Incidental Mutation 'R4175:Epb41l4b'
| ID |
318255 |
| 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 |
041013-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4175 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
56991972-57143437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57076556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 326
(V326A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030142]
[ENSMUST00000095076]
|
| AlphaFold |
Q9JMC8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030142
AA Change: V326A
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030142
Gene: ENSMUSG00000028434
AA Change: V326A
| 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: V326A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092687
Gene: ENSMUSG00000028434
AA Change: V326A
| 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: ENSMUST00000136337
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149109
|
| Meta Mutation Damage Score |
0.1639 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd63 |
T |
C |
2: 118,533,100 (GRCm39) |
M274V |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,860,050 (GRCm39) |
D724V |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,779,653 (GRCm39) |
N43S |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,861 (GRCm39) |
H1280R |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,370,057 (GRCm39) |
V139M |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Clmp |
A |
T |
9: 40,682,432 (GRCm39) |
N72I |
probably benign |
Het |
| Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,813,520 (GRCm39) |
F506L |
probably benign |
Het |
| Ctbp1 |
A |
G |
5: 33,424,250 (GRCm39) |
S47P |
probably damaging |
Het |
| Dus1l |
G |
A |
11: 120,686,506 (GRCm39) |
R12C |
possibly damaging |
Het |
| Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
| Fhdc1 |
T |
C |
3: 84,364,294 (GRCm39) |
|
probably benign |
Het |
| Gm27013 |
T |
A |
6: 130,654,110 (GRCm39) |
T451S |
probably benign |
Het |
| Ifi208 |
A |
T |
1: 173,510,267 (GRCm39) |
M141L |
probably benign |
Het |
| Inpp5e |
A |
G |
2: 26,290,937 (GRCm39) |
S377P |
probably damaging |
Het |
| Kat2a |
A |
G |
11: 100,596,092 (GRCm39) |
L822P |
probably damaging |
Het |
| Kcnip2 |
G |
C |
19: 45,800,654 (GRCm39) |
T24S |
probably benign |
Het |
| Med17 |
A |
G |
9: 15,178,765 (GRCm39) |
Y469H |
possibly damaging |
Het |
| Mindy3 |
C |
T |
2: 12,410,676 (GRCm39) |
C77Y |
probably damaging |
Het |
| Mmp1a |
A |
G |
9: 7,467,236 (GRCm39) |
T271A |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,128,020 (GRCm39) |
S118T |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,260,962 (GRCm39) |
D70E |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,882,027 (GRCm39) |
V39D |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,467,829 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,889 (GRCm39) |
K836E |
probably damaging |
Het |
| Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
| Pik3r1 |
A |
T |
13: 101,838,240 (GRCm39) |
L272H |
probably damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,838,241 (GRCm39) |
L272F |
probably benign |
Het |
| Prrc2b |
G |
GCT |
2: 32,108,820 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
G |
10: 107,547,778 (GRCm39) |
I207L |
probably benign |
Het |
| Rasa2 |
G |
T |
9: 96,442,830 (GRCm39) |
T531K |
probably benign |
Het |
| Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,731,416 (GRCm39) |
|
probably benign |
Het |
| Slc7a13 |
G |
A |
4: 19,819,492 (GRCm39) |
G231R |
probably null |
Het |
| Slco3a1 |
T |
A |
7: 73,968,302 (GRCm39) |
N473Y |
probably damaging |
Het |
| Tapt1 |
G |
A |
5: 44,334,447 (GRCm39) |
L515F |
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,008,218 (GRCm39) |
I253T |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Unc13a |
A |
G |
8: 72,120,368 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,173,970 (GRCm39) |
V101A |
probably benign |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,840 (GRCm39) |
T125A |
possibly damaging |
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 |
|
R0905:Epb41l4b
|
UTSW |
4 |
57,103,528 (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 |
|
|
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'- AAGTCAGATCTGGCGGACTTG -3'
(R):5'- AGTGCACTGAACGTCTAGC -3'
Sequencing Primer
(F):5'- AAGAAGGCATGGTGCTCC -3'
(R):5'- GTGCACTGAACGTCTAGCTAATCG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation