Incidental Mutation 'IGL01578:Fam149a'
| ID |
91336 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam149a
|
| Ensembl Gene |
ENSMUSG00000070044 |
| Gene Name |
family with sequence similarity 149, member A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
45789754-45835328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45803479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 337
(D337E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093526]
[ENSMUST00000155230]
|
| AlphaFold |
Q8CFV2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093526
AA Change: D418E
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: D418E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
274 |
N/A |
INTRINSIC |
|
Pfam:DUF3719
|
305 |
370 |
4.3e-30 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135912
AA Change: D371E
|
| SMART Domains |
Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: D371E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
228 |
N/A |
INTRINSIC |
|
Pfam:DUF3719
|
259 |
324 |
2.7e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155230
AA Change: D337E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: D337E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
193 |
N/A |
INTRINSIC |
|
Pfam:DUF3719
|
224 |
291 |
5.8e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
G |
A |
17: 68,165,195 (GRCm39) |
T516I |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,955,192 (GRCm39) |
C3486R |
probably benign |
Het |
| Camk2g |
G |
A |
14: 20,797,922 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,300,194 (GRCm39) |
E3167G |
unknown |
Het |
| Dmxl1 |
T |
A |
18: 50,095,272 (GRCm39) |
H2950Q |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,800,870 (GRCm39) |
S379T |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,555,704 (GRCm39) |
H13Y |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,842,361 (GRCm39) |
|
probably benign |
Het |
| Gm6489 |
G |
T |
1: 31,326,416 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
G |
A |
4: 137,266,494 (GRCm39) |
R1885H |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,941,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,809,503 (GRCm39) |
N216K |
probably benign |
Het |
| Ndst1 |
T |
C |
18: 60,846,198 (GRCm39) |
Y37C |
probably damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,139,019 (GRCm39) |
N486S |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,890,506 (GRCm39) |
L7342Q |
unknown |
Het |
| Or13l2 |
A |
T |
3: 97,318,036 (GRCm39) |
C154S |
probably damaging |
Het |
| Or56b2 |
A |
G |
7: 104,338,052 (GRCm39) |
I277V |
probably benign |
Het |
| Or8k20 |
C |
A |
2: 86,106,085 (GRCm39) |
V249F |
probably damaging |
Het |
| Pou4f2 |
A |
C |
8: 79,162,284 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,551,001 (GRCm39) |
P10S |
unknown |
Het |
| Psd2 |
A |
G |
18: 36,112,838 (GRCm39) |
T178A |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,637,038 (GRCm39) |
N391K |
probably damaging |
Het |
| Slc25a34 |
G |
T |
4: 141,349,821 (GRCm39) |
|
probably null |
Het |
| Stap2 |
A |
G |
17: 56,304,623 (GRCm39) |
S360P |
probably benign |
Het |
| Stx3 |
T |
C |
19: 11,763,969 (GRCm39) |
E129G |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,979,436 (GRCm39) |
E28D |
probably damaging |
Het |
| Tmem126a |
C |
T |
7: 90,100,750 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,863,511 (GRCm39) |
S608P |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,711,297 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fam149a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Fam149a
|
APN |
8 |
45,792,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00229:Fam149a
|
APN |
8 |
45,804,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01089:Fam149a
|
APN |
8 |
45,801,564 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03095:Fam149a
|
APN |
8 |
45,794,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03112:Fam149a
|
APN |
8 |
45,801,580 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
guangxi
|
UTSW |
8 |
45,834,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Fam149a
|
UTSW |
8 |
45,804,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0111:Fam149a
|
UTSW |
8 |
45,794,183 (GRCm39) |
splice site |
probably benign |
|
|
R0113:Fam149a
|
UTSW |
8 |
45,794,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Fam149a
|
UTSW |
8 |
45,808,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0604:Fam149a
|
UTSW |
8 |
45,798,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:Fam149a
|
UTSW |
8 |
45,808,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Fam149a
|
UTSW |
8 |
45,792,411 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1861:Fam149a
|
UTSW |
8 |
45,792,399 (GRCm39) |
nonsense |
probably null |
|
|
R1981:Fam149a
|
UTSW |
8 |
45,834,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Fam149a
|
UTSW |
8 |
45,806,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Fam149a
|
UTSW |
8 |
45,794,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3807:Fam149a
|
UTSW |
8 |
45,834,647 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4176:Fam149a
|
UTSW |
8 |
45,794,321 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4913:Fam149a
|
UTSW |
8 |
45,806,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5158:Fam149a
|
UTSW |
8 |
45,803,472 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5172:Fam149a
|
UTSW |
8 |
45,797,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5436:Fam149a
|
UTSW |
8 |
45,801,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6060:Fam149a
|
UTSW |
8 |
45,811,799 (GRCm39) |
intron |
probably benign |
|
|
R6426:Fam149a
|
UTSW |
8 |
45,834,611 (GRCm39) |
missense |
probably benign |
|
|
R6590:Fam149a
|
UTSW |
8 |
45,802,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6596:Fam149a
|
UTSW |
8 |
45,834,667 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6690:Fam149a
|
UTSW |
8 |
45,802,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Fam149a
|
UTSW |
8 |
45,834,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Fam149a
|
UTSW |
8 |
45,834,478 (GRCm39) |
missense |
probably benign |
|
|
R6916:Fam149a
|
UTSW |
8 |
45,803,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Fam149a
|
UTSW |
8 |
45,803,582 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7219:Fam149a
|
UTSW |
8 |
45,803,600 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7352:Fam149a
|
UTSW |
8 |
45,794,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7454:Fam149a
|
UTSW |
8 |
45,801,583 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7591:Fam149a
|
UTSW |
8 |
45,803,472 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7788:Fam149a
|
UTSW |
8 |
45,834,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Fam149a
|
UTSW |
8 |
45,811,678 (GRCm39) |
missense |
|
|
|
R7915:Fam149a
|
UTSW |
8 |
45,794,280 (GRCm39) |
missense |
probably benign |
|
|
R8036:Fam149a
|
UTSW |
8 |
45,802,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8181:Fam149a
|
UTSW |
8 |
45,834,755 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8239:Fam149a
|
UTSW |
8 |
45,803,490 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8246:Fam149a
|
UTSW |
8 |
45,834,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8532:Fam149a
|
UTSW |
8 |
45,801,991 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8856:Fam149a
|
UTSW |
8 |
45,834,611 (GRCm39) |
missense |
|
|
|
R8986:Fam149a
|
UTSW |
8 |
45,811,837 (GRCm39) |
missense |
|
|
|
R9448:Fam149a
|
UTSW |
8 |
45,792,411 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9704:Fam149a
|
UTSW |
8 |
45,795,502 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9794:Fam149a
|
UTSW |
8 |
45,834,449 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1176:Fam149a
|
UTSW |
8 |
45,795,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2013-12-09 |
Incidental Mutation