Incidental Mutation 'R0905:Epb41l4b'
| ID |
83278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb41l4b
|
| Ensembl Gene |
ENSMUSG00000028434 |
| Gene Name |
erythrocyte membrane protein band 4.1 like 4b |
| Synonyms |
Ehm2, 6430543G08Rik, Epb4.1l4b, Lulu2, D4Ertd346e |
| MMRRC Submission |
039063-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0905 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
56991972-57143437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57103528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 103
(K103E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030142]
[ENSMUST00000095076]
|
| AlphaFold |
Q9JMC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030142
AA Change: K103E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030142
Gene: ENSMUSG00000028434
AA Change: K103E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
B41
|
81 |
277 |
4.09e-69 |
SMART |
|
FERM_C
|
281 |
373 |
1.76e-35 |
SMART |
|
FA
|
378 |
422 |
2.86e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095076
AA Change: K103E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092687
Gene: ENSMUSG00000028434
AA Change: K103E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
B41
|
81 |
277 |
4.09e-69 |
SMART |
|
FERM_C
|
281 |
373 |
1.76e-35 |
SMART |
|
FA
|
378 |
422 |
2.86e-12 |
SMART |
|
low complexity region
|
504 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136337
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149109
|
| Meta Mutation Damage Score |
0.4131 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.6%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
G |
A |
2: 20,854,745 (GRCm39) |
T1539M |
possibly damaging |
Het |
| Birc2 |
A |
T |
9: 7,851,052 (GRCm39) |
*138R |
probably null |
Het |
| Bsn |
C |
A |
9: 107,982,834 (GRCm39) |
D3640Y |
unknown |
Het |
| Bsph1 |
A |
T |
7: 13,184,839 (GRCm39) |
M1L |
probably benign |
Het |
| Cdkl1 |
A |
T |
12: 69,803,338 (GRCm39) |
Y179* |
probably null |
Het |
| Cfap74 |
G |
A |
4: 155,503,153 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
A |
T |
8: 70,843,905 (GRCm39) |
S454T |
probably damaging |
Het |
| Cspg5 |
A |
T |
9: 110,075,594 (GRCm39) |
D110V |
probably damaging |
Het |
| Cyp2w1 |
A |
T |
5: 139,342,194 (GRCm39) |
Y380F |
probably benign |
Het |
| Dbn1 |
T |
C |
13: 55,622,040 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
C |
T |
6: 137,491,305 (GRCm39) |
V358I |
probably benign |
Het |
| Gm12253 |
G |
T |
11: 58,330,846 (GRCm39) |
|
probably benign |
Het |
| Hltf |
T |
A |
3: 20,163,033 (GRCm39) |
|
probably null |
Het |
| Hsd17b11 |
C |
T |
5: 104,157,744 (GRCm39) |
V123I |
probably benign |
Het |
| Il31ra |
T |
A |
13: 112,668,207 (GRCm39) |
E481V |
probably damaging |
Het |
| Impdh2 |
A |
G |
9: 108,438,296 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
| Kndc1 |
A |
C |
7: 139,503,651 (GRCm39) |
K985T |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,242,824 (GRCm39) |
Y302F |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,174,197 (GRCm39) |
S1541P |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,907,292 (GRCm39) |
M528T |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,063,922 (GRCm39) |
|
probably null |
Het |
| Nwd1 |
G |
A |
8: 73,436,077 (GRCm39) |
V1436M |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,900,230 (GRCm39) |
R109* |
probably null |
Het |
| Pml |
A |
G |
9: 58,156,822 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
T |
C |
10: 106,655,372 (GRCm39) |
I313T |
probably benign |
Het |
| Prdm14 |
C |
T |
1: 13,195,662 (GRCm39) |
G133D |
probably benign |
Het |
| Ptgr3 |
A |
G |
18: 84,113,332 (GRCm39) |
H336R |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,257,791 (GRCm39) |
|
probably benign |
Het |
| Rassf10 |
C |
T |
7: 112,554,575 (GRCm39) |
T392M |
probably damaging |
Het |
| Rpe65 |
T |
C |
3: 159,307,220 (GRCm39) |
S54P |
possibly damaging |
Het |
| Sema5b |
T |
C |
16: 35,443,001 (GRCm39) |
V2A |
probably benign |
Het |
| Sgsm3 |
T |
C |
15: 80,895,546 (GRCm39) |
I699T |
probably damaging |
Het |
| Spn |
T |
C |
7: 126,735,503 (GRCm39) |
T335A |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,250,290 (GRCm39) |
D1834G |
probably damaging |
Het |
| Trp53bp1 |
C |
A |
2: 121,034,799 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
A |
T |
16: 94,257,648 (GRCm39) |
K1652* |
probably null |
Het |
|
| Other mutations in Epb41l4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02141:Epb41l4b
|
APN |
4 |
57,103,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02311:Epb41l4b
|
APN |
4 |
57,076,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Episode
|
UTSW |
4 |
57,142,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0456:Epb41l4b
|
UTSW |
4 |
57,142,843 (GRCm39) |
splice site |
probably null |
|
|
R0799:Epb41l4b
|
UTSW |
4 |
57,086,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Epb41l4b
|
UTSW |
4 |
57,077,252 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1208:Epb41l4b
|
UTSW |
4 |
57,077,252 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1506:Epb41l4b
|
UTSW |
4 |
57,088,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Epb41l4b
|
UTSW |
4 |
57,032,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1919:Epb41l4b
|
UTSW |
4 |
57,040,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1956:Epb41l4b
|
UTSW |
4 |
57,038,553 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2041:Epb41l4b
|
UTSW |
4 |
57,084,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2048:Epb41l4b
|
UTSW |
4 |
57,142,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3434:Epb41l4b
|
UTSW |
4 |
57,040,865 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4059:Epb41l4b
|
UTSW |
4 |
57,024,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4175:Epb41l4b
|
UTSW |
4 |
57,076,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4694:Epb41l4b
|
UTSW |
4 |
57,019,875 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4817:Epb41l4b
|
UTSW |
4 |
57,103,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Epb41l4b
|
UTSW |
4 |
57,040,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5179:Epb41l4b
|
UTSW |
4 |
57,063,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5246:Epb41l4b
|
UTSW |
4 |
57,040,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5530:Epb41l4b
|
UTSW |
4 |
57,086,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Epb41l4b
|
UTSW |
4 |
57,064,802 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5784:Epb41l4b
|
UTSW |
4 |
57,086,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6772:Epb41l4b
|
UTSW |
4 |
57,063,140 (GRCm39) |
missense |
probably benign |
|
|
R6965:Epb41l4b
|
UTSW |
4 |
57,040,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Epb41l4b
|
UTSW |
4 |
57,103,522 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7316:Epb41l4b
|
UTSW |
4 |
57,019,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7750:Epb41l4b
|
UTSW |
4 |
57,076,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7954:Epb41l4b
|
UTSW |
4 |
57,088,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Epb41l4b
|
UTSW |
4 |
57,041,064 (GRCm39) |
splice site |
probably null |
|
|
R9085:Epb41l4b
|
UTSW |
4 |
57,041,064 (GRCm39) |
splice site |
probably null |
|
|
R9130:Epb41l4b
|
UTSW |
4 |
57,103,447 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9386:Epb41l4b
|
UTSW |
4 |
57,076,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Epb41l4b
|
UTSW |
4 |
57,063,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTTGGGCACCACCAGCATC -3'
(R):5'- ATTCATGCTCCGTCTACGGACCAC -3'
Sequencing Primer
(F):5'- CAATTGCCAAGCTCATTACTGG -3'
(R):5'- tcagaaatccgcctgcc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation