Incidental Mutation 'R7646:Fam135a'
ID |
590513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135a
|
Ensembl Gene |
ENSMUSG00000026153 |
Gene Name |
family with sequence similarity 135, member A |
Synonyms |
4921533L14Rik |
MMRRC Submission |
045724-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R7646 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24067704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 1055
(H1055R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027337]
[ENSMUST00000185807]
[ENSMUST00000186331]
[ENSMUST00000186999]
[ENSMUST00000187369]
[ENSMUST00000187752]
[ENSMUST00000188712]
|
AlphaFold |
Q6NS59 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027337
AA Change: H1055R
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000027337 Gene: ENSMUSG00000026153 AA Change: H1055R
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 |
probably benign
Transcript: ENSMUST00000185807
|
SMART Domains |
Protein: ENSMUSP00000140078 Gene: ENSMUSG00000026153
Domain | Start | End | E-Value | Type |
Blast:LRRNT
|
27 |
60 |
4e-7 |
BLAST |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
Pfam:DUF676
|
104 |
161 |
2.2e-15 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186331
AA Change: H155R
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140947 Gene: ENSMUSG00000026153 AA Change: H155R
Domain | Start | End | E-Value | Type |
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
Blast:LRRNT
|
239 |
272 |
1e-6 |
BLAST |
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186999
|
SMART Domains |
Protein: ENSMUSP00000140198 Gene: ENSMUSG00000026153
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 benign
Transcript: ENSMUST00000187369
AA Change: H859R
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000140766 Gene: ENSMUSG00000026153 AA Change: H859R
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 benign
Transcript: ENSMUST00000187619
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187752
AA Change: H842R
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000139633 Gene: ENSMUSG00000026153 AA Change: H842R
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 benign
Transcript: ENSMUST00000188712
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,113,937 (GRCm39) |
H936R |
probably benign |
Het |
Afg3l1 |
C |
A |
8: 124,219,766 (GRCm39) |
D431E |
possibly damaging |
Het |
Agrn |
T |
C |
4: 156,279,811 (GRCm39) |
N120S |
probably damaging |
Het |
Apob |
A |
G |
12: 8,059,189 (GRCm39) |
D2557G |
probably damaging |
Het |
Atl2 |
A |
G |
17: 80,162,036 (GRCm39) |
Y359H |
probably damaging |
Het |
Banp |
T |
C |
8: 122,750,775 (GRCm39) |
S489P |
possibly damaging |
Het |
Cage1 |
A |
G |
13: 38,206,823 (GRCm39) |
C341R |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,140,931 (GRCm39) |
N3139S |
possibly damaging |
Het |
Chd2 |
G |
T |
7: 73,085,521 (GRCm39) |
S1704R |
possibly damaging |
Het |
Col4a2 |
T |
A |
8: 11,495,086 (GRCm39) |
F1515I |
probably benign |
Het |
Crocc |
T |
A |
4: 140,748,966 (GRCm39) |
Q1613L |
probably null |
Het |
Cttnbp2 |
A |
T |
6: 18,375,939 (GRCm39) |
S1533R |
probably damaging |
Het |
Dlgap5 |
C |
T |
14: 47,636,976 (GRCm39) |
|
probably null |
Het |
Dnah8 |
G |
A |
17: 30,868,651 (GRCm39) |
D362N |
probably benign |
Het |
Elf5 |
G |
T |
2: 103,269,588 (GRCm39) |
K56N |
probably benign |
Het |
Emsy |
G |
A |
7: 98,268,560 (GRCm39) |
P508S |
probably damaging |
Het |
Fh1 |
C |
T |
1: 175,442,479 (GRCm39) |
V124I |
probably benign |
Het |
Gbf1 |
T |
A |
19: 46,272,111 (GRCm39) |
D1610E |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,155,257 (GRCm39) |
K415E |
