Incidental Mutation 'R7694:Efhb'
| ID |
593577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efhb
|
| Ensembl Gene |
ENSMUSG00000023931 |
| Gene Name |
EF hand domain family, member B |
| Synonyms |
4921525D22Rik |
| MMRRC Submission |
045757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R7694 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
53705917-53770349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53707836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 776
(S776P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024725]
|
| AlphaFold |
Q8CDU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024725
AA Change: S776P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: S776P
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
G |
17: 14,109,144 (GRCm39) |
S1571A |
probably damaging |
Het |
| Agbl1 |
C |
A |
7: 76,348,513 (GRCm39) |
A870D |
unknown |
Het |
| Alpl |
C |
T |
4: 137,471,120 (GRCm39) |
G339R |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,504,498 (GRCm39) |
Y415H |
probably damaging |
Het |
| Cd69 |
G |
A |
6: 129,247,008 (GRCm39) |
R111C |
possibly damaging |
Het |
| Cdh26 |
A |
T |
2: 178,101,896 (GRCm39) |
T172S |
probably damaging |
Het |
| Cflar |
T |
A |
1: 58,791,966 (GRCm39) |
V423E |
|
Het |
| Cgrrf1 |
A |
C |
14: 47,091,415 (GRCm39) |
Q313P |
possibly damaging |
Het |
| Chga |
G |
A |
12: 102,527,606 (GRCm39) |
A87T |
probably benign |
Het |
| Chrna4 |
T |
A |
2: 180,660,386 (GRCm39) |
D102V |
|
Het |
| Cpvl |
A |
T |
6: 53,909,502 (GRCm39) |
Y211* |
probably null |
Het |
| Cyp26a1 |
G |
A |
19: 37,689,512 (GRCm39) |
D403N |
possibly damaging |
Het |
| Dchs2 |
T |
C |
3: 83,036,789 (GRCm39) |
L512P |
probably damaging |
Het |
| Dll3 |
A |
C |
7: 28,001,170 (GRCm39) |
M1R |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,503,337 (GRCm39) |
T1564A |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,758,822 (GRCm39) |
S1831G |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,441,967 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,632,375 (GRCm39) |
K1255E |
probably benign |
Het |
| Fitm2 |
C |
T |
2: 163,311,892 (GRCm39) |
C107Y |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,621,146 (GRCm39) |
V153A |
probably benign |
Het |
| Ggnbp2 |
A |
G |
11: 84,751,539 (GRCm39) |
V87A |
possibly damaging |
Het |
| Glb1l |
G |
T |
1: 75,178,436 (GRCm39) |
A334E |
probably damaging |
Het |
| Gnas |
T |
G |
2: 174,142,005 (GRCm39) |
L784R |
probably damaging |
Het |
| Gtf2i |
C |
T |
5: 134,311,659 (GRCm39) |
E223K |
probably damaging |
Het |
| H2-M10.5 |
T |
C |
17: 37,084,641 (GRCm39) |
Y122H |
probably damaging |
Het |
| Hikeshi |
G |
A |
7: 89,579,554 (GRCm39) |
Q6* |
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Irak2 |
A |
C |
6: 113,667,859 (GRCm39) |
D528A |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,278,042 (GRCm39) |
C17R |
unknown |
Het |
| Lcp2 |
G |
T |
11: 34,000,924 (GRCm39) |
V36L |
probably benign |
Het |
| Lin7c |
T |
C |
2: 109,726,617 (GRCm39) |
S89P |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,395,204 (GRCm39) |
A74T |
probably benign |
Het |
| Lrrtm3 |
T |
A |
10: 63,923,818 (GRCm39) |
M450L |
probably benign |
Het |
| Lsm11 |
C |
T |
11: 45,824,768 (GRCm39) |
R253Q |
probably benign |
Het |
| Map9 |
A |
T |
3: 82,266,290 (GRCm39) |
|
probably benign |
Het |
| Mmp2 |
T |
A |
8: 93,558,358 (GRCm39) |
D142E |
possibly damaging |
Het |
| Nrn1l |
A |
T |
8: 106,621,430 (GRCm39) |
T127S |
probably damaging |
Het |
| Or14c46 |
T |
C |
7: 85,918,983 (GRCm39) |
T5A |
probably damaging |
Het |
| Pelp1 |
G |
A |
11: 70,285,585 (GRCm39) |
T761I |
probably damaging |
Het |
| Pmm2 |
T |
A |
16: 8,463,254 (GRCm39) |
V63E |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,208,853 (GRCm39) |
L1942H |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,465,366 (GRCm39) |
C1350S |
possibly damaging |
Het |
| Rnf44 |
A |
G |
13: 54,829,841 (GRCm39) |
V381A |
probably damaging |
Het |
| Robo3 |
G |
A |
9: 37,329,816 (GRCm39) |
P1167S |
probably benign |
Het |
| Ryk |
A |
G |
9: 102,775,979 (GRCm39) |
E489G |
probably damaging |
Het |
| Satb2 |
T |
A |
1: 56,910,683 (GRCm39) |
I321L |
probably benign |
Het |
| Sh2b1 |
A |
T |
7: 126,066,929 (GRCm39) |
V655E |
probably benign |
Het |
| Slc16a12 |
G |
A |
19: 34,648,035 (GRCm39) |
T486M |
probably damaging |
Het |
| Slc34a1 |
G |
T |
13: 55,561,221 (GRCm39) |
R562L |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,669,902 (GRCm39) |
E779G |
probably damaging |
Het |
| Strc |
C |
A |
2: 121,207,577 (GRCm39) |
C598F |
probably damaging |
Het |
| Stxbp6 |
A |
T |
12: 44,948,810 (GRCm39) |
F100I |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,424,671 (GRCm39) |
T135A |
probably benign |
Het |
| Tmcc1 |
G |
A |
6: 116,110,805 (GRCm39) |
P159S |
|
Het |
| Tmem106b |
T |
A |
6: 13,078,105 (GRCm39) |
M100K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,578,039 (GRCm39) |
T24285S |
probably damaging |
Het |
| Vmn1r116 |
G |
A |
7: 20,606,337 (GRCm39) |
V53M |
possibly damaging |
Het |
| Zar1 |
A |
T |
5: 72,738,193 (GRCm39) |
S70T |
probably benign |
Het |
| Zfp235 |
C |
T |
7: 23,841,525 (GRCm39) |
T648M |
probably benign |
Het |
| Zfp937 |
C |
T |
2: 150,081,268 (GRCm39) |
H433Y |
probably 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 |
|
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'- TGTTGTGCATCAGATTAGAAGC -3'
(R):5'- TACAGCTGGGTTTCAGGATG -3'
Sequencing Primer
(F):5'- GAGGATCGTGACTTCAAATTCAGCC -3'
(R):5'- GGATGTCTTTGTCTCCCTCATTGATG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation