Incidental Mutation 'R6466:Firrm'
| ID |
516562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Firrm
|
| Ensembl Gene |
ENSMUSG00000041406 |
| Gene Name |
FIGNL1 interacting regulator of recombination and mitosis |
| Synonyms |
BC055324 |
| MMRRC Submission |
044599-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6466 (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 T
at 163781734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 898
(R898S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027876]
[ENSMUST00000045876]
[ENSMUST00000097493]
[ENSMUST00000159516]
[ENSMUST00000159617]
[ENSMUST00000161908]
[ENSMUST00000162234]
[ENSMUST00000170359]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027876
|
| SMART Domains |
Protein: ENSMUSP00000027876
Gene: ENSMUSG00000026584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
32 |
245 |
1.9e-7 |
PFAM |
|
low complexity region
|
525 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045876
AA Change: R898S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: R898S
| 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: R898S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: R898S
| 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: ENSMUST00000159516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161908
|
| SMART Domains |
Protein: ENSMUSP00000125735
Gene: ENSMUSG00000026584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
25 |
274 |
1.5e-8 |
PFAM |
|
low complexity region
|
512 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170359
|
| SMART Domains |
Protein: ENSMUSP00000132109
Gene: ENSMUSG00000026584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
25 |
274 |
1.5e-8 |
PFAM |
|
low complexity region
|
512 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
718 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
A |
T |
8: 121,335,735 (GRCm39) |
D69E |
probably damaging |
Het |
| AAdacl4fm3 |
T |
A |
4: 144,430,437 (GRCm39) |
D184V |
probably damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,723,220 (GRCm39) |
|
probably null |
Het |
| Ahr |
A |
T |
12: 35,554,031 (GRCm39) |
V696E |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,376,792 (GRCm39) |
T2007A |
probably benign |
Het |
| Arid1b |
T |
C |
17: 5,377,953 (GRCm39) |
F753S |
probably damaging |
Het |
| Bpifb3 |
G |
T |
2: 153,764,108 (GRCm39) |
K105N |
probably damaging |
Het |
| C2cd2 |
A |
G |
16: 97,680,822 (GRCm39) |
C331R |
probably benign |
Het |
| Chrm1 |
T |
A |
19: 8,655,542 (GRCm39) |
Y82* |
probably null |
Het |
| Clcn3 |
A |
C |
8: 61,382,595 (GRCm39) |
V331G |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,413,748 (GRCm39) |
D1022E |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,430,241 (GRCm39) |
T106S |
probably benign |
Het |
| Fam171a2 |
T |
A |
11: 102,330,711 (GRCm39) |
D256V |
probably damaging |
Het |
| Fmn2 |
T |
A |
1: 174,437,149 (GRCm39) |
|
probably benign |
Het |
| Fut11 |
C |
T |
14: 20,745,377 (GRCm39) |
R103W |
probably damaging |
Het |
| Gas2l2 |
A |
C |
11: 83,320,179 (GRCm39) |
S26A |
probably damaging |
Het |
| Gramd1a |
A |
T |
7: 30,843,221 (GRCm39) |
I29N |
probably benign |
Het |
| Grem2 |
A |
G |
1: 174,664,450 (GRCm39) |
V133A |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,233,600 (GRCm39) |
S1813T |
possibly damaging |
Het |
| Igkv3-2 |
T |
C |
6: 70,676,023 (GRCm39) |
F111L |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,878 (GRCm39) |
Q68R |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,354 (GRCm39) |
I146V |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,136,124 (GRCm39) |
L707P |
probably damaging |
Het |
| Kcnk4 |
T |
A |
19: 6,905,665 (GRCm39) |
I101F |
probably damaging |
Het |
| Klhl9 |
A |
G |
4: 88,639,399 (GRCm39) |
Y281H |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Lmbr1 |
C |
T |
5: 29,583,166 (GRCm39) |
A9T |
probably benign |
Het |
| Map10 |
G |
T |
8: 126,399,123 (GRCm39) |
E839* |
probably null |
Het |
| Nectin4 |
C |
A |
1: 171,214,321 (GRCm39) |
A492D |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,082,140 (GRCm39) |
|
probably null |
Het |
| Or5p5 |
A |
G |
7: 107,413,901 (GRCm39) |
T37A |
probably benign |
Het |
| Plec |
A |
G |
15: 76,062,084 (GRCm39) |
Y2608H |
probably benign |
Het |
| Pold3 |
A |
G |
7: 99,749,839 (GRCm39) |
S42P |
probably benign |
Het |
| Ppp2r1a |
G |
T |
17: 21,180,893 (GRCm39) |
G432* |
probably null |
Het |
| Qki |
T |
C |
17: 10,434,394 (GRCm39) |
E315G |
probably benign |
Het |
| Rfx2 |
C |
T |
17: 57,091,397 (GRCm39) |
V354I |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,418,109 (GRCm39) |
Y1001C |
probably benign |
Het |
| Sez6l |
A |
G |
5: 112,609,007 (GRCm39) |
|
probably null |
Het |
| Slc39a14 |
A |
G |
14: 70,547,335 (GRCm39) |
I337T |
probably damaging |
Het |
| Slc3a2 |
G |
T |
19: 8,686,683 (GRCm39) |
L76M |
probably damaging |
Het |
| Slco1a5 |
T |
C |
6: 142,183,260 (GRCm39) |
T555A |
probably benign |
Het |
| Sprr2e |
A |
T |
3: 92,260,341 (GRCm39) |
K57N |
unknown |
Het |
| Syne2 |
A |
G |
12: 75,990,675 (GRCm39) |
T1886A |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,689,098 (GRCm39) |
I2147N |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 117,950,328 (GRCm39) |
G654W |
probably damaging |
Het |
| Tigd5 |
A |
G |
15: 75,782,352 (GRCm39) |
Y238C |
possibly damaging |
Het |
| Tmem221 |
A |
G |
8: 72,010,493 (GRCm39) |
F126S |
probably damaging |
Het |
| Trp63 |
C |
A |
16: 25,582,108 (GRCm39) |
P52Q |
probably damaging |
Het |
| Ugp2 |
A |
T |
11: 21,278,883 (GRCm39) |
S434R |
probably benign |
Het |
| Vmn2r69 |
A |
C |
7: 85,056,378 (GRCm39) |
F587V |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,784,065 (GRCm39) |
N3872I |
possibly damaging |
Het |
| Wdfy2 |
A |
G |
14: 63,186,115 (GRCm39) |
Y250C |
probably damaging |
Het |
| Zbtb16 |
T |
C |
9: 48,576,619 (GRCm39) |
D487G |
possibly 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 |
|
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 |
|
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'- TGGACCAAAGCTCTCAATGAG -3'
(R):5'- TTTTCCAGCCTCACACAAAGAG -3'
Sequencing Primer
(F):5'- GGACCAAAGCTCTCAATGAGAAATAC -3'
(R):5'- CACAAAGAGAGCCCGTCGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation