Incidental Mutation 'R2085:Efhb'
ID |
230296 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efhb
|
Ensembl Gene |
ENSMUSG00000023931 |
Gene Name |
EF hand domain family, member B |
Synonyms |
4921525D22Rik |
MMRRC Submission |
040090-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R2085 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
53705917-53770349 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 53733937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024725]
|
AlphaFold |
Q8CDU5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000024725
|
SMART Domains |
Protein: ENSMUSP00000024725 Gene: ENSMUSG00000023931
Domain | Start | End | E-Value | Type |
low complexity region
|
565 |
574 |
N/A |
INTRINSIC |
EFh
|
585 |
613 |
2.14e-1 |
SMART |
EFh
|
621 |
649 |
1.98e0 |
SMART |
|
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 |
2810408A11Rik |
G |
T |
11: 69,791,198 (GRCm39) |
T127K |
possibly damaging |
Het |
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 |
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 Efhb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Efhb
|
APN |
17 |
53,769,481 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00990:Efhb
|
APN |
17 |
53,769,649 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02041:Efhb
|
APN |
17 |
53,733,287 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02247:Efhb
|
APN |
17 |
53,708,652 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02637:Efhb
|
APN |
17 |
53,756,580 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02704:Efhb
|
APN |
17 |
53,733,297 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03083:Efhb
|
APN |
17 |
53,706,087 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03090:Efhb
|
APN |
17 |
53,769,958 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03221:Efhb
|
APN |
17 |
53,706,014 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4531001:Efhb
|
UTSW |
17 |
53,752,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R0632:Efhb
|
UTSW |
17 |
53,720,487 (GRCm39) |
splice site |
probably benign |
|
R1234:Efhb
|
UTSW |
17 |
53,758,615 (GRCm39) |
nonsense |
probably null |
|
R1466:Efhb
|
UTSW |
17 |
53,744,206 (GRCm39) |
missense |
probably damaging |
0.99 |
R1466:Efhb
|
UTSW |
17 |
53,744,206 (GRCm39) |
missense |
probably damaging |
0.99 |
R1471:Efhb
|
UTSW |
17 |
53,706,140 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1624:Efhb
|
UTSW |
17 |
53,733,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R2019:Efhb
|
UTSW |
17 |
53,708,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R2226:Efhb
|
UTSW |
17 |
53,769,457 (GRCm39) |
critical splice donor site |
probably null |
|
R2415:Efhb
|
UTSW |
17 |
53,770,124 (GRCm39) |
missense |
probably benign |
0.01 |
R3848:Efhb
|
UTSW |
17 |
53,734,024 (GRCm39) |
splice site |
probably benign |
|
R3858:Efhb
|
UTSW |
17 |
53,769,808 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4581:Efhb
|
UTSW |
17 |
53,733,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R4712:Efhb
|
UTSW |
17 |
53,758,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Efhb
|
UTSW |
17 |
53,733,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R4732:Efhb
|
UTSW |
17 |
53,733,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Efhb
|
UTSW |
17 |
53,733,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R5375:Efhb
|
UTSW |
17 |
53,708,654 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5886:Efhb
|
UTSW |
17 |
53,758,582 (GRCm39) |
missense |
probably benign |
0.42 |
R6054:Efhb
|
UTSW |
17 |
53,706,027 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6195:Efhb
|
UTSW |
17 |
53,769,580 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6233:Efhb
|
UTSW |
17 |
53,769,580 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6450:Efhb
|
UTSW |
17 |
53,759,632 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6550:Efhb
|
UTSW |
17 |
53,728,968 (GRCm39) |
missense |
probably benign |
0.06 |
R6701:Efhb
|
UTSW |
17 |
53,706,091 (GRCm39) |
missense |
probably benign |
0.41 |
R6967:Efhb
|
UTSW |
17 |
53,770,196 (GRCm39) |
missense |
probably benign |
0.03 |
R7157:Efhb
|
UTSW |
17 |
53,707,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R7441:Efhb
|
UTSW |
17 |
53,708,549 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7694:Efhb
|
UTSW |
17 |
53,707,836 (GRCm39) |
missense |
probably damaging |
0.99 |
R8044:Efhb
|
UTSW |
17 |
53,706,143 (GRCm39) |
missense |
probably benign |
0.41 |
R8176:Efhb
|
UTSW |
17 |
53,707,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R8309:Efhb
|
UTSW |
17 |
53,756,563 (GRCm39) |
missense |
probably damaging |
0.99 |
R8311:Efhb
|
UTSW |
17 |
53,720,489 (GRCm39) |
critical splice donor site |
probably null |
|
R8821:Efhb
|
UTSW |
17 |
53,707,772 (GRCm39) |
critical splice donor site |
probably benign |
|
R8882:Efhb
|
UTSW |
17 |
53,769,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R9146:Efhb
|
UTSW |
17 |
53,769,644 (GRCm39) |
missense |
probably benign |
0.00 |
R9211:Efhb
|
UTSW |
17 |
53,756,507 (GRCm39) |
missense |
probably damaging |
0.96 |
R9760:Efhb
|
UTSW |
17 |
53,770,298 (GRCm39) |
missense |
probably damaging |
0.96 |
RF003:Efhb
|
UTSW |
17 |
53,707,919 (GRCm39) |
missense |
probably damaging |
1.00 |
RF012:Efhb
|
UTSW |
17 |
53,720,545 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Efhb
|
UTSW |
17 |
53,744,211 (GRCm39) |
missense |
probably benign |
0.26 |
Z1177:Efhb
|
UTSW |
17 |
53,744,154 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGTAAGACACAACCCAACATTTG -3'
(R):5'- GACTTGTTCACTGAGGGTGCAG -3'
Sequencing Primer
(F):5'- GGTTTTTCAATTTAGCCCAGATTG -3'
(R):5'- AGGGTGCAGTTATACCATGATCC -3'
|
Posted On |
2014-09-18 |