probably benign |
Het |
Glyr1 |
T |
C |
16: 4,836,361 (GRCm39) |
D496G |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,784,361 (GRCm39) |
I1342V |
probably benign |
Het |
Hoxa7 |
A |
G |
6: 52,192,699 (GRCm39) |
*230Q |
probably null |
Het |
Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
Ildr1 |
T |
A |
16: 36,542,281 (GRCm39) |
M271K |
possibly damaging |
Het |
Klk1b22 |
T |
G |
7: 43,765,542 (GRCm39) |
|
probably null |
Het |
Lig3 |
T |
A |
11: 82,674,304 (GRCm39) |
N43K |
probably benign |
Het |
Mcmdc2 |
A |
G |
1: 9,982,360 (GRCm39) |
T83A |
possibly damaging |
Het |
Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
T |
7: 135,298,498 (GRCm39) |
S2179T |
possibly damaging |
Het |
Mrpl38 |
G |
A |
11: 116,023,593 (GRCm39) |
S282L |
probably damaging |
Het |
Ndst2 |
A |
G |
14: 20,774,527 (GRCm39) |
|
probably null |
Het |
Nlrp4a |
C |
G |
7: 26,148,987 (GRCm39) |
A198G |
probably damaging |
Het |
Nup98 |
A |
C |
7: 101,803,242 (GRCm39) |
S653A |
probably benign |
Het |
Or12e8 |
A |
G |
2: 87,188,102 (GRCm39) |
I105V |
probably benign |
Het |
Or13a27 |
A |
G |
7: 139,925,864 (GRCm39) |
F13L |
probably damaging |
Het |
Or14j10 |
G |
T |
17: 37,935,295 (GRCm39) |
T77K |
probably damaging |
Het |
Or51ai2 |
G |
A |
7: 103,587,504 (GRCm39) |
A306T |
probably damaging |
Het |
Or8k37 |
C |
A |
2: 86,469,513 (GRCm39) |
D180Y |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,570,909 (GRCm39) |
D98V |
probably damaging |
Het |
Peg3 |
A |
T |
7: 6,712,221 (GRCm39) |
D1000E |
probably benign |
Het |
Polr3h |
A |
G |
15: 81,801,571 (GRCm39) |
Y131H |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,516,780 (GRCm39) |
I346V |
probably benign |
Het |
Rufy1 |
T |
A |
11: 50,301,436 (GRCm39) |
K332M |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,118,102 (GRCm39) |
M404V |
possibly damaging |
Het |
Septin8 |
T |
A |
11: 53,428,744 (GRCm39) |
|
probably null |
Het |
Sesn3 |
A |
G |
9: 14,219,911 (GRCm39) |
D100G |
probably damaging |
Het |
Setx |
A |
G |
2: 29,067,561 (GRCm39) |
I2388V |
possibly damaging |
Het |
Skint5 |
T |
A |
4: 113,620,739 (GRCm39) |
|
probably null |
Het |
Slc25a23 |
C |
T |
17: 57,366,759 (GRCm39) |
|
probably benign |
Het |
Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
Slco3a1 |
G |
A |
7: 74,154,344 (GRCm39) |
A76V |
probably damaging |
Het |
Stradb |
A |
T |
1: 59,033,567 (GRCm39) |
D410V |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,122,949 (GRCm39) |
D329G |
probably damaging |
Het |
Syt4 |
A |
C |
18: 31,574,658 (GRCm39) |
S320A |
possibly damaging |
Het |
Tnfsf4 |
A |
G |
1: 161,244,733 (GRCm39) |
T141A |
possibly damaging |
Het |
Trim34b |
G |
A |
7: 103,984,559 (GRCm39) |
A279T |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,845,325 (GRCm39) |
D1675V |
probably benign |
Het |
Vmn2r24 |
T |
A |
6: 123,793,169 (GRCm39) |
M832K |
probably benign |
Het |
Wdr90 |
A |
G |
17: 26,079,104 (GRCm39) |
V246A |
probably benign |
Het |
Xkr6 |
G |
T |
14: 63,844,423 (GRCm39) |
D149Y |
probably damaging |
Het |
Zfp108 |
A |
G |
7: 23,960,840 (GRCm39) |
Y477C |
probably damaging |
Het |
Zfp37 |
T |
G |
4: 62,109,532 (GRCm39) |
I552L |
probably damaging |
Het |
Zfp426 |
A |
T |
9: 20,381,320 (GRCm39) |
S556T |
probably damaging |
Het |
Zfp954 |
G |
A |
7: 7,118,720 (GRCm39) |
L275F |
possibly 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 |
R3725:Fam135a
|
UTSW |
1 |
24,096,515 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- AGCACTCAGATAGTTGCTGC -3'
(R):5'- GGGCTCAGTGCAGATAGAAC -3'
Sequencing Primer
(F):5'- ATAGTTGCTGCTTAGTTTTTCAGAC -3'
(R):5'- TGCAGATAGAACTGTGGAAGG -3'
|
Posted On |
2019-10-24 |