Incidental Mutation 'R6523:Sptbn5'
ID |
521458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sptbn5
|
Ensembl Gene |
ENSMUSG00000074899 |
Gene Name |
spectrin beta, non-erythrocytic 5 |
Synonyms |
Spnb5, EG640524 |
MMRRC Submission |
044649-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
R6523 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119871974-119916159 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 119896095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106384
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110756]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000110756
|
SMART Domains |
Protein: ENSMUSP00000106384 Gene: ENSMUSG00000074899
Domain | Start | End | E-Value | Type |
SPEC
|
13 |
111 |
6.45e-8 |
SMART |
Blast:SPEC
|
117 |
206 |
9e-12 |
BLAST |
SPEC
|
219 |
323 |
3.76e-1 |
SMART |
SPEC
|
325 |
425 |
3.48e-13 |
SMART |
SPEC
|
431 |
530 |
1.09e-5 |
SMART |
SPEC
|
536 |
631 |
1.22e-1 |
SMART |
SPEC
|
637 |
737 |
1.78e-10 |
SMART |
SPEC
|
743 |
837 |
4.73e-15 |
SMART |
SPEC
|
843 |
944 |
4.24e-17 |
SMART |
SPEC
|
950 |
1051 |
1.36e-15 |
SMART |
Blast:SPEC
|
1057 |
1130 |
2e-40 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156159
|
SMART Domains |
Protein: ENSMUSP00000115974 Gene: ENSMUSG00000074899
Domain | Start | End | E-Value | Type |
SPEC
|
60 |
160 |
2.54e-6 |
SMART |
SPEC
|
166 |
266 |
1.32e-13 |
SMART |
SPEC
|
272 |
372 |
4.41e-15 |
SMART |
SPEC
|
378 |
477 |
1.56e-15 |
SMART |
SPEC
|
483 |
583 |
1.11e-11 |
SMART |
SPEC
|
589 |
689 |
8.47e-26 |
SMART |
SPEC
|
695 |
795 |
5.56e-12 |
SMART |
SPEC
|
801 |
902 |
7.01e-9 |
SMART |
SPEC
|
908 |
1032 |
4.44e-1 |
SMART |
SPEC
|
1038 |
1138 |
3.73e-13 |
SMART |
Pfam:Spectrin
|
1141 |
1206 |
2.2e-6 |
PFAM |
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
97% (68/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr1 |
A |
G |
1: 173,160,120 (GRCm39) |
|
probably null |
Het |
Alg2 |
A |
T |
4: 47,472,071 (GRCm39) |
S246T |
possibly damaging |
Het |
Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
Arid4a |
A |
G |
12: 71,114,115 (GRCm39) |
|
probably null |
Het |
AU040320 |
G |
A |
4: 126,762,553 (GRCm39) |
|
probably null |
Het |
B430306N03Rik |
A |
G |
17: 48,626,193 (GRCm39) |
T129A |
possibly damaging |
Het |
Blvrb |
C |
A |
7: 27,165,142 (GRCm39) |
|
probably null |
Het |
Ccdc175 |
T |
C |
12: 72,191,565 (GRCm39) |
N337S |
probably benign |
Het |
Ccdc28b |
A |
C |
4: 129,514,780 (GRCm39) |
F110V |
probably damaging |
Het |
Cd200 |
A |
G |
16: 45,220,633 (GRCm39) |
Y16H |
probably benign |
Het |
Cfh |
T |
G |
1: 140,029,445 (GRCm39) |
E950A |
possibly damaging |
Het |
Clec3a |
A |
T |
8: 115,152,345 (GRCm39) |
Y117F |
probably damaging |
Het |
CN725425 |
A |
G |
15: 91,115,784 (GRCm39) |
S9G |
probably benign |
Het |
Coasy |
T |
A |
11: 100,976,944 (GRCm39) |
W535R |
probably damaging |
Het |
Cox4i1 |
T |
A |
8: 121,399,480 (GRCm39) |
S30R |
probably benign |
Het |
Csnk1a1 |
G |
A |
18: 61,688,829 (GRCm39) |
S3N |
probably benign |
Het |
Dcst2 |
C |
G |
3: 89,280,808 (GRCm39) |
L669V |
probably benign |
Het |
Dnah14 |
A |
G |
1: 181,471,186 (GRCm39) |
I1346V |
probably benign |
Het |
Fbxw24 |
G |
A |
9: 109,434,048 (GRCm39) |
R421* |
probably null |
Het |
Fstl5 |
G |
A |
3: 76,443,641 (GRCm39) |
V329I |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,888,235 (GRCm39) |
|
probably null |
Het |
Gna11 |
A |
T |
10: 81,380,688 (GRCm39) |
I25N |
probably damaging |
Het |
Greb1 |
C |
T |
12: 16,734,374 (GRCm39) |
V1539I |
possibly damaging |
Het |
Hipk3 |
T |
A |
2: 104,269,753 (GRCm39) |
T479S |
possibly damaging |
Het |
Hspa1b |
A |
G |
17: 35,176,167 (GRCm39) |
I606T |
probably benign |
Het |
Idnk |
T |
A |
13: 58,311,457 (GRCm39) |
F141L |
probably damaging |
Het |
Ifit3 |
A |
G |
19: 34,565,555 (GRCm39) |
N367S |
probably benign |
Het |
Kcnn1 |
A |
T |
8: 71,299,169 (GRCm39) |
D448E |
possibly damaging |
Het |
Krt14 |
T |
C |
11: 100,095,923 (GRCm39) |
T212A |
possibly damaging |
Het |
Ldlr |
G |
A |
9: 21,648,549 (GRCm39) |
C285Y |
probably damaging |
Het |
Mark3 |
G |
A |
12: 111,593,669 (GRCm39) |
V234I |
probably damaging |
Het |
Meikin |
T |
A |
11: 54,289,327 (GRCm39) |
Y233* |
probably null |
Het |
Mtcl2 |
G |
A |
2: 156,902,263 (GRCm39) |
Q251* |
probably null |
Het |
Muc20 |
T |
C |
16: 32,613,820 (GRCm39) |
D519G |
possibly damaging |
Het |
Nalcn |
T |
A |
14: 123,555,255 (GRCm39) |
H876L |
probably benign |
Het |
Ncaph |
A |
T |
2: 126,947,809 (GRCm39) |
I698K |
probably damaging |
Het |
Nipal1 |
A |
T |
5: 72,824,951 (GRCm39) |
I215F |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,100,664 (GRCm39) |
D607E |
possibly damaging |
Het |
Nt5dc2 |
T |
C |
14: 30,857,662 (GRCm39) |
F217S |
probably damaging |
Het |
Ntsr2 |
T |
A |
12: 16,706,697 (GRCm39) |
S156T |
probably benign |
Het |
Or13c9 |
A |
T |
4: 52,935,500 (GRCm39) |
I261N |
probably damaging |
Het |
Or5b110-ps1 |
A |
C |
19: 13,259,728 (GRCm39) |
D231E |
probably benign |
Het |
Or5p4 |
A |
C |
7: 107,680,762 (GRCm39) |
T254P |
probably benign |
Het |
Pfas |
A |
T |
11: 68,881,283 (GRCm39) |
I1028K |
probably benign |
Het |
Pnpla5 |
C |
A |
15: 83,999,912 (GRCm39) |
R329L |
possibly damaging |
Het |
Pramel30 |
T |
C |
4: 144,058,218 (GRCm39) |
V275A |
probably benign |
Het |
Rhot2 |
A |
G |
17: 26,058,394 (GRCm39) |
V393A |
possibly damaging |
Het |
Rigi |
T |
A |
4: 40,205,947 (GRCm39) |
T882S |
probably benign |
Het |
Rnase9 |
T |
A |
14: 51,276,684 (GRCm39) |
Y98F |
possibly damaging |
Het |
Sacs |
C |
A |
14: 61,440,410 (GRCm39) |
L819I |
probably damaging |
Het |
Sall3 |
C |
T |
18: 81,016,403 (GRCm39) |
M508I |
possibly damaging |
Het |
Scube3 |
G |
A |
17: 28,381,362 (GRCm39) |
C301Y |
probably damaging |
Het |
Sgo2b |
G |
T |
8: 64,380,538 (GRCm39) |
H765N |
probably benign |
Het |
Sh3gl1 |
A |
T |
17: 56,324,617 (GRCm39) |
Y344N |
possibly damaging |
Het |
Slc15a2 |
A |
G |
16: 36,572,683 (GRCm39) |
V635A |
probably benign |
Het |
Slc1a4 |
T |
A |
11: 20,282,114 (GRCm39) |
Y40F |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,117,305 (GRCm39) |
K755* |
probably null |
Het |
Slco1a5 |
C |
T |
6: 142,212,121 (GRCm39) |
G38R |
probably damaging |
Het |
Snx25 |
T |
A |
8: 46,508,892 (GRCm39) |
D564V |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,486,018 (GRCm39) |
D189E |
probably benign |
Het |
Ssbp2 |
A |
G |
13: 91,841,170 (GRCm39) |
I317V |
probably benign |
Het |
Stil |
AAGATTTCCAG |
A |
4: 114,889,911 (GRCm39) |
|
probably null |
Het |
Strn3 |
A |
T |
12: 51,689,881 (GRCm39) |
|
probably null |
Het |
Tcaf2 |
A |
T |
6: 42,619,953 (GRCm39) |
F25I |
probably benign |
Het |
Themis |
C |
T |
10: 28,657,894 (GRCm39) |
T154I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,626,390 (GRCm39) |
R13176G |
probably damaging |
Het |
Utp4 |
G |
A |
8: 107,625,095 (GRCm39) |
V125M |
probably damaging |
Het |
Vmn1r119 |
T |
A |
7: 20,745,777 (GRCm39) |
M202L |
possibly damaging |
Het |
Zfp292 |
G |
C |
4: 34,816,301 (GRCm39) |
F329L |
probably benign |
Het |
Zfp541 |
C |
T |
7: 15,829,445 (GRCm39) |
P1281L |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,973,968 (GRCm39) |
Q79L |
possibly damaging |
Het |
|
Other mutations in Sptbn5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00323:Sptbn5
|
APN |
2 |
119,884,948 (GRCm39) |
unclassified |
probably benign |
|
IGL01552:Sptbn5
|
APN |
2 |
119,884,903 (GRCm39) |
unclassified |
probably benign |
|
IGL01800:Sptbn5
|
APN |
2 |
119,886,908 (GRCm39) |
unclassified |
probably benign |
|
IGL02156:Sptbn5
|
APN |
2 |
119,878,098 (GRCm39) |
unclassified |
probably benign |
|
R0020:Sptbn5
|
UTSW |
2 |
119,896,112 (GRCm39) |
missense |
probably damaging |
0.96 |
R0690:Sptbn5
|
UTSW |
2 |
119,893,156 (GRCm39) |
splice site |
probably null |
|
R1121:Sptbn5
|
UTSW |
2 |
119,899,871 (GRCm39) |
splice site |
probably null |
|
R1223:Sptbn5
|
UTSW |
2 |
119,902,525 (GRCm39) |
missense |
probably damaging |
0.99 |
R1405:Sptbn5
|
UTSW |
2 |
119,881,097 (GRCm39) |
splice site |
noncoding transcript |
|
R1852:Sptbn5
|
UTSW |
2 |
119,902,125 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1927:Sptbn5
|
UTSW |
2 |
119,900,943 (GRCm39) |
missense |
probably benign |
0.00 |
R2570:Sptbn5
|
UTSW |
2 |
119,879,121 (GRCm39) |
exon |
noncoding transcript |
|
R3898:Sptbn5
|
UTSW |
2 |
119,887,691 (GRCm39) |
exon |
noncoding transcript |
|
R3976:Sptbn5
|
UTSW |
2 |
119,878,742 (GRCm39) |
splice site |
noncoding transcript |
|
R4092:Sptbn5
|
UTSW |
2 |
119,897,532 (GRCm39) |
missense |
probably damaging |
0.99 |
R4119:Sptbn5
|
UTSW |
2 |
119,895,010 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4120:Sptbn5
|
UTSW |
2 |
119,895,010 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4351:Sptbn5
|
UTSW |
2 |
119,913,680 (GRCm39) |
exon |
noncoding transcript |
|
R4352:Sptbn5
|
UTSW |
2 |
119,913,680 (GRCm39) |
exon |
noncoding transcript |
|
R4364:Sptbn5
|
UTSW |
2 |
119,899,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R4371:Sptbn5
|
UTSW |
2 |
119,896,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R4606:Sptbn5
|
UTSW |
2 |
119,897,927 (GRCm39) |
splice site |
probably null |
|
R4616:Sptbn5
|
UTSW |
2 |
119,879,238 (GRCm39) |
exon |
noncoding transcript |
|
R4687:Sptbn5
|
UTSW |
2 |
119,907,689 (GRCm39) |
unclassified |
probably benign |
|
R4693:Sptbn5
|
UTSW |
2 |
119,889,897 (GRCm39) |
unclassified |
probably benign |
|
R4762:Sptbn5
|
UTSW |
2 |
119,907,703 (GRCm39) |
unclassified |
noncoding transcript |
|
R4798:Sptbn5
|
UTSW |
2 |
119,889,622 (GRCm39) |
unclassified |
probably benign |
|
R4818:Sptbn5
|
UTSW |
2 |
119,898,449 (GRCm39) |
missense |
probably benign |
0.05 |
R4822:Sptbn5
|
UTSW |
2 |
119,898,449 (GRCm39) |
missense |
probably benign |
0.05 |
R4825:Sptbn5
|
UTSW |
2 |
119,886,374 (GRCm39) |
unclassified |
probably benign |
|
R4933:Sptbn5
|
UTSW |
2 |
119,880,601 (GRCm39) |
exon |
noncoding transcript |
|
R4970:Sptbn5
|
UTSW |
2 |
119,882,258 (GRCm39) |
exon |
noncoding transcript |
|
R5141:Sptbn5
|
UTSW |
2 |
119,892,212 (GRCm39) |
missense |
probably benign |
0.03 |
R5209:Sptbn5
|
UTSW |
2 |
119,902,483 (GRCm39) |
missense |
probably benign |
0.09 |
R5225:Sptbn5
|
UTSW |
2 |
119,915,812 (GRCm39) |
unclassified |
probably benign |
|
R5227:Sptbn5
|
UTSW |
2 |
119,915,812 (GRCm39) |
unclassified |
probably benign |
|
R5421:Sptbn5
|
UTSW |
2 |
119,911,261 (GRCm39) |
critical splice donor site |
noncoding transcript |
|
R5495:Sptbn5
|
UTSW |
2 |
119,876,965 (GRCm39) |
unclassified |
probably benign |
|
R5498:Sptbn5
|
UTSW |
2 |
119,907,119 (GRCm39) |
unclassified |
probably benign |
|
R5511:Sptbn5
|
UTSW |
2 |
119,890,202 (GRCm39) |
unclassified |
probably benign |
|
R5596:Sptbn5
|
UTSW |
2 |
119,876,965 (GRCm39) |
unclassified |
probably benign |
|
R5616:Sptbn5
|
UTSW |
2 |
119,876,965 (GRCm39) |
unclassified |
probably benign |
|
R5617:Sptbn5
|
UTSW |
2 |
119,876,965 (GRCm39) |
unclassified |
probably benign |
|
R5619:Sptbn5
|
UTSW |
2 |
119,880,613 (GRCm39) |
exon |
noncoding transcript |
|
R5625:Sptbn5
|
UTSW |
2 |
119,910,273 (GRCm39) |
exon |
noncoding transcript |
|
R5636:Sptbn5
|
UTSW |
2 |
119,887,885 (GRCm39) |
unclassified |
probably benign |
|
R5646:Sptbn5
|
UTSW |
2 |
119,879,292 (GRCm39) |
splice site |
noncoding transcript |
|
R5666:Sptbn5
|
UTSW |
2 |
119,916,048 (GRCm39) |
unclassified |
probably benign |
|
R5670:Sptbn5
|
UTSW |
2 |
119,916,048 (GRCm39) |
unclassified |
probably benign |
|
R5715:Sptbn5
|
UTSW |
2 |
119,902,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R5774:Sptbn5
|
UTSW |
2 |
119,880,939 (GRCm39) |
exon |
noncoding transcript |
|
R5885:Sptbn5
|
UTSW |
2 |
119,907,144 (GRCm39) |
unclassified |
probably benign |
|
R6016:Sptbn5
|
UTSW |
2 |
119,880,573 (GRCm39) |
exon |
noncoding transcript |
|
R6183:Sptbn5
|
UTSW |
2 |
119,889,898 (GRCm39) |
unclassified |
probably benign |
|
R6184:Sptbn5
|
UTSW |
2 |
119,889,898 (GRCm39) |
unclassified |
probably benign |
|
R6219:Sptbn5
|
UTSW |
2 |
119,907,803 (GRCm39) |
unclassified |
probably benign |
|
R6335:Sptbn5
|
UTSW |
2 |
119,884,900 (GRCm39) |
unclassified |
probably benign |
|
R6383:Sptbn5
|
UTSW |
2 |
119,876,750 (GRCm39) |
unclassified |
probably benign |
|
R6450:Sptbn5
|
UTSW |
2 |
119,877,616 (GRCm39) |
unclassified |
probably benign |
|
R6516:Sptbn5
|
UTSW |
2 |
119,878,431 (GRCm39) |
unclassified |
probably benign |
|
R6657:Sptbn5
|
UTSW |
2 |
119,906,881 (GRCm39) |
unclassified |
probably benign |
|
R6661:Sptbn5
|
UTSW |
2 |
119,902,856 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8208:Sptbn5
|
UTSW |
2 |
119,878,326 (GRCm39) |
nonsense |
noncoding transcript |
|
R8261:Sptbn5
|
UTSW |
2 |
119,877,616 (GRCm39) |
missense |
noncoding transcript |
|
R8300:Sptbn5
|
UTSW |
2 |
119,878,058 (GRCm39) |
missense |
noncoding transcript |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACGAATGCGAATCAGGCTCC -3'
(R):5'- TGAAGGGTCCCAGGTAAGATCAAC -3'
Sequencing Primer
(F):5'- CAGATGGTGATACACTCCTGAGTC -3'
(R):5'- CAGGGCAAGTCACTGTCATTC -3'
|
Posted On |
2018-06-06 |