Incidental Mutation 'R5715:Sptbn5'
ID |
451086 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sptbn5
|
Ensembl Gene |
ENSMUSG00000074899 |
Gene Name |
spectrin beta, non-erythrocytic 5 |
Synonyms |
Spnb5, EG640524 |
MMRRC Submission |
043336-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
R5715 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
119871974-119916159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119902985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 7
(E7G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106384
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110756]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110756
AA Change: E7G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106384 Gene: ENSMUSG00000074899 AA Change: E7G
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: ENSMUST00000134935
|
SMART Domains |
Protein: ENSMUSP00000116766 Gene: ENSMUSG00000074899
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
CH
|
53 |
154 |
1.9e-16 |
SMART |
CH
|
176 |
274 |
3.02e-19 |
SMART |
SPEC
|
306 |
412 |
8.64e-1 |
SMART |
SPEC
|
426 |
527 |
3.85e-6 |
SMART |
SPEC
|
533 |
632 |
1.38e-7 |
SMART |
SPEC
|
638 |
738 |
9.46e-15 |
SMART |
coiled coil region
|
780 |
809 |
N/A |
INTRINSIC |
|
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
T |
A |
11: 48,910,777 (GRCm39) |
Y552F |
probably damaging |
Het |
Asprv1 |
T |
A |
6: 86,605,596 (GRCm39) |
D147E |
probably benign |
Het |
Atg4c |
G |
T |
4: 99,146,639 (GRCm39) |
L405F |
probably damaging |
Het |
Birc6 |
C |
T |
17: 74,938,615 (GRCm39) |
L2670F |
probably damaging |
Het |
Cdc20 |
T |
C |
4: 118,292,015 (GRCm39) |
D379G |
probably damaging |
Het |
Chd6 |
T |
C |
2: 160,791,798 (GRCm39) |
M2520V |
probably benign |
Het |
Clca4b |
A |
G |
3: 144,619,018 (GRCm39) |
V707A |
probably benign |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,523,347 (GRCm39) |
C2743* |
probably null |
Het |
Coq6 |
C |
A |
12: 84,413,681 (GRCm39) |
D70E |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,798,335 (GRCm39) |
V1450D |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,452,937 (GRCm39) |
L3847P |
probably damaging |
Het |
Drd2 |
T |
A |
9: 49,316,189 (GRCm39) |
H316Q |
probably benign |
Het |
Dusp19 |
T |
A |
2: 80,461,330 (GRCm39) |
N206K |
probably benign |
Het |
Fam13c |
T |
G |
10: 70,370,670 (GRCm39) |
F270C |
probably damaging |
Het |
Fam20a |
T |
C |
11: 109,569,257 (GRCm39) |
E246G |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,305,302 (GRCm39) |
F65L |
probably damaging |
Het |
Fshr |
T |
A |
17: 89,293,824 (GRCm39) |
|
probably null |
Het |
Fstl4 |
T |
C |
11: 52,891,243 (GRCm39) |
V127A |
possibly damaging |
Het |
Gdpd4 |
A |
T |
7: 97,610,804 (GRCm39) |
I75F |
probably benign |
Het |
Grm5 |
C |
A |
7: 87,779,464 (GRCm39) |
A968E |
probably benign |
Het |
Gucy2g |
A |
C |
19: 55,221,587 (GRCm39) |
F305V |
possibly damaging |
Het |
Hivep3 |
T |
C |
4: 119,953,570 (GRCm39) |
F629L |
probably benign |
Het |
Hoxb1 |
A |
G |
11: 96,257,152 (GRCm39) |
E167G |
probably benign |
Het |
Hoxd4 |
T |
C |
2: 74,557,708 (GRCm39) |
L29P |
probably damaging |
Het |
Ikbkb |
A |
G |
8: 23,168,866 (GRCm39) |
L211P |
probably damaging |
Het |
Insc |
T |
C |
7: 114,449,076 (GRCm39) |
V499A |
probably benign |
Het |
Irak3 |
A |
T |
10: 119,978,641 (GRCm39) |
H511Q |
possibly damaging |
Het |
Itpripl1 |
T |
C |
2: 126,983,927 (GRCm39) |
E65G |
probably damaging |
Het |
Lurap1l |
T |
A |
4: 80,871,958 (GRCm39) |
S150R |
possibly damaging |
Het |
Mab21l3 |
C |
T |
3: 101,730,723 (GRCm39) |
R172Q |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,577,807 (GRCm39) |
D59G |
