Incidental Mutation 'R6776:Firrm'
ID |
531274 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Firrm
|
Ensembl Gene |
ENSMUSG00000041406 |
Gene Name |
FIGNL1 interacting regulator of recombination and mitosis |
Synonyms |
BC055324 |
MMRRC Submission |
044892-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6776 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
163773562-163822365 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 163804318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 338
(I338M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045876]
[ENSMUST00000097493]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045876
AA Change: I338M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043143 Gene: ENSMUSG00000041406 AA Change: I338M
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: I338M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095101 Gene: ENSMUSG00000041406 AA Change: I338M
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd13 |
A |
G |
8: 10,038,075 (GRCm39) |
H224R |
probably benign |
Het |
Anapc10 |
T |
C |
8: 80,446,374 (GRCm39) |
F68S |
probably damaging |
Het |
Arid2 |
A |
G |
15: 96,268,830 (GRCm39) |
N981S |
probably benign |
Het |
Bmerb1 |
T |
A |
16: 13,804,670 (GRCm39) |
S6T |
possibly damaging |
Het |
Cfap73 |
A |
G |
5: 120,772,276 (GRCm39) |
F9L |
probably damaging |
Het |
Chd3 |
A |
C |
11: 69,245,296 (GRCm39) |
L1141V |
probably damaging |
Het |
Daam1 |
C |
T |
12: 72,036,582 (GRCm39) |
L1052F |
possibly damaging |
Het |
Dmxl1 |
C |
T |
18: 50,027,041 (GRCm39) |
R2050C |
probably damaging |
Het |
Dpp10 |
G |
A |
1: 123,295,385 (GRCm39) |
Q552* |
probably null |
Het |
Dysf |
A |
G |
6: 84,041,876 (GRCm39) |
D160G |
possibly damaging |
Het |
Ecrg4 |
C |
A |
1: 43,781,551 (GRCm39) |
N144K |
probably damaging |
Het |
Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
Ftcd |
T |
C |
10: 76,425,073 (GRCm39) |
I518T |
probably benign |
Het |
Gapdh |
A |
G |
6: 125,139,236 (GRCm39) |
S248P |
probably damaging |
Het |
Gm5592 |
C |
G |
7: 40,939,153 (GRCm39) |
P812A |
probably damaging |
Het |
Grik2 |
G |
A |
10: 49,232,085 (GRCm39) |
L482F |
probably damaging |
Het |
Gzmg |
C |
T |
14: 56,394,288 (GRCm39) |
G202D |
probably damaging |
Het |
Hectd4 |
G |
A |
5: 121,491,574 (GRCm39) |
A3671T |
possibly damaging |
Het |
Hexa |
G |
T |
9: 59,465,355 (GRCm39) |
W203C |
probably damaging |
Het |
Igdcc4 |
A |
T |
9: 65,042,700 (GRCm39) |
T1217S |
probably benign |
Het |
Ipo7 |
A |
G |
7: 109,646,272 (GRCm39) |
D557G |
probably damaging |
Het |
Irx3 |
T |
A |
8: 92,526,463 (GRCm39) |
T414S |
probably benign |
Het |
Jakmip1 |
G |
A |
5: 37,344,498 (GRCm39) |
E1313K |
probably damaging |
Het |
Kbtbd12 |
T |
C |
6: 88,595,248 (GRCm39) |
D194G |
probably damaging |
Het |
Klk6 |
T |
C |
7: 43,476,298 (GRCm39) |
L46P |
probably damaging |
Het |
Krt86 |
T |
C |
15: 101,374,817 (GRCm39) |
I329T |
probably benign |
Het |
Mroh5 |
A |
G |
15: 73,661,817 (GRCm39) |
|
probably null |
Het |
Mtrf1 |
T |
C |
14: 79,650,521 (GRCm39) |
V323A |
probably damaging |
Het |
Oas3 |
A |
T |
5: 120,896,939 (GRCm39) |
I894N |
probably damaging |
Het |
Oplah |
C |
T |
15: 76,185,053 (GRCm39) |
V887I |
possibly damaging |
Het |
Pag1 |
T |
C |
3: 9,764,848 (GRCm39) |
T102A |
probably benign |
Het |
Pcnx1 |
C |
T |
12: 82,009,496 (GRCm39) |
A1181V |
possibly damaging |
Het |
Pkdrej |
G |
T |
15: 85,701,510 (GRCm39) |
Y1475* |
probably null |
Het |
Pla2g5 |
A |
G |
4: 138,527,964 (GRCm39) |
S101P |
probably benign |
Het |
Plekha4 |
C |
A |
7: 45,184,241 (GRCm39) |
A76E |
probably damaging |
Het |
Plk2 |
T |
C |
13: 110,536,325 (GRCm39) |
I592T |
probably benign |
Het |
Ppp2r3c |
T |
A |
12: 55,345,252 (GRCm39) |
R79* |
probably null |
Het |
Ppp2r3d |
A |
T |
9: 101,090,061 (GRCm39) |
H87Q |
probably benign |
Het |
Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
Prrt4 |
G |
T |
6: 29,176,551 (GRCm39) |
T258K |
possibly damaging |
Het |
Rhpn2 |
T |
A |
7: 35,083,194 (GRCm39) |
|
probably null |
Het |
Slc11a1 |
T |
A |
1: 74,423,244 (GRCm39) |
I365N |
probably damaging |
Het |
Slc7a7 |
C |
T |
14: 54,612,108 (GRCm39) |
G265D |
possibly damaging |
Het |
Thsd7a |
T |
A |
6: 12,555,636 (GRCm39) |
T83S |
possibly damaging |
Het |
Tln2 |
A |
G |
9: 67,170,187 (GRCm39) |
S1989P |
probably damaging |
Het |
Tnfaip3 |
T |
G |
10: 18,881,324 (GRCm39) |
T321P |
probably benign |
Het |
Tnrc6b |
C |
T |
15: 80,808,320 (GRCm39) |
P1623L |
possibly damaging |
Het |
Trpa1 |
T |
C |
1: 14,982,601 (GRCm39) |
N85S |
probably benign |
Het |
Trrap |
C |
T |
5: 144,788,066 (GRCm39) |
R3544* |
probably null |
Het |
Ttf2 |
A |
T |
3: 100,859,869 (GRCm39) |
V695E |
probably benign |
Het |
Ttll4 |
A |
G |
1: 74,720,512 (GRCm39) |
E509G |
probably damaging |
Het |
Vdr |
T |
C |
15: 97,767,709 (GRCm39) |
I94V |
probably damaging |
Het |
Wdfy3 |
G |
T |
5: 102,031,911 (GRCm39) |
Q2304K |
possibly damaging |
Het |
Zfp663 |
T |
C |
2: 165,200,935 (GRCm39) |
Y33C |
probably damaging |
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 |
|
R6851:Firrm
|
UTSW |
1 |
163,792,336 (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'- TTCAAAAGTGTCCGTCTCCC -3'
(R):5'- TGGTGGCTCTGACAGTCAAG -3'
Sequencing Primer
(F):5'- CTCCCAGTATTTTAAACAAGTGGGC -3'
(R):5'- GGAATGTCTTCCTTTCCTG -3'
|
Posted On |
2018-08-29 |