Incidental Mutation 'R8311:Efhb'
| ID |
641406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efhb
|
| Ensembl Gene |
ENSMUSG00000023931 |
| Gene Name |
EF hand domain family, member B |
| Synonyms |
4921525D22Rik |
| MMRRC Submission |
067796-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R8311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
53705917-53770349 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 53720489 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,184,815 (GRCm39) |
|
probably benign |
Het |
| 4930407I10Rik |
T |
C |
15: 81,947,440 (GRCm39) |
W446R |
possibly damaging |
Het |
| Aldh1l2 |
T |
A |
10: 83,326,479 (GRCm39) |
E912D |
probably damaging |
Het |
| Apol9a |
T |
C |
15: 77,289,220 (GRCm39) |
D49G |
possibly damaging |
Het |
| Bnc2 |
A |
T |
4: 84,194,582 (GRCm39) |
D847E |
possibly damaging |
Het |
| Ccdc91 |
A |
G |
6: 147,437,114 (GRCm39) |
N100S |
possibly damaging |
Het |
| Copb2 |
G |
T |
9: 98,450,072 (GRCm39) |
K10N |
possibly damaging |
Het |
| Cyp4a14 |
A |
G |
4: 115,348,275 (GRCm39) |
S401P |
probably damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,916,914 (GRCm39) |
Q277L |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,354,217 (GRCm39) |
S410T |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,880,644 (GRCm39) |
N2651S |
probably benign |
Het |
| Eif4ebp1 |
T |
A |
8: 27,765,124 (GRCm39) |
F113L |
probably damaging |
Het |
| Emilin2 |
C |
G |
17: 71,562,141 (GRCm39) |
D954H |
probably damaging |
Het |
| Eng |
A |
G |
2: 32,569,005 (GRCm39) |
T511A |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,474,817 (GRCm39) |
D266G |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 49,087,433 (GRCm39) |
H309R |
possibly damaging |
Het |
| Gga3 |
A |
T |
11: 115,477,834 (GRCm39) |
S585T |
probably benign |
Het |
| Gm12117 |
T |
C |
11: 33,226,126 (GRCm39) |
Q70R |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,373,701 (GRCm39) |
H212R |
probably benign |
Het |
| Hmgb1 |
A |
G |
5: 148,987,427 (GRCm39) |
F41L |
possibly damaging |
Het |
| Iqcm |
T |
A |
8: 76,480,118 (GRCm39) |
|
probably benign |
Het |
| Itgav |
T |
A |
2: 83,596,121 (GRCm39) |
I214N |
probably damaging |
Het |
| Kcna1 |
T |
A |
6: 126,619,255 (GRCm39) |
H355L |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,394,247 (GRCm39) |
V393I |
probably benign |
Het |
| Mak16 |
T |
C |
8: 31,658,697 (GRCm39) |
D4G |
probably damaging |
Het |
| Metap2 |
C |
T |
10: 93,697,384 (GRCm39) |
R432H |
possibly damaging |
Het |
| Nlrc4 |
G |
A |
17: 74,753,540 (GRCm39) |
T281M |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,688,870 (GRCm39) |
Q561L |
probably damaging |
Het |
| Or10ak7 |
A |
C |
4: 118,791,347 (GRCm39) |
S231A |
probably damaging |
Het |
| Or10w3 |
A |
G |
19: 13,704,035 (GRCm39) |
T137A |
possibly damaging |
Het |
| Pira1 |
T |
C |
7: 3,739,482 (GRCm39) |
D462G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,628,282 (GRCm39) |
I1304V |
probably null |
Het |
| Ppp4r2 |
T |
C |
6: 100,843,343 (GRCm39) |
S354P |
probably benign |
Het |
| Ptchd3 |
A |
G |
11: 121,727,299 (GRCm39) |
H391R |
possibly damaging |
Het |
| Rchy1 |
T |
C |
5: 92,099,762 (GRCm39) |
D192G |
probably damaging |
Het |
| Rmdn1 |
T |
C |
4: 19,575,329 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
A |
1: 4,418,572 (GRCm39) |
I847L |
probably benign |
Het |
| Rtn1 |
T |
C |
12: 72,350,838 (GRCm39) |
E457G |
probably damaging |
Het |
| Serpind1 |
G |
A |
16: 17,160,730 (GRCm39) |
S420N |
possibly damaging |
Het |
| Sirpa |
T |
C |
2: 129,458,143 (GRCm39) |
V253A |
probably damaging |
Het |
| Snapc4 |
A |
T |
2: 26,268,546 (GRCm39) |
F38L |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,973,169 (GRCm39) |
V834A |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,156,969 (GRCm39) |
F2321S |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,142,075 (GRCm39) |
I641F |
probably damaging |
Het |
| Tmem216 |
A |
T |
19: 10,529,191 (GRCm39) |
F65Y |
probably benign |
Het |
| Tmem37 |
C |
T |
1: 119,995,982 (GRCm39) |
V32M |
possibly damaging |
Het |
| Tmprss11c |
T |
G |
5: 86,383,412 (GRCm39) |
Q338P |
probably damaging |
Het |
| Tonsl |
C |
T |
15: 76,517,463 (GRCm39) |
S752N |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,518 (GRCm39) |
K224E |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,887,100 (GRCm39) |
V3229D |
probably benign |
Het |
| Vwa5b2 |
C |
T |
16: 20,409,972 (GRCm39) |
R21W |
probably damaging |
Het |
| Wdr37 |
T |
C |
13: 8,903,609 (GRCm39) |
R165G |
unknown |
Het |
| Yars2 |
T |
C |
16: 16,125,147 (GRCm39) |
F388L |
probably benign |
Het |
| Ykt6 |
T |
A |
11: 5,912,366 (GRCm39) |
D106E |
probably benign |
Het |
| Zc3h12a |
A |
C |
4: 125,020,788 (GRCm39) |
S18R |
possibly damaging |
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 |
|
R2085:Efhb
|
UTSW |
17 |
53,733,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- CATTCCATACACAGCCTCTGCATA -3'
(R):5'- TTGTGTCCAAGCCAACCTG -3'
Sequencing Primer
(F):5'- GGGAATTGAACCTAGCTCCTCTG -3'
(R):5'- TGTCCAAGCCAACCTGCATCTAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation