Incidental Mutation 'R9646:Firrm'
ID |
726700 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Firrm
|
Ensembl Gene |
ENSMUSG00000041406 |
Gene Name |
FIGNL1 interacting regulator of recombination and mitosis |
Synonyms |
BC055324 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9646 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
163773562-163822365 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 163822195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 32
(V32A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045694]
[ENSMUST00000045876]
[ENSMUST00000097493]
[ENSMUST00000111490]
[ENSMUST00000160926]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045694
|
SMART Domains |
Protein: ENSMUSP00000048636 Gene: ENSMUSG00000041396
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_16
|
150 |
233 |
7.3e-7 |
PFAM |
Pfam:PrmA
|
166 |
240 |
2.1e-7 |
PFAM |
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045876
AA Change: V32A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000043143 Gene: ENSMUSG00000041406 AA Change: V32A
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: V32A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095101 Gene: ENSMUSG00000041406 AA Change: V32A
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: ENSMUST00000111490
|
SMART Domains |
Protein: ENSMUSP00000107116 Gene: ENSMUSG00000041396
Domain | Start | End | E-Value | Type |
Pfam:MTS
|
147 |
232 |
4.5e-6 |
PFAM |
Pfam:Methyltransf_16
|
149 |
233 |
3.6e-7 |
PFAM |
Pfam:PrmA
|
166 |
238 |
2.7e-7 |
PFAM |
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160926
AA Change: V32A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124826 Gene: ENSMUSG00000041406 AA Change: V32A
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl2 |
A |
T |
3: 148,544,926 (GRCm39) |
I723N |
probably damaging |
Het |
Agbl1 |
G |
A |
7: 76,075,648 (GRCm39) |
R682Q |
unknown |
Het |
Ankrd42 |
A |
T |
7: 92,273,257 (GRCm39) |
D123E |
possibly damaging |
Het |
Anxa4 |
A |
T |
6: 86,730,814 (GRCm39) |
I121N |
probably damaging |
Het |
Asic1 |
T |
C |
15: 99,593,414 (GRCm39) |
F257S |
probably benign |
Het |
Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
Cckar |
T |
C |
5: 53,863,608 (GRCm39) |
T118A |
probably benign |
Het |
Cfap61 |
T |
A |
2: 145,854,152 (GRCm39) |
I388N |
probably damaging |
Het |
Chrnd |
A |
T |
1: 87,120,311 (GRCm39) |
I156F |
probably damaging |
Het |
Col15a1 |
T |
A |
4: 47,257,187 (GRCm39) |
L326Q |
possibly damaging |
Het |
Dcpp3 |
A |
T |
17: 24,138,156 (GRCm39) |
I105L |
possibly damaging |
Het |
Dnaaf5 |
T |
A |
5: 139,151,832 (GRCm39) |
H494Q |
probably benign |
Het |
Dph5 |
T |
A |
3: 115,708,692 (GRCm39) |
Y125N |
probably damaging |
Het |
Eif4enif1 |
T |
C |
11: 3,170,280 (GRCm39) |
V111A |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,802,724 (GRCm39) |
I1010K |
probably benign |
Het |
Faf1 |
T |
A |
4: 109,652,016 (GRCm39) |
W236R |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,035,813 (GRCm39) |
D3155G |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,827,808 (GRCm39) |
H125R |
probably damaging |
Het |
Galnt12 |
T |
C |
4: 47,120,390 (GRCm39) |
I491T |
probably damaging |
Het |
Gm10553 |
T |
A |
1: 85,077,901 (GRCm39) |
L6Q |
probably damaging |
Het |
H2-T10 |
A |
T |
17: 36,431,157 (GRCm39) |
I168N |
probably damaging |
Het |
Hdac9 |
T |
A |
12: 34,487,167 (GRCm39) |
Q78L |
probably damaging |
Het |
Hmx1 |
C |
T |
5: 35,549,400 (GRCm39) |
T231M |
probably damaging |
Het |
Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
Hsd17b13 |
T |
C |
5: 104,124,973 (GRCm39) |
K70R |
probably null |
Het |
Hykk |
C |
T |
9: 54,853,521 (GRCm39) |
T281I |
probably benign |
Het |
Il1r2 |
A |
G |
1: 40,162,362 (GRCm39) |
D335G |
probably damaging |
Het |
Insig2 |
A |
C |
1: 121,240,040 (GRCm39) |
L87V |
probably damaging |
Het |
Insrr |
A |
T |
3: 87,721,805 (GRCm39) |
Y1193F |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,371,845 (GRCm39) |
Y1173C |
probably damaging |
Het |
Kcnh8 |
A |
G |
17: 53,104,573 (GRCm39) |
N190S |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,897,119 (GRCm39) |
F161L |
probably benign |
Het |
Lilra5 |
T |
C |
7: 4,244,907 (GRCm39) |
L226P |
probably damaging |
Het |
Muc2 |
C |
T |
7: 141,276,643 (GRCm39) |
A11V |
probably benign |
Het |
Nrp2 |
T |
C |
1: 62,777,566 (GRCm39) |
F124L |
probably damaging |
Het |
Or52e4 |
T |
C |
7: 104,706,374 (GRCm39) |
I307T |
probably benign |
Het |
Or5m11b |
T |
A |
2: 85,806,446 (GRCm39) |
N286K |
probably benign |
Het |
Or5w15 |
T |
A |
2: 87,568,512 (GRCm39) |
D52V |
probably damaging |
Het |
Or8c19-ps1 |
T |
A |
9: 38,220,114 (GRCm39) |
S8T |
probably damaging |
Het |
Pcdhb17 |
A |
T |
18: 37,618,471 (GRCm39) |
N87I |
possibly damaging |
Het |
Pdgfrb |
T |
A |
18: 61,211,721 (GRCm39) |
|
probably null |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pepd |
A |
T |
7: 34,620,882 (GRCm39) |
Q49L |
possibly damaging |
Het |
Pigo |
C |
A |
4: 43,017,967 (GRCm39) |
R1083L |
probably damaging |
Het |
Pitpnm1 |
G |
A |
19: 4,153,269 (GRCm39) |
D142N |
probably damaging |
Het |
Plod1 |
C |
T |
4: 148,016,112 (GRCm39) |
E93K |
probably benign |
Het |
Pramel11 |
A |
T |
4: 143,623,634 (GRCm39) |
V180E |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,698,440 (GRCm39) |
I979T |
probably damaging |
Het |
Scrib |
C |
T |
15: 75,932,492 (GRCm39) |
G743D |
probably damaging |
Het |
Septin3 |
T |
C |
15: 82,170,088 (GRCm39) |
S205P |
probably benign |
Het |
Sez6 |
A |
G |
11: 77,867,632 (GRCm39) |
K850E |
probably damaging |
Het |
Sfxn5 |
T |
A |
6: 85,266,195 (GRCm39) |
T101S |
probably damaging |
Het |
Slc6a5 |
A |
T |
7: 49,567,496 (GRCm39) |
K317* |
probably null |
Het |
Sox8 |
A |
T |
17: 25,786,871 (GRCm39) |
D277E |
probably benign |
Het |
Sptbn2 |
G |
T |
19: 4,795,341 (GRCm39) |
A1600S |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,179,187 (GRCm39) |
V4429A |
possibly damaging |
Het |
Tnrc6b |
T |
A |
15: 80,773,266 (GRCm39) |
F1137L |
possibly damaging |
Het |
Trim43a |
A |
G |
9: 88,466,392 (GRCm39) |
R238G |
probably benign |
Het |
Triobp |
T |
C |
15: 78,887,934 (GRCm39) |
L1943P |
probably damaging |
Het |
Vmn1r125 |
T |
C |
7: 21,006,261 (GRCm39) |
V53A |
possibly damaging |
Het |
Vwa5b1 |
T |
A |
4: 138,319,420 (GRCm39) |
N412I |
probably damaging |
Het |
Yipf7 |
T |
A |
5: 69,678,424 (GRCm39) |
T122S |
probably benign |
Het |
Zfp1005 |
C |
T |
2: 150,110,104 (GRCm39) |
H265Y |
probably benign |
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 |
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 |
Z1177:Firrm
|
UTSW |
1 |
163,792,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCGTCCGACAATGCTAGGC -3'
(R):5'- GTCCTCCAATAGCTAGAGAGGG -3'
Sequencing Primer
(F):5'- ACAATGCTAGGCGCGCC -3'
(R):5'- GGAGCTCTCTCAAAGCCTG -3'
|
Posted On |
2022-10-06 |