probably damaging |
Het |
Mettl21a |
A |
T |
1: 64,654,314 (GRCm39) |
S68T |
probably benign |
Het |
Mlxip |
T |
A |
5: 123,578,121 (GRCm39) |
W146R |
probably damaging |
Het |
Mpp2 |
T |
A |
11: 101,953,087 (GRCm39) |
N285I |
probably damaging |
Het |
Mrgprb4 |
T |
C |
7: 47,848,787 (GRCm39) |
N47S |
probably damaging |
Het |
Msi2 |
A |
G |
11: 88,276,889 (GRCm39) |
Y237H |
probably damaging |
Het |
Muc4 |
C |
T |
16: 32,570,734 (GRCm39) |
T598I |
possibly damaging |
Het |
Musk |
A |
T |
4: 58,333,663 (GRCm39) |
I253F |
probably damaging |
Het |
Myo5b |
G |
T |
18: 74,875,246 (GRCm39) |
C1550F |
possibly damaging |
Het |
Nckap5l |
T |
C |
15: 99,321,457 (GRCm39) |
T1137A |
probably benign |
Het |
Neb |
T |
C |
2: 52,141,780 (GRCm39) |
D3009G |
probably damaging |
Het |
Nxph1 |
T |
A |
6: 9,247,740 (GRCm39) |
V237E |
probably damaging |
Het |
Or52a33 |
A |
C |
7: 103,289,009 (GRCm39) |
S113A |
probably damaging |
Het |
Pla2g12a |
A |
G |
3: 129,688,591 (GRCm39) |
K150E |
probably damaging |
Het |
Potegl |
T |
C |
2: 23,097,989 (GRCm39) |
Y56H |
possibly damaging |
Het |
Pramel30 |
A |
G |
4: 144,057,870 (GRCm39) |
D159G |
possibly damaging |
Het |
Ptpn23 |
G |
A |
9: 110,216,143 (GRCm39) |
R1238W |
probably damaging |
Het |
Pts |
C |
T |
9: 50,433,578 (GRCm39) |
G124R |
probably damaging |
Het |
Rfk |
A |
T |
19: 17,376,002 (GRCm39) |
I99F |
probably benign |
Het |
Rictor |
A |
T |
15: 6,780,197 (GRCm39) |
R151* |
probably null |
Het |
Scn2a |
T |
A |
2: 65,547,928 (GRCm39) |
I1040N |
probably benign |
Het |
Serinc5 |
A |
C |
13: 92,842,710 (GRCm39) |
T387P |
probably damaging |
Het |
Sh3bp5l |
A |
G |
11: 58,236,841 (GRCm39) |
Q266R |
possibly damaging |
Het |
Slc14a2 |
T |
C |
18: 78,201,551 (GRCm39) |
Y656C |
probably damaging |
Het |
Slc26a3 |
T |
A |
12: 31,498,842 (GRCm39) |
|
probably null |
Het |
Slc3a2 |
G |
T |
19: 8,685,594 (GRCm39) |
H168Q |
probably benign |
Het |
Smarca2 |
A |
T |
19: 26,626,522 (GRCm39) |
I449L |
probably benign |
Het |
Smarcc1 |
T |
C |
9: 110,025,435 (GRCm39) |
V704A |
possibly damaging |
Het |
Sox13 |
A |
G |
1: 133,313,921 (GRCm39) |
|
probably null |
Het |
Stard10 |
A |
G |
7: 100,971,110 (GRCm39) |
D26G |
probably damaging |
Het |
Tap1 |
A |
T |
17: 34,411,868 (GRCm39) |
R91* |
probably null |
Het |
Tgfbrap1 |
A |
T |
1: 43,099,097 (GRCm39) |
V239D |
possibly damaging |
Het |
Tmem209 |
A |
T |
6: 30,497,922 (GRCm39) |
Y124* |
probably null |
Het |
Tmprss2 |
T |
A |
16: 97,370,183 (GRCm39) |
E327V |
possibly damaging |
Het |
Ttbk1 |
T |
C |
17: 46,790,133 (GRCm39) |
Y104C |
probably damaging |
Het |
Ttll10 |
A |
T |
4: 156,129,848 (GRCm39) |
F154I |
probably damaging |
Het |
Ubn2 |
T |
A |
6: 38,438,412 (GRCm39) |
Y40* |
probably null |
Het |
Ubr5 |
A |
T |
15: 38,002,477 (GRCm39) |
S1519T |
probably benign |
Het |
Ugt3a1 |
A |
C |
15: 9,306,430 (GRCm39) |
D193A |
probably damaging |
Het |
Upf1 |
A |
T |
8: 70,805,628 (GRCm39) |
Y6N |
probably damaging |
Het |
Vmn2r103 |
A |
T |
17: 20,015,201 (GRCm39) |
D447V |
probably benign |
Het |
Vps39 |
T |
C |
2: 120,155,717 (GRCm39) |
N519S |
possibly damaging |
Het |
Zfp109 |
T |
C |
7: 23,928,995 (GRCm39) |
E138G |
possibly damaging |
Het |
Znrf3 |
A |
C |
11: 5,236,239 (GRCm39) |
V157G |
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 |
|
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 |
|
R6523:Sptbn5
|
UTSW |
2 |
119,896,095 (GRCm39) |
splice site |
probably null |
|
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'- TGGTGGAAACTCTGGTCTCC -3'
(R):5'- TGAAGCCCCTGGAGCAAATAAG -3'
Sequencing Primer
(F):5'- GGTGGAAACTCTGGTCTCCATTAC -3'
(R):5'- CCAAAAGGGTCTGTCATGACATCTG -3'
|
Posted On |
2017-01-03 |