Incidental Mutation 'R9463:Firrm'
| ID |
714980 |
| 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 # |
R9463 (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 T
at 163795907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 428
(M428K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045876]
[ENSMUST00000097493]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045876
AA Change: M428K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: M428K
| 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 benign
Transcript: ENSMUST00000097493
AA Change: M428K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: M428K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
C |
T |
14: 8,256,789 (GRCm38) |
E25K |
probably damaging |
Het |
| Acss2 |
A |
G |
2: 155,392,032 (GRCm39) |
Y218C |
probably benign |
Het |
| Armc8 |
C |
T |
9: 99,378,203 (GRCm39) |
|
probably null |
Het |
| Aspg |
G |
A |
12: 112,089,824 (GRCm39) |
G454D |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,809,051 (GRCm39) |
T623A |
|
Het |
| Cacna1e |
A |
G |
1: 154,357,411 (GRCm39) |
L655P |
probably damaging |
Het |
| Cant1 |
T |
A |
11: 118,302,281 (GRCm39) |
N12I |
probably damaging |
Het |
| Cep63 |
T |
C |
9: 102,475,382 (GRCm39) |
T445A |
probably benign |
Het |
| Clstn1 |
A |
T |
4: 149,698,564 (GRCm39) |
D50V |
possibly damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,750,990 (GRCm39) |
I260N |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,431,076 (GRCm39) |
M1609V |
unknown |
Het |
| Dand5 |
A |
T |
8: 85,542,938 (GRCm39) |
C179* |
probably null |
Het |
| Dbndd1 |
A |
G |
8: 124,233,547 (GRCm39) |
L153P |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,306,454 (GRCm39) |
I437V |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,344,223 (GRCm39) |
S1856T |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,973,700 (GRCm39) |
Y641* |
probably null |
Het |
| Dthd1 |
G |
A |
5: 63,039,626 (GRCm39) |
R676H |
probably benign |
Het |
| Efl1 |
C |
T |
7: 82,426,733 (GRCm39) |
T1077M |
probably damaging |
Het |
| Eif3e |
G |
T |
15: 43,138,709 (GRCm39) |
Q83K |
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,286,910 (GRCm39) |
A170T |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
| Gmip |
G |
A |
8: 70,269,693 (GRCm39) |
R596Q |
possibly damaging |
Het |
| Hook1 |
A |
T |
4: 95,910,510 (GRCm39) |
Q708L |
probably damaging |
Het |
| Krtap9-3 |
G |
A |
11: 99,488,526 (GRCm39) |
R119C |
unknown |
Het |
| Lnpk |
A |
C |
2: 74,381,403 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
G |
T |
10: 127,429,334 (GRCm39) |
Y484* |
probably null |
Het |
| Lrrc8e |
C |
T |
8: 4,285,185 (GRCm39) |
P470L |
probably damaging |
Het |
| Mapre1 |
A |
G |
2: 153,606,960 (GRCm39) |
N231D |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,405,503 (GRCm39) |
N937K |
unknown |
Het |
| Ndufaf7 |
T |
C |
17: 79,253,900 (GRCm39) |
|
probably null |
Het |
| Nlrp5 |
A |
T |
7: 23,118,225 (GRCm39) |
I650F |
probably benign |
Het |
| Notch1 |
T |
C |
2: 26,359,845 (GRCm39) |
D1290G |
probably benign |
Het |
| Or7g27 |
C |
T |
9: 19,250,320 (GRCm39) |
A188V |
possibly damaging |
Het |
| Or8b46 |
T |
C |
9: 38,450,665 (GRCm39) |
I158T |
probably damaging |
Het |
| Orc4 |
C |
T |
2: 48,826,783 (GRCm39) |
|
probably null |
Het |
| Plekhm2 |
A |
G |
4: 141,357,949 (GRCm39) |
V664A |
probably benign |
Het |
| Pom121l2 |
T |
G |
13: 22,168,402 (GRCm39) |
I891S |
probably benign |
Het |
| Prkcsh |
T |
C |
9: 21,923,982 (GRCm39) |
Y425H |
probably damaging |
Het |
| Prps1l1 |
A |
C |
12: 35,035,559 (GRCm39) |
T225P |
probably damaging |
Het |
| Prr18 |
T |
G |
17: 8,560,324 (GRCm39) |
V160G |
probably damaging |
Het |
| Psd2 |
T |
A |
18: 36,143,798 (GRCm39) |
F701L |
probably damaging |
Het |
| Sclt1 |
T |
C |
3: 41,601,931 (GRCm39) |
E593G |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,948,548 (GRCm39) |
I631T |
probably benign |
Het |
| Sirt1 |
A |
T |
10: 63,171,487 (GRCm39) |
D231E |
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,378,259 (GRCm39) |
C139Y |
probably damaging |
Het |
| Sntg1 |
T |
A |
1: 8,624,974 (GRCm39) |
N274I |
probably damaging |
Het |
| Spocd1 |
A |
G |
4: 129,847,398 (GRCm39) |
Q529R |
|
Het |
| Trarg1 |
T |
A |
11: 76,571,098 (GRCm39) |
L38Q |
probably damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,530 (GRCm39) |
L40H |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,761,264 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,578,519 (GRCm39) |
Y24125H |
probably damaging |
Het |
| Ush1g |
C |
A |
11: 115,209,056 (GRCm39) |
L379F |
probably damaging |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,795 (GRCm39) |
M839K |
|
Het |
| Wee1 |
T |
C |
7: 109,721,917 (GRCm39) |
S121P |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,030,274 (GRCm39) |
K1222R |
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 |
|
|
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 |
|
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'- TTACCAGCCGAGGAAACAATGA -3'
(R):5'- GACGGCATGTCCATTTTGAAA -3'
Sequencing Primer
(F):5'- CCAGCCGAGGAAACAATGAAGAATG -3'
(R):5'- GACACTGTGATTCTCTAAAGTA -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation