R5099:Strbp
|
UTSW |
2 |
37,493,030 (GRCm39) |
missense |
probably damaging |
0.98 |
R5269:Strbp
|
UTSW |
2 |
37,517,455 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5378:Strbp
|
UTSW |
2 |
37,490,818 (GRCm39) |
missense |
probably benign |
0.03 |
R5378:Strbp
|
UTSW |
2 |
37,489,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R5454:Strbp
|
UTSW |
2 |
37,535,495 (GRCm39) |
missense |
probably benign |
0.00 |
R5905:Strbp
|
UTSW |
2 |
37,515,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Strbp
|
UTSW |
2 |
37,515,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R6374:Strbp
|
UTSW |
2 |
37,493,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R6700:Strbp
|
UTSW |
2 |
37,493,975 (GRCm39) |
missense |
probably null |
0.01 |
R6800:Strbp
|
UTSW |
2 |
37,515,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R7032:Strbp
|
UTSW |
2 |
37,493,125 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7139:Strbp
|
UTSW |
2 |
37,514,514 (GRCm39) |
missense |
probably benign |
0.00 |
R7261:Strbp
|
UTSW |
2 |
37,531,149 (GRCm39) |
splice site |
probably null |
|
R7481:Strbp
|
UTSW |
2 |
37,490,766 (GRCm39) |
missense |
probably benign |
0.02 |
R7718:Strbp
|
UTSW |
2 |
37,515,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R7959:Strbp
|
UTSW |
2 |
37,530,906 (GRCm39) |
missense |
probably benign |
0.00 |
R8921:Strbp
|
UTSW |
2 |
37,514,503 (GRCm39) |
critical splice donor site |
probably null |
|
R8936:Strbp
|
UTSW |
2 |
37,493,949 (GRCm39) |
nonsense |
probably null |
|
R9742:Strbp
|
UTSW |
2 |
37,515,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTATAGTTACTTAGCAGATCCC -3'
(R):5'- TTGCAGATGGTCAACTGAAGAG -3'
Sequencing Primer
(F):5'- TCTATATACTCCTACACATGTGCAG -3'
(R):5'- TGGTCAACTGAAGAGACTAACTATAG -3'
|
Posted On |
2015-02-18 |