Incidental Mutation 'R3725:Fam135a'
ID |
270706 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135a
|
Ensembl Gene |
ENSMUSG00000026153 |
Gene Name |
family with sequence similarity 135, member A |
Synonyms |
4921533L14Rik |
MMRRC Submission |
040716-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R3725 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 24096515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 77
(K77*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027337]
[ENSMUST00000186999]
[ENSMUST00000187369]
[ENSMUST00000187752]
[ENSMUST00000188712]
|
AlphaFold |
Q6NS59 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027337
AA Change: K77*
|
SMART Domains |
Protein: ENSMUSP00000027337 Gene: ENSMUSG00000026153 AA Change: K77*
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
111 |
172 |
1.9e-19 |
PFAM |
coiled coil region
|
270 |
295 |
N/A |
INTRINSIC |
low complexity region
|
489 |
502 |
N/A |
INTRINSIC |
low complexity region
|
842 |
853 |
N/A |
INTRINSIC |
low complexity region
|
1072 |
1085 |
N/A |
INTRINSIC |
Blast:LRRNT
|
1139 |
1172 |
4e-6 |
BLAST |
low complexity region
|
1173 |
1184 |
N/A |
INTRINSIC |
Pfam:DUF676
|
1235 |
1431 |
9e-65 |
PFAM |
Pfam:PGAP1
|
1237 |
1440 |
3.9e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185525
|
Predicted Effect |
probably null
Transcript: ENSMUST00000186999
AA Change: K77*
|
SMART Domains |
Protein: ENSMUSP00000140198 Gene: ENSMUSG00000026153 AA Change: K77*
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
111 |
173 |
1.8e-15 |
PFAM |
Pfam:DUF3657
|
338 |
395 |
7.3e-8 |
PFAM |
low complexity region
|
672 |
683 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000187369
AA Change: K77*
|
SMART Domains |
Protein: ENSMUSP00000140766 Gene: ENSMUSG00000026153 AA Change: K77*
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
111 |
173 |
3e-15 |
PFAM |
coiled coil region
|
270 |
295 |
N/A |
INTRINSIC |
Pfam:DUF3657
|
312 |
369 |
1.2e-7 |
PFAM |
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
low complexity region
|
876 |
889 |
N/A |
INTRINSIC |
Blast:LRRNT
|
943 |
976 |
4e-6 |
BLAST |
low complexity region
|
977 |
988 |
N/A |
INTRINSIC |
Pfam:DUF676
|
1039 |
1235 |
6.8e-62 |
PFAM |
Pfam:PGAP1
|
1041 |
1259 |
8.1e-5 |
PFAM |
Pfam:LCAT
|
1097 |
1203 |
2.3e-4 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000187752
AA Change: K34*
|
SMART Domains |
Protein: ENSMUSP00000139633 Gene: ENSMUSG00000026153 AA Change: K34*
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
68 |
130 |
3e-15 |
PFAM |
Pfam:DUF3657
|
295 |
352 |
1.2e-7 |
PFAM |
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
Blast:LRRNT
|
926 |
959 |
4e-6 |
BLAST |
low complexity region
|
960 |
971 |
N/A |
INTRINSIC |
Pfam:DUF676
|
1022 |
1218 |
6.7e-62 |
PFAM |
Pfam:PGAP1
|
1024 |
1242 |
8e-5 |
PFAM |
Pfam:LCAT
|
1080 |
1186 |
2.2e-4 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000188712
AA Change: K77*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam8 |
T |
A |
7: 139,563,781 (GRCm39) |
R740S |
possibly damaging |
Het |
Adamtsl3 |
A |
C |
7: 82,261,612 (GRCm39) |
D1676A |
possibly damaging |
Het |
Atp6v1a |
A |
G |
16: 43,922,120 (GRCm39) |
|
probably benign |
Het |
Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
Ccdc81 |
A |
T |
7: 89,515,838 (GRCm39) |
F614I |
possibly damaging |
Het |
Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
Cfap47 |
T |
A |
X: 78,553,621 (GRCm39) |
T285S |
probably damaging |
Het |
Cfh |
T |
C |
1: 140,014,234 (GRCm39) |
M1197V |
probably damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,802,810 (GRCm39) |
F228L |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,864 (GRCm39) |
M575T |
probably benign |
Het |
Dhx36 |
A |
T |
3: 62,395,643 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,301,053 (GRCm39) |
I1554L |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,378,665 (GRCm39) |
|
probably null |
Het |
Dsp |
A |
G |
13: 38,381,594 (GRCm39) |
S2181G |
probably benign |
Het |
Epg5 |
T |
C |
18: 78,060,894 (GRCm39) |
I1959T |
probably benign |
Het |
Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
Fbxo11 |
A |
G |
17: 88,316,714 (GRCm39) |
V323A |
probably benign |
Het |
Fzd5 |
A |
G |
1: 64,775,498 (GRCm39) |
S88P |
probably damaging |
Het |
Galnt12 |
A |
T |
4: 47,104,140 (GRCm39) |
T133S |
probably damaging |
Het |
Gja8 |
A |
G |
3: 96,827,161 (GRCm39) |
L167P |
probably damaging |
Het |
Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
Gsdmd |
A |
G |
15: 75,737,939 (GRCm39) |
D247G |
probably benign |
Het |
Iqcg |
A |
G |
16: 32,840,909 (GRCm39) |
|
probably null |
Het |
Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
Mlip |
A |
G |
9: 77,097,662 (GRCm39) |
S282P |
probably damaging |
Het |
Nfxl1 |
A |
T |
5: 72,674,405 (GRCm39) |
D831E |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,325,145 (GRCm39) |
D2506G |
probably damaging |
Het |
Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
Or7a39 |
T |
A |
10: 78,715,766 (GRCm39) |
Y253* |
probably null |
Het |
Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
Pigc |
G |
A |
1: 161,798,860 (GRCm39) |
G281R |
possibly damaging |
Het |
Polr3g |
C |
T |
13: 81,842,754 (GRCm39) |
R87H |
probably damaging |
Het |
Ppfia4 |
T |
C |
1: 134,241,449 (GRCm39) |
D502G |
probably benign |
Het |
Psg18 |
T |
A |
7: 18,088,748 (GRCm39) |
|
probably benign |
Het |
Rad9a |
G |
A |
19: 4,247,694 (GRCm39) |
R179C |
probably damaging |
Het |
Rxra |
A |
G |
2: 27,644,289 (GRCm39) |
D327G |
probably damaging |
Het |
Samd7 |
T |
C |
3: 30,805,283 (GRCm39) |
V22A |
possibly damaging |
Het |
Slc22a29 |
A |
T |
19: 8,195,973 (GRCm39) |
V22D |
possibly damaging |
Het |
Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
Smarcb1 |
T |
A |
10: 75,752,620 (GRCm39) |
K73N |
probably benign |
Het |
Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
Stpg2 |
A |
G |
3: 139,023,238 (GRCm39) |
K418R |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,640,538 (GRCm39) |
I200V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,221,588 (GRCm39) |
L43* |
probably null |
Het |
Vmn1r205 |
A |
T |
13: 22,776,671 (GRCm39) |
F144I |
probably damaging |
Het |
Vmn2r54 |
G |
A |
7: 12,366,223 (GRCm39) |
T237I |
probably benign |
Het |
Vmn2r7 |
A |
T |
3: 64,632,412 (GRCm39) |
F17I |
possibly damaging |
Het |
Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
Vps13d |
T |
A |
4: 144,842,218 (GRCm39) |
|
probably benign |
Het |
Zkscan5 |
A |
T |
5: 145,157,723 (GRCm39) |
R742W |
probably damaging |
Het |
|
Other mutations in Fam135a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00987:Fam135a
|
APN |
1 |
24,094,979 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01993:Fam135a
|
APN |
1 |
24,094,992 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02172:Fam135a
|
APN |
1 |
24,063,861 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02832:Fam135a
|
APN |
1 |
24,067,714 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03075:Fam135a
|
APN |
1 |
24,069,987 (GRCm39) |
splice site |
probably benign |
|
IGL03197:Fam135a
|
APN |
1 |
24,083,263 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03214:Fam135a
|
APN |
1 |
24,092,357 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03355:Fam135a
|
APN |
1 |
24,068,249 (GRCm39) |
missense |
possibly damaging |
0.93 |
PIT4434001:Fam135a
|
UTSW |
1 |
24,068,276 (GRCm39) |
missense |
probably benign |
|
R0276:Fam135a
|
UTSW |
1 |
24,107,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R1429:Fam135a
|
UTSW |
1 |
24,083,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R1553:Fam135a
|
UTSW |
1 |
24,060,951 (GRCm39) |
missense |
probably damaging |
0.97 |
R1582:Fam135a
|
UTSW |
1 |
24,068,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R1686:Fam135a
|
UTSW |
1 |
24,068,887 (GRCm39) |
missense |
probably benign |
0.05 |
R1732:Fam135a
|
UTSW |
1 |
24,065,734 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1859:Fam135a
|
UTSW |
1 |
24,069,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Fam135a
|
UTSW |
1 |
24,068,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R2266:Fam135a
|
UTSW |
1 |
24,067,878 (GRCm39) |
missense |
probably benign |
0.22 |
R2570:Fam135a
|
UTSW |
1 |
24,061,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R3740:Fam135a
|
UTSW |
1 |
24,053,892 (GRCm39) |
missense |
probably damaging |
0.99 |
R3741:Fam135a
|
UTSW |
1 |
24,053,892 (GRCm39) |
missense |
probably damaging |
0.99 |
R3765:Fam135a
|
UTSW |
1 |
24,094,958 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3792:Fam135a
|
UTSW |
1 |
24,067,392 (GRCm39) |
missense |
probably benign |
0.14 |
R3940:Fam135a
|
UTSW |
1 |
24,096,556 (GRCm39) |
missense |
probably damaging |
0.98 |
R3946:Fam135a
|
UTSW |
1 |
24,069,475 (GRCm39) |
missense |
probably damaging |
0.96 |
R4754:Fam135a
|
UTSW |
1 |
24,067,835 (GRCm39) |
nonsense |
probably null |
|
R4794:Fam135a
|
UTSW |
1 |
24,068,241 (GRCm39) |
missense |
probably benign |
0.36 |
R4887:Fam135a
|
UTSW |
1 |
24,063,334 (GRCm39) |
nonsense |
probably null |
|
R4891:Fam135a
|
UTSW |
1 |
24,069,409 (GRCm39) |
missense |
probably benign |
0.00 |
R4929:Fam135a
|
UTSW |
1 |
24,069,081 (GRCm39) |
missense |
probably benign |
0.16 |
R4999:Fam135a
|
UTSW |
1 |
24,059,758 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5092:Fam135a
|
UTSW |
1 |
24,067,888 (GRCm39) |
missense |
probably benign |
0.11 |
R5205:Fam135a
|
UTSW |
1 |
24,068,592 (GRCm39) |
missense |
probably benign |
0.05 |
R5313:Fam135a
|
UTSW |
1 |
24,067,666 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5579:Fam135a
|
UTSW |
1 |
24,068,808 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5689:Fam135a
|
UTSW |
1 |
24,068,134 (GRCm39) |
missense |
probably benign |
0.22 |
R5863:Fam135a
|
UTSW |
1 |
24,053,863 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5869:Fam135a
|
UTSW |
1 |
24,068,511 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6128:Fam135a
|
UTSW |
1 |
24,069,821 (GRCm39) |
critical splice donor site |
probably null |
|
R6505:Fam135a
|
UTSW |
1 |
24,053,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R6668:Fam135a
|
UTSW |
1 |
24,067,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R6793:Fam135a
|
UTSW |
1 |
24,107,006 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6857:Fam135a
|
UTSW |
1 |
24,053,870 (GRCm39) |
missense |
probably damaging |
0.99 |
R6931:Fam135a
|
UTSW |
1 |
24,124,568 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
R6977:Fam135a
|
UTSW |
1 |
24,093,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R7187:Fam135a
|
UTSW |
1 |
24,083,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R7206:Fam135a
|
UTSW |
1 |
24,069,354 (GRCm39) |
missense |
probably benign |
0.14 |
R7305:Fam135a
|
UTSW |
1 |
24,069,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7313:Fam135a
|
UTSW |
1 |
24,096,473 (GRCm39) |
missense |
probably damaging |
0.98 |
R7420:Fam135a
|
UTSW |
1 |
24,051,567 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7646:Fam135a
|
UTSW |
1 |
24,067,704 (GRCm39) |
missense |
probably benign |
0.06 |
R7661:Fam135a
|
UTSW |
1 |
24,111,843 (GRCm39) |
splice site |
probably null |
|
R7681:Fam135a
|
UTSW |
1 |
24,106,996 (GRCm39) |
missense |
probably benign |
0.03 |
R7748:Fam135a
|
UTSW |
1 |
24,068,050 (GRCm39) |
missense |
probably benign |
0.00 |
R7845:Fam135a
|
UTSW |
1 |
24,068,738 (GRCm39) |
missense |
probably benign |
0.27 |
R7849:Fam135a
|
UTSW |
1 |
24,083,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R7914:Fam135a
|
UTSW |
1 |
24,065,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R8236:Fam135a
|
UTSW |
1 |
24,059,729 (GRCm39) |
splice site |
probably null |
|
R8314:Fam135a
|
UTSW |
1 |
24,061,002 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8403:Fam135a
|
UTSW |
1 |
24,067,908 (GRCm39) |
missense |
probably benign |
0.21 |
R8416:Fam135a
|
UTSW |
1 |
24,067,675 (GRCm39) |
missense |
probably benign |
0.11 |
R8420:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
R8423:Fam135a
|
UTSW |
1 |
24,060,998 (GRCm39) |
missense |
probably damaging |
0.99 |
R8745:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
R8754:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
R8994:Fam135a
|
UTSW |
1 |
24,067,621 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Fam135a
|
UTSW |
1 |
24,069,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGTGAAATGTAGACCCAACG -3'
(R):5'- AAAGCCAGCTGCATCATTTTG -3'
Sequencing Primer
(F):5'- TGTGAAATGTAGACCCAACGATAAC -3'
(R):5'- TGAACAGTAAAGATCTAAGTTGCCCC -3'
|
Posted On |
2015-03-18 |