Incidental Mutation 'R7125:Firrm'
| ID |
552247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Firrm
|
| Ensembl Gene |
ENSMUSG00000041406 |
| Gene Name |
FIGNL1 interacting regulator of recombination and mitosis |
| Synonyms |
BC055324 |
| MMRRC Submission |
045327-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
163773562-163822365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 163789631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 635
(T635A)
|
| 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 benign
Transcript: ENSMUST00000045876
AA Change: T635A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: T635A
| 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: T635A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: T635A
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,255,751 (GRCm39) |
C296S |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,264,145 (GRCm39) |
I354V |
probably null |
Het |
| Aldh1l1 |
G |
A |
6: 90,553,761 (GRCm39) |
|
probably null |
Het |
| Ankrd49 |
TAA |
TA |
9: 14,693,836 (GRCm39) |
|
probably null |
Het |
| B3gnt7 |
A |
G |
1: 86,233,099 (GRCm39) |
Y115C |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,602,510 (GRCm39) |
M1506K |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,138,510 (GRCm39) |
T226A |
probably benign |
Het |
| Ccdc28b |
T |
A |
4: 129,514,885 (GRCm39) |
T75S |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,372,321 (GRCm39) |
I1436V |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,408,593 (GRCm39) |
Y1320* |
probably null |
Het |
| Cntnap2 |
A |
T |
6: 46,965,580 (GRCm39) |
Y797F |
probably benign |
Het |
| Coq8a |
T |
A |
1: 179,996,366 (GRCm39) |
N490I |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,389,955 (GRCm39) |
L2230P |
|
Het |
| Cyp4a14 |
A |
T |
4: 115,348,358 (GRCm39) |
I373N |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,293,864 (GRCm39) |
S86P |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,405,140 (GRCm39) |
I298F |
possibly damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,327,008 (GRCm39) |
T3533A |
probably damaging |
Het |
| Fam53b |
T |
C |
7: 132,373,357 (GRCm39) |
H27R |
probably damaging |
Het |
| Fyb1 |
G |
A |
15: 6,674,337 (GRCm39) |
E658K |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,585,612 (GRCm39) |
S996G |
probably benign |
Het |
| Gm47959 |
G |
A |
1: 82,978,503 (GRCm39) |
G57S |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,738,325 (GRCm39) |
H2262Q |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,064,767 (GRCm39) |
T646A |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hexd |
C |
T |
11: 121,095,496 (GRCm39) |
|
probably benign |
Het |
| Micu2 |
A |
T |
14: 58,209,238 (GRCm39) |
Y73* |
probably null |
Het |
| N4bp2l2 |
T |
C |
5: 150,573,894 (GRCm39) |
|
probably null |
Het |
| Or11h7 |
T |
C |
14: 50,891,041 (GRCm39) |
C116R |
possibly damaging |
Het |
| Or1e31 |
T |
C |
11: 73,689,990 (GRCm39) |
M198V |
probably benign |
Het |
| Or1m1 |
A |
T |
9: 18,666,174 (GRCm39) |
Y252* |
probably null |
Het |
| Or51t4 |
T |
C |
7: 102,598,386 (GRCm39) |
V238A |
probably damaging |
Het |
| Or5b112 |
A |
T |
19: 13,319,103 (GRCm39) |
|
probably null |
Het |
| P3r3urf |
A |
G |
4: 116,030,667 (GRCm39) |
M24V |
probably benign |
Het |
| Prkca |
A |
G |
11: 107,874,848 (GRCm39) |
Y365H |
probably damaging |
Het |
| Ptpre |
C |
T |
7: 135,255,744 (GRCm39) |
R155* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,684,873 (GRCm39) |
N3023Y |
probably damaging |
Het |
| S100a7a |
A |
G |
3: 90,562,822 (GRCm39) |
D3G |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,594,277 (GRCm39) |
F1709L |
probably damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,602,660 (GRCm39) |
E67G |
probably damaging |
Het |
| Slc25a22 |
A |
G |
7: 141,011,655 (GRCm39) |
L195P |
probably damaging |
Het |
| Sp140 |
TTTTTTTTTTTTT |
TTTTTTTTTTTTTTTTTT |
1: 85,572,290 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
A |
7: 102,084,741 (GRCm39) |
H564Q |
possibly damaging |
Het |
| Sulf2 |
C |
T |
2: 165,917,448 (GRCm39) |
W855* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 49,127,588 (GRCm39) |
N30S |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,197 (GRCm39) |
D381G |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,066,670 (GRCm39) |
T328A |
probably benign |
Het |
| Ttc6 |
C |
G |
12: 57,623,125 (GRCm39) |
Q175E |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,370,941 (GRCm39) |
I702V |
probably damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,959 (GRCm39) |
F59L |
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 |
|
|
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'- GTGACTGACACTTTGGTAAGGTCTAC -3'
(R):5'- GACATCGTATGTACAGAGCCTAG -3'
Sequencing Primer
(F):5'- AGTCAGTAACTGCCTGATGC -3'
(R):5'- CGTATGTACAGAGCCTAGTAAAATTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation