Incidental Mutation 'R2085:2810408A11Rik'
| ID |
230275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2810408A11Rik
|
| Ensembl Gene |
ENSMUSG00000018570 |
| Gene Name |
RIKEN cDNA 2810408A11 gene |
| Synonyms |
|
| MMRRC Submission |
040090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R2085 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69788178-69791813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 69791198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 127
(T127K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001631]
[ENSMUST00000018714]
[ENSMUST00000061837]
[ENSMUST00000100969]
[ENSMUST00000102580]
[ENSMUST00000108617]
[ENSMUST00000108621]
[ENSMUST00000144431]
[ENSMUST00000129234]
[ENSMUST00000177476]
[ENSMUST00000129475]
[ENSMUST00000133203]
[ENSMUST00000128046]
[ENSMUST00000177138]
|
| AlphaFold |
Q6NSU2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001631
|
| SMART Domains |
Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
5 |
240 |
2.1e-68 |
PFAM |
|
PH
|
266 |
362 |
4.42e-15 |
SMART |
|
ArfGap
|
405 |
527 |
2.42e-50 |
SMART |
|
ANK
|
606 |
635 |
4.01e0 |
SMART |
|
ANK
|
639 |
668 |
3.04e0 |
SMART |
|
ANK
|
672 |
702 |
4.18e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018714
AA Change: T127K
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000018714
Gene: ENSMUSG00000018570
AA Change: T127K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
Pfam:IPP-2
|
150 |
277 |
1.3e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061837
|
| SMART Domains |
Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
|
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
|
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
|
NEUZ
|
317 |
442 |
7.22e-52 |
SMART |
|
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
|
NEUZ
|
520 |
644 |
6.15e-46 |
SMART |
|
low complexity region
|
686 |
700 |
N/A |
INTRINSIC |
|
NEUZ
|
716 |
840 |
7.81e-39 |
SMART |
|
NEUZ
|
913 |
1043 |
2.27e-17 |
SMART |
|
low complexity region
|
1108 |
1117 |
N/A |
INTRINSIC |
|
NEUZ
|
1130 |
1250 |
4.93e-6 |
SMART |
|
low complexity region
|
1453 |
1464 |
N/A |
INTRINSIC |
|
low complexity region
|
1474 |
1483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100969
AA Change: T127K
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098529
Gene: ENSMUSG00000018570
AA Change: T127K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
Pfam:IPP-2
|
150 |
272 |
5.7e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102580
AA Change: T127K
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099640
Gene: ENSMUSG00000018570
AA Change: T127K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
Pfam:IPP-2
|
153 |
270 |
6.2e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108617
|
| SMART Domains |
Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
|
NEUZ
|
47 |
165 |
3.5e-31 |
SMART |
|
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
|
NEUZ
|
295 |
420 |
2.5e-54 |
SMART |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
NEUZ
|
498 |
622 |
2e-48 |
SMART |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
NEUZ
|
694 |
818 |
2.6e-41 |
SMART |
|
NEUZ
|
891 |
1021 |
7.6e-20 |
SMART |
|
low complexity region
|
1086 |
1095 |
N/A |
INTRINSIC |
|
NEUZ
|
1108 |
1228 |
1.7e-8 |
SMART |
|
low complexity region
|
1431 |
1442 |
N/A |
INTRINSIC |
|
low complexity region
|
1452 |
1461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108621
AA Change: T127K
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104261
Gene: ENSMUSG00000018570
AA Change: T127K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
Pfam:IPP-2
|
150 |
277 |
1.3e-44 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144431
AA Change: T127K
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135926
Gene: ENSMUSG00000018570
AA Change: T127K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129234
AA Change: T127K
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136835
Gene: ENSMUSG00000018570
AA Change: T127K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175742
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177476
|
| SMART Domains |
Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
|
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
|
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
|
NEUZ
|
317 |
442 |
7.22e-52 |
SMART |
|
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
|
NEUZ
|
520 |
644 |
6.15e-46 |
SMART |
|
low complexity region
|
686 |
700 |
N/A |
INTRINSIC |
|
NEUZ
|
716 |
840 |
7.81e-39 |
SMART |
|
NEUZ
|
911 |
1041 |
2.27e-17 |
SMART |
|
low complexity region
|
1106 |
1115 |
N/A |
INTRINSIC |
|
NEUZ
|
1128 |
1248 |
4.93e-6 |
SMART |
|
low complexity region
|
1451 |
1462 |
N/A |
INTRINSIC |
|
low complexity region
|
1472 |
1481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129475
|
| SMART Domains |
Protein: ENSMUSP00000135733
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
NEUZ
|
1 |
119 |
4.22e-44 |
SMART |
|
low complexity region
|
169 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
206 |
246 |
1.46e-10 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133203
|
| SMART Domains |
Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
NEUZ
|
60 |
185 |
7.22e-52 |
SMART |
|
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
NEUZ
|
263 |
387 |
6.15e-46 |
SMART |
|
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
|
NEUZ
|
459 |
583 |
7.81e-39 |
SMART |
|
NEUZ
|
656 |
786 |
2.27e-17 |
SMART |
|
low complexity region
|
851 |
860 |
N/A |
INTRINSIC |
|
Pfam:Neuralized
|
875 |
942 |
6.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128046
|
| SMART Domains |
Protein: ENSMUSP00000137547
Gene: ENSMUSG00000018570
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IPP-2
|
1 |
77 |
1.7e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177138
|
| SMART Domains |
Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
|
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
|
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
|
NEUZ
|
295 |
420 |
7.22e-52 |
SMART |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
NEUZ
|
498 |
622 |
6.15e-46 |
SMART |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
NEUZ
|
694 |
818 |
7.81e-39 |
SMART |
|
NEUZ
|
889 |
1019 |
2.27e-17 |
SMART |
|
low complexity region
|
1084 |
1093 |
N/A |
INTRINSIC |
|
NEUZ
|
1106 |
1226 |
4.93e-6 |
SMART |
|
low complexity region
|
1429 |
1440 |
N/A |
INTRINSIC |
|
low complexity region
|
1450 |
1459 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
G |
6: 121,653,918 (GRCm39) |
I1417S |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,787,523 (GRCm39) |
I142T |
possibly damaging |
Het |
| Adprm |
T |
A |
11: 66,932,678 (GRCm39) |
D77V |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,062,240 (GRCm39) |
T3574I |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,178,908 (GRCm39) |
K2489R |
probably damaging |
Het |
| Bub1b |
A |
G |
2: 118,452,676 (GRCm39) |
E443G |
possibly damaging |
Het |
| Cd9 |
A |
T |
6: 125,440,734 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
G |
A |
9: 71,538,160 (GRCm39) |
T1194M |
probably damaging |
Het |
| Clec9a |
T |
C |
6: 129,387,274 (GRCm39) |
V43A |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
| Dpep3 |
A |
G |
8: 106,701,346 (GRCm39) |
V401A |
probably damaging |
Het |
| Duox2 |
G |
T |
2: 122,111,448 (GRCm39) |
H1417N |
probably damaging |
Het |
| Efhb |
C |
T |
17: 53,733,937 (GRCm39) |
|
probably null |
Het |
| F2r |
T |
C |
13: 95,741,418 (GRCm39) |
N39S |
probably benign |
Het |
| Fcamr |
T |
C |
1: 130,739,335 (GRCm39) |
F212L |
probably damaging |
Het |
| Galt |
G |
A |
4: 41,758,162 (GRCm39) |
R309Q |
probably damaging |
Het |
| Gas2l2 |
C |
A |
11: 83,318,209 (GRCm39) |
A167S |
probably benign |
Het |
| Hecw1 |
A |
T |
13: 14,438,672 (GRCm39) |
F904I |
possibly damaging |
Het |
| Herc2 |
C |
A |
7: 55,862,713 (GRCm39) |
H4127Q |
possibly damaging |
Het |
| Hipk1 |
T |
C |
3: 103,657,670 (GRCm39) |
T805A |
probably benign |
Het |
| Hivep1 |
A |
G |
13: 42,337,226 (GRCm39) |
E2435G |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,015,273 (GRCm39) |
C1813* |
probably null |
Het |
| Hyal4 |
C |
T |
6: 24,755,749 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,678,903 (GRCm39) |
Y311C |
probably damaging |
Het |
| Itih4 |
A |
G |
14: 30,614,280 (GRCm39) |
Y410C |
possibly damaging |
Het |
| Lama2 |
A |
T |
10: 27,080,837 (GRCm39) |
C995* |
probably null |
Het |
| Lingo4 |
C |
A |
3: 94,309,552 (GRCm39) |
D163E |
probably damaging |
Het |
| Malt1 |
A |
G |
18: 65,606,218 (GRCm39) |
D642G |
probably damaging |
Het |
| Mbd4 |
T |
A |
6: 115,825,918 (GRCm39) |
M358L |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,169,323 (GRCm39) |
F1498Y |
possibly damaging |
Het |
| Me1 |
T |
C |
9: 86,495,607 (GRCm39) |
Q280R |
probably damaging |
Het |
| Megf9 |
T |
C |
4: 70,367,004 (GRCm39) |
H326R |
probably damaging |
Het |
| Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
| Or13p10 |
T |
C |
4: 118,523,301 (GRCm39) |
S196P |
probably damaging |
Het |
| Or1e1 |
T |
C |
11: 73,245,247 (GRCm39) |
S223P |
possibly damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
| Or5h18 |
C |
T |
16: 58,848,232 (GRCm39) |
V13I |
probably benign |
Het |
| Or8b1c |
A |
G |
9: 38,384,223 (GRCm39) |
Y60C |
probably damaging |
Het |
| Polr2j |
T |
C |
5: 136,145,625 (GRCm39) |
F7L |
probably damaging |
Het |
| Ppp1r16a |
T |
A |
15: 76,577,796 (GRCm39) |
D303E |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,353,345 (GRCm39) |
E763G |
probably damaging |
Het |
| Rdh11 |
T |
C |
12: 79,229,556 (GRCm39) |
Y239C |
possibly damaging |
Het |
| Sdhaf3 |
A |
G |
6: 6,956,048 (GRCm39) |
R8G |
probably benign |
Het |
| Sgk2 |
T |
C |
2: 162,854,890 (GRCm39) |
S305P |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,788,587 (GRCm39) |
S1189G |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,790,023 (GRCm39) |
L581P |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,110 (GRCm39) |
Q111R |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,784,108 (GRCm39) |
R775C |
probably damaging |
Het |
| Usp17lb |
T |
A |
7: 104,489,622 (GRCm39) |
Q434L |
possibly damaging |
Het |
| Wdr46 |
G |
T |
17: 34,160,425 (GRCm39) |
E135* |
probably null |
Het |
| Zfp318 |
T |
A |
17: 46,720,590 (GRCm39) |
|
probably null |
Het |
| Zfp874a |
T |
A |
13: 67,590,967 (GRCm39) |
H239L |
probably damaging |
Het |
| Zscan29 |
A |
T |
2: 121,000,427 (GRCm39) |
L60* |
probably null |
Het |
|
| Other mutations in 2810408A11Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0180:2810408A11Rik
|
UTSW |
11 |
69,789,702 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1774:2810408A11Rik
|
UTSW |
11 |
69,791,453 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2034:2810408A11Rik
|
UTSW |
11 |
69,791,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3016:2810408A11Rik
|
UTSW |
11 |
69,790,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4580:2810408A11Rik
|
UTSW |
11 |
69,791,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:2810408A11Rik
|
UTSW |
11 |
69,791,403 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5868:2810408A11Rik
|
UTSW |
11 |
69,788,401 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6129:2810408A11Rik
|
UTSW |
11 |
69,789,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:2810408A11Rik
|
UTSW |
11 |
69,790,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8726:2810408A11Rik
|
UTSW |
11 |
69,789,207 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAAAAGCTGAGTTGCTGC -3'
(R):5'- GCAGTGACCCTCAATTCAGG -3'
Sequencing Primer
(F):5'- AAGCTCTCACCTTTCTTACTCTCTAG -3'
(R):5'- GTGACCCTCAATTCAGGACCCG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation