Incidental Mutation 'R6851:Firrm'
ID |
534953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Firrm
|
Ensembl Gene |
ENSMUSG00000041406 |
Gene Name |
FIGNL1 interacting regulator of recombination and mitosis |
Synonyms |
BC055324 |
MMRRC Submission |
044955-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6851 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
163773562-163822365 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 163792336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 554
(R554C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045876]
[ENSMUST00000097493]
[ENSMUST00000159617]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045876
AA Change: R554C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043143 Gene: ENSMUSG00000041406 AA Change: R554C
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
Pfam:DUF4487
|
233 |
779 |
2.3e-209 |
PFAM |
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097493
AA Change: R554C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095101 Gene: ENSMUSG00000041406 AA Change: R554C
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
Pfam:DUF4487
|
233 |
779 |
1.3e-186 |
PFAM |
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159617
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,623,345 (GRCm39) |
C856S |
probably benign |
Het |
Arrdc2 |
T |
C |
8: 71,291,369 (GRCm39) |
E153G |
probably damaging |
Het |
Cacna1d |
T |
C |
14: 29,764,739 (GRCm39) |
D2033G |
probably damaging |
Het |
Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
Cracr2a |
A |
T |
6: 127,585,679 (GRCm39) |
D159V |
probably damaging |
Het |
Defa35 |
T |
C |
8: 21,555,146 (GRCm39) |
I22T |
possibly damaging |
Het |
Dgke |
T |
C |
11: 88,943,309 (GRCm39) |
T227A |
probably benign |
Het |
Efcab3 |
G |
A |
11: 104,896,521 (GRCm39) |
R4290K |
probably benign |
Het |
Galnt10 |
G |
A |
11: 57,656,458 (GRCm39) |
R214Q |
probably damaging |
Het |
Gpr180 |
T |
C |
14: 118,391,037 (GRCm39) |
Y189H |
probably damaging |
Het |
Hadh |
A |
G |
3: 131,065,620 (GRCm39) |
S13P |
possibly damaging |
Het |
Hcn2 |
T |
A |
10: 79,564,947 (GRCm39) |
|
probably null |
Het |
Irgm2 |
T |
C |
11: 58,110,641 (GRCm39) |
S123P |
possibly damaging |
Het |
Kcnv1 |
T |
A |
15: 44,972,594 (GRCm39) |
I430F |
probably damaging |
Het |
Kif13b |
G |
A |
14: 65,010,514 (GRCm39) |
C1271Y |
probably damaging |
Het |
Klhdc3 |
A |
T |
17: 46,989,218 (GRCm39) |
I48N |
possibly damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,649,841 (GRCm39) |
W1182R |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,497,630 (GRCm39) |
|
probably null |
Het |
Or12e1 |
T |
A |
2: 87,022,813 (GRCm39) |
S261T |
probably benign |
Het |
Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
Or8b51 |
A |
G |
9: 38,569,481 (GRCm39) |
V69A |
probably benign |
Het |
Or8h9 |
T |
C |
2: 86,789,611 (GRCm39) |
T64A |
possibly damaging |
Het |
Or9m1b |
T |
A |
2: 87,836,300 (GRCm39) |
H265L |
probably damaging |
Het |
Osbpl8 |
T |
A |
10: 111,106,479 (GRCm39) |
Y295* |
probably null |
Het |
Pex5 |
A |
G |
6: 124,380,113 (GRCm39) |
S275P |
possibly damaging |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Sele |
G |
T |
1: 163,881,521 (GRCm39) |
G543C |
probably damaging |
Het |
Serpina3k |
A |
C |
12: 104,311,625 (GRCm39) |
Y401S |
probably benign |
Het |
Slc13a4 |
A |
G |
6: 35,278,668 (GRCm39) |
S74P |
probably damaging |
Het |
Spata31d1a |
A |
G |
13: 59,851,725 (GRCm39) |
L114P |
unknown |
Het |
Syne1 |
G |
T |
10: 5,212,703 (GRCm39) |
C3295* |
probably null |
Het |
Tepsin |
G |
T |
11: 119,987,787 (GRCm39) |
H44N |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,398,919 (GRCm39) |
V170E |
probably damaging |
Het |
Trav3-1 |
T |
C |
14: 52,818,428 (GRCm39) |
V34A |
probably damaging |
Het |
Tsbp1 |
A |
T |
17: 34,679,146 (GRCm39) |
Y303F |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,265,402 (GRCm39) |
V1642A |
probably benign |
Het |
Vmn1r122 |
A |
G |
7: 20,867,845 (GRCm39) |
I70T |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,802,800 (GRCm39) |
M237V |
possibly damaging |
Het |
Wdr75 |
A |
G |
1: 45,862,587 (GRCm39) |
E802G |
probably benign |
Het |
Zan |
G |
A |
5: 137,394,453 (GRCm39) |
T4462I |
unknown |
Het |
|
Other mutations in Firrm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02051:Firrm
|
APN |
1 |
163,785,091 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02638:Firrm
|
APN |
1 |
163,786,868 (GRCm39) |
nonsense |
probably null |
|
IGL03337:Firrm
|
APN |
1 |
163,818,328 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03048:Firrm
|
UTSW |
1 |
163,792,094 (GRCm39) |
missense |
probably benign |
0.04 |
R0106:Firrm
|
UTSW |
1 |
163,810,380 (GRCm39) |
unclassified |
probably benign |
|
R0106:Firrm
|
UTSW |
1 |
163,810,380 (GRCm39) |
unclassified |
probably benign |
|
R0414:Firrm
|
UTSW |
1 |
163,795,890 (GRCm39) |
missense |
probably benign |
0.02 |
R0511:Firrm
|
UTSW |
1 |
163,799,412 (GRCm39) |
splice site |
probably null |
|
R1323:Firrm
|
UTSW |
1 |
163,783,030 (GRCm39) |
unclassified |
probably benign |
|
R1870:Firrm
|
UTSW |
1 |
163,792,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R2129:Firrm
|
UTSW |
1 |
163,794,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R3716:Firrm
|
UTSW |
1 |
163,784,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R3783:Firrm
|
UTSW |
1 |
163,815,252 (GRCm39) |
missense |
probably benign |
0.27 |
R3872:Firrm
|
UTSW |
1 |
163,814,533 (GRCm39) |
missense |
probably damaging |
0.99 |
R4427:Firrm
|
UTSW |
1 |
163,781,853 (GRCm39) |
missense |
probably benign |
|
R5069:Firrm
|
UTSW |
1 |
163,815,243 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5620:Firrm
|
UTSW |
1 |
163,789,613 (GRCm39) |
nonsense |
probably null |
|
R5681:Firrm
|
UTSW |
1 |
163,789,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R5699:Firrm
|
UTSW |
1 |
163,785,120 (GRCm39) |
missense |
probably benign |
0.26 |
R5936:Firrm
|
UTSW |
1 |
163,814,581 (GRCm39) |
missense |
probably benign |
0.00 |
R6065:Firrm
|
UTSW |
1 |
163,815,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R6065:Firrm
|
UTSW |
1 |
163,786,957 (GRCm39) |
missense |
probably benign |
0.08 |
R6075:Firrm
|
UTSW |
1 |
163,805,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R6466:Firrm
|
UTSW |
1 |
163,781,734 (GRCm39) |
missense |
probably benign |
0.01 |
R6701:Firrm
|
UTSW |
1 |
163,799,412 (GRCm39) |
splice site |
probably null |
|
R6776:Firrm
|
UTSW |
1 |
163,804,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R6923:Firrm
|
UTSW |
1 |
163,814,454 (GRCm39) |
critical splice donor site |
probably null |
|
R7125:Firrm
|
UTSW |
1 |
163,789,631 (GRCm39) |
missense |
probably benign |
0.00 |
R7361:Firrm
|
UTSW |
1 |
163,813,602 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7492:Firrm
|
UTSW |
1 |
163,786,897 (GRCm39) |
missense |
probably benign |
0.35 |
R8528:Firrm
|
UTSW |
1 |
163,813,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Firrm
|
UTSW |
1 |
163,786,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R8786:Firrm
|
UTSW |
1 |
163,792,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R8938:Firrm
|
UTSW |
1 |
163,789,541 (GRCm39) |
missense |
probably benign |
0.01 |
R8957:Firrm
|
UTSW |
1 |
163,792,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R9023:Firrm
|
UTSW |
1 |
163,818,300 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9132:Firrm
|
UTSW |
1 |
163,814,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R9159:Firrm
|
UTSW |
1 |
163,814,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R9229:Firrm
|
UTSW |
1 |
163,794,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R9310:Firrm
|
UTSW |
1 |
163,792,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R9455:Firrm
|
UTSW |
1 |
163,781,721 (GRCm39) |
missense |
probably benign |
0.05 |
R9463:Firrm
|
UTSW |
1 |
163,795,907 (GRCm39) |
missense |
probably benign |
0.00 |
R9597:Firrm
|
UTSW |
1 |
163,804,340 (GRCm39) |
missense |
probably null |
1.00 |
R9646:Firrm
|
UTSW |
1 |
163,822,195 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Firrm
|
UTSW |
1 |
163,792,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATACTGCCACAAATGCAAGTTG -3'
(R):5'- AGTGTTCCTTCTCATTAAAGCAACC -3'
Sequencing Primer
(F):5'- GCCACAAATGCAAGTTGTCTGC -3'
(R):5'- AAGAGTAGCCCTGAGTTAAAATTTC -3'
|
Posted On |
2018-09-12 |