Incidental Mutation 'R6451:Efcab7'
ID |
516338 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efcab7
|
Ensembl Gene |
ENSMUSG00000073791 |
Gene Name |
EF-hand calcium binding domain 7 |
Synonyms |
|
MMRRC Submission |
044587-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6451 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
99717440-99769985 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 99719738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 73
(Y73*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097959]
[ENSMUST00000106994]
[ENSMUST00000124547]
[ENSMUST00000143994]
[ENSMUST00000146258]
|
AlphaFold |
Q8VDY4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000097959
AA Change: Y36*
|
SMART Domains |
Protein: ENSMUSP00000095572 Gene: ENSMUSG00000073791 AA Change: Y36*
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
99 |
N/A |
INTRINSIC |
SCOP:d2pvba_
|
339 |
408 |
2e-4 |
SMART |
Blast:EFh
|
348 |
376 |
2e-10 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102786
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106994
AA Change: Y36*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123045
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123830
|
Predicted Effect |
probably null
Transcript: ENSMUST00000124547
AA Change: Y36*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000143994
AA Change: Y73*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146258
|
SMART Domains |
Protein: ENSMUSP00000117153 Gene: ENSMUSG00000028549
Domain | Start | End | E-Value | Type |
Pfam:CENP-R
|
25 |
162 |
1e-63 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146739
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
All alleles(3) : Gene trapped(3) |
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,842,733 (GRCm39) |
V1164E |
probably damaging |
Het |
Acnat2 |
A |
G |
4: 49,380,262 (GRCm39) |
V372A |
probably benign |
Het |
Adam17 |
A |
T |
12: 21,392,883 (GRCm39) |
D313E |
probably benign |
Het |
Adgrf5 |
A |
T |
17: 43,735,709 (GRCm39) |
R200* |
probably null |
Het |
Akr1d1 |
G |
A |
6: 37,527,150 (GRCm39) |
E129K |
probably benign |
Het |
Arhgap29 |
T |
A |
3: 121,787,230 (GRCm39) |
V382E |
probably damaging |
Het |
Arhgef40 |
G |
A |
14: 52,238,456 (GRCm39) |
V1312I |
probably damaging |
Het |
Bbs9 |
A |
G |
9: 22,479,060 (GRCm39) |
S168G |
probably damaging |
Het |
Carmil1 |
T |
A |
13: 24,276,541 (GRCm39) |
K202* |
probably null |
Het |
Cnep1r1 |
A |
G |
8: 88,846,438 (GRCm39) |
E19G |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 31,022,765 (GRCm39) |
Q1124L |
probably benign |
Het |
Dph1 |
G |
T |
11: 75,072,143 (GRCm39) |
A242D |
probably damaging |
Het |
Esp18 |
G |
T |
17: 39,720,853 (GRCm39) |
E33* |
probably null |
Het |
Fbln2 |
T |
A |
6: 91,211,241 (GRCm39) |
I395K |
probably benign |
Het |
Grin3a |
C |
T |
4: 49,844,969 (GRCm39) |
C38Y |
probably damaging |
Het |
Hivep3 |
T |
A |
4: 119,956,105 (GRCm39) |
S1474T |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,868,670 (GRCm39) |
V45M |
probably damaging |
Het |
Intu |
T |
A |
3: 40,655,723 (GRCm39) |
F937I |
possibly damaging |
Het |
Llgl2 |
G |
A |
11: 115,735,767 (GRCm39) |
G121D |
probably damaging |
Het |
Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
Nsmce4a |
G |
T |
7: 130,144,479 (GRCm39) |
|
|
Het |
Or5w20 |
T |
C |
2: 87,726,935 (GRCm39) |
Y131H |
probably damaging |
Het |
Or6c69c |
A |
T |
10: 129,911,007 (GRCm39) |
M243L |
probably benign |
Het |
Phactr1 |
T |
A |
13: 43,286,469 (GRCm39) |
V590E |
probably damaging |
Het |
Pigo |
G |
A |
4: 43,021,412 (GRCm39) |
S510L |
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Rnf19a |
A |
G |
15: 36,253,205 (GRCm39) |
I378T |
possibly damaging |
Het |
Rnf216 |
G |
T |
5: 142,978,589 (GRCm39) |
P793T |
possibly damaging |
Het |
Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
Son |
T |
A |
16: 91,454,490 (GRCm39) |
M1079K |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,624,596 (GRCm39) |
M166K |
probably benign |
Het |
Spta1 |
G |
A |
1: 174,044,767 (GRCm39) |
E1468K |
probably damaging |
Het |
Taar3 |
A |
T |
10: 23,825,705 (GRCm39) |
I84F |
possibly damaging |
Het |
Tas2r107 |
T |
A |
6: 131,636,977 (GRCm39) |
D24V |
possibly damaging |
Het |
Tmc2 |
A |
G |
2: 130,106,123 (GRCm39) |
R885G |
probably damaging |
Het |
Tox3 |
C |
A |
8: 90,984,687 (GRCm39) |
R164L |
probably benign |
Het |
Ttc5 |
A |
G |
14: 51,004,664 (GRCm39) |
I380T |
probably damaging |
Het |
Vmn1r179 |
A |
G |
7: 23,628,076 (GRCm39) |
N89S |
possibly damaging |
Het |
Zfp944 |
T |
C |
17: 22,557,846 (GRCm39) |
E467G |
probably benign |
Het |
Zzef1 |
A |
T |
11: 72,813,982 (GRCm39) |
D2857V |
possibly damaging |
Het |
|
Other mutations in Efcab7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00492:Efcab7
|
APN |
4 |
99,719,700 (GRCm39) |
missense |
probably benign |
0.12 |
3-1:Efcab7
|
UTSW |
4 |
99,758,966 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0023:Efcab7
|
UTSW |
4 |
99,758,834 (GRCm39) |
splice site |
probably benign |
|
R0085:Efcab7
|
UTSW |
4 |
99,761,877 (GRCm39) |
unclassified |
probably benign |
|
R0122:Efcab7
|
UTSW |
4 |
99,749,560 (GRCm39) |
splice site |
probably benign |
|
R0326:Efcab7
|
UTSW |
4 |
99,719,631 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0382:Efcab7
|
UTSW |
4 |
99,758,966 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0410:Efcab7
|
UTSW |
4 |
99,735,487 (GRCm39) |
critical splice donor site |
probably null |
|
R0413:Efcab7
|
UTSW |
4 |
99,766,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R0611:Efcab7
|
UTSW |
4 |
99,758,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R0689:Efcab7
|
UTSW |
4 |
99,761,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R1114:Efcab7
|
UTSW |
4 |
99,735,452 (GRCm39) |
nonsense |
probably null |
|
R1459:Efcab7
|
UTSW |
4 |
99,769,744 (GRCm39) |
missense |
probably null |
1.00 |
R1722:Efcab7
|
UTSW |
4 |
99,757,815 (GRCm39) |
missense |
probably benign |
0.36 |
R1932:Efcab7
|
UTSW |
4 |
99,768,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Efcab7
|
UTSW |
4 |
99,757,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R2305:Efcab7
|
UTSW |
4 |
99,719,718 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2358:Efcab7
|
UTSW |
4 |
99,719,823 (GRCm39) |
unclassified |
probably benign |
|
R2845:Efcab7
|
UTSW |
4 |
99,766,835 (GRCm39) |
missense |
probably damaging |
0.99 |
R3915:Efcab7
|
UTSW |
4 |
99,735,375 (GRCm39) |
missense |
probably damaging |
0.98 |
R4469:Efcab7
|
UTSW |
4 |
99,766,901 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4686:Efcab7
|
UTSW |
4 |
99,735,318 (GRCm39) |
missense |
probably benign |
0.29 |
R4737:Efcab7
|
UTSW |
4 |
99,719,805 (GRCm39) |
nonsense |
probably null |
|
R4970:Efcab7
|
UTSW |
4 |
99,719,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R5120:Efcab7
|
UTSW |
4 |
99,754,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R5264:Efcab7
|
UTSW |
4 |
99,735,372 (GRCm39) |
missense |
probably benign |
0.27 |
R5366:Efcab7
|
UTSW |
4 |
99,761,931 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5901:Efcab7
|
UTSW |
4 |
99,766,941 (GRCm39) |
missense |
probably damaging |
0.99 |
R6255:Efcab7
|
UTSW |
4 |
99,717,627 (GRCm39) |
unclassified |
probably benign |
|
R6438:Efcab7
|
UTSW |
4 |
99,766,969 (GRCm39) |
missense |
probably benign |
0.39 |
R6717:Efcab7
|
UTSW |
4 |
99,761,931 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6766:Efcab7
|
UTSW |
4 |
99,735,161 (GRCm39) |
frame shift |
probably null |
|
R6855:Efcab7
|
UTSW |
4 |
99,757,777 (GRCm39) |
nonsense |
probably null |
|
R6865:Efcab7
|
UTSW |
4 |
99,769,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R7868:Efcab7
|
UTSW |
4 |
99,746,154 (GRCm39) |
missense |
probably benign |
0.01 |
R7893:Efcab7
|
UTSW |
4 |
99,746,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Efcab7
|
UTSW |
4 |
99,717,615 (GRCm39) |
missense |
unknown |
|
R8787:Efcab7
|
UTSW |
4 |
99,757,791 (GRCm39) |
missense |
probably null |
0.99 |
R9214:Efcab7
|
UTSW |
4 |
99,735,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R9649:Efcab7
|
UTSW |
4 |
99,761,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCCATGGTGGCACATTTG -3'
(R):5'- ACCAACTCATAAGCAGTAACTGATG -3'
Sequencing Primer
(F):5'- GCATTTTAGGTGATTTACATCGACG -3'
(R):5'- GAATACACAATCCTCTCTCTGTGTAC -3'
|
Posted On |
2018-05-21 |