Incidental Mutation 'R3962:Fam161a'
| ID |
312135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam161a
|
| Ensembl Gene |
ENSMUSG00000049811 |
| Gene Name |
family with sequence similarity 161, member A |
| Synonyms |
4930430E16Rik |
| MMRRC Submission |
040837-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
22957531-22980788 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22973507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 275
(M275T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058269]
[ENSMUST00000109557]
[ENSMUST00000151877]
[ENSMUST00000172602]
[ENSMUST00000173923]
|
| AlphaFold |
Q8QZV6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058269
AA Change: M463T
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000063091
Gene: ENSMUSG00000049811
AA Change: M463T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
11 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
95 |
N/A |
INTRINSIC |
|
Pfam:UPF0564
|
150 |
401 |
4.7e-74 |
PFAM |
|
Pfam:UPF0564
|
398 |
451 |
5.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094363
|
| SMART Domains |
Protein: ENSMUSP00000091923
Gene: ENSMUSG00000049811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0564
|
1 |
136 |
3.6e-15 |
PFAM |
|
low complexity region
|
181 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109557
AA Change: M463T
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105184
Gene: ENSMUSG00000049811
AA Change: M463T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
11 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
95 |
N/A |
INTRINSIC |
|
Pfam:UPF0564
|
150 |
350 |
8.1e-36 |
PFAM |
|
low complexity region
|
396 |
417 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151877
AA Change: M275T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121167
Gene: ENSMUSG00000049811
AA Change: M275T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0564
|
1 |
263 |
2.2e-41 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172602
AA Change: M463T
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134485
Gene: ENSMUSG00000049811
AA Change: M463T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
11 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
95 |
N/A |
INTRINSIC |
|
Pfam:UPF0564
|
150 |
401 |
4.7e-74 |
PFAM |
|
Pfam:UPF0564
|
398 |
451 |
5.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173923
|
| SMART Domains |
Protein: ENSMUSP00000133293
Gene: ENSMUSG00000049811
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
11 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208732
AA Change: M460T
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele show early loss of visual function associated with alterations in photoreceptor ciliary structure, abnormal photoreceptor outer segment morphology, microgliosis, and progressive retinal photoreceptor degeneration. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4) |
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abca12 |
A |
T |
1: 71,313,674 (GRCm39) |
|
probably null |
Het |
| Ablim2 |
C |
T |
5: 35,969,519 (GRCm39) |
R211C |
probably damaging |
Het |
| Actn4 |
C |
A |
7: 28,597,647 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
| Bod1l |
T |
G |
5: 41,966,064 (GRCm39) |
E2667A |
probably benign |
Het |
| Ccdc13 |
G |
A |
9: 121,628,005 (GRCm39) |
|
probably benign |
Het |
| Ccdc15 |
G |
T |
9: 37,231,782 (GRCm39) |
R181S |
probably damaging |
Het |
| Ccnd1 |
G |
A |
7: 144,487,787 (GRCm39) |
T230M |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,977,372 (GRCm39) |
T95A |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
| Galk2 |
A |
T |
2: 125,735,293 (GRCm39) |
N107I |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,708,911 (GRCm39) |
|
probably benign |
Het |
| Gm5082 |
T |
C |
13: 41,809,894 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
T |
1: 16,838,868 (GRCm39) |
|
noncoding transcript |
Het |
| Haus6 |
C |
T |
4: 86,530,041 (GRCm39) |
A4T |
possibly damaging |
Het |
| Hmgcs2 |
G |
A |
3: 98,198,354 (GRCm39) |
V86M |
possibly damaging |
Het |
| Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 114,976,054 (GRCm39) |
V1106E |
probably damaging |
Het |
| Itga9 |
G |
A |
9: 118,457,254 (GRCm39) |
D122N |
possibly damaging |
Het |
| Kif21a |
T |
A |
15: 90,869,612 (GRCm39) |
E413V |
probably damaging |
Het |
| Klk1 |
A |
G |
7: 43,878,973 (GRCm39) |
T256A |
possibly damaging |
Het |
| L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
| Larp4 |
C |
A |
15: 99,910,026 (GRCm39) |
Q652K |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Moxd2 |
T |
A |
6: 40,862,331 (GRCm39) |
M163L |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,370,654 (GRCm39) |
R1138H |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,035,808 (GRCm39) |
D28G |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,104,535 (GRCm39) |
I219N |
probably damaging |
Het |
| Platr26 |
A |
T |
2: 71,549,849 (GRCm39) |
|
noncoding transcript |
Het |
| Ptdss1 |
A |
G |
13: 67,142,075 (GRCm39) |
H411R |
probably benign |
Het |
| Ptpra |
A |
G |
2: 30,325,672 (GRCm39) |
T147A |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,092,302 (GRCm39) |
Y307C |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,108,302 (GRCm39) |
V525A |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,533,398 (GRCm39) |
S1007G |
probably damaging |
Het |
| Spmip5 |
A |
G |
19: 58,777,541 (GRCm39) |
Y82H |
probably damaging |
Het |
| Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,953,054 (GRCm39) |
I219M |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,662,068 (GRCm39) |
|
probably null |
Het |
| Tfap2d |
A |
G |
1: 19,189,189 (GRCm39) |
N245S |
probably damaging |
Het |
| Tlr6 |
T |
A |
5: 65,112,328 (GRCm39) |
H193L |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,164,352 (GRCm39) |
V78A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,840,140 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
A |
G |
9: 43,986,954 (GRCm39) |
D84G |
possibly damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,466 (GRCm39) |
N223S |
probably benign |
Het |
| Wnk2 |
C |
A |
13: 49,224,453 (GRCm39) |
R1122L |
probably damaging |
Het |
|
| Other mutations in Fam161a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01099:Fam161a
|
APN |
11 |
22,965,894 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01457:Fam161a
|
APN |
11 |
22,970,702 (GRCm39) |
nonsense |
probably null |
|
|
IGL01823:Fam161a
|
APN |
11 |
22,965,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02111:Fam161a
|
APN |
11 |
22,970,026 (GRCm39) |
missense |
probably benign |
0.05 |
|
3-1:Fam161a
|
UTSW |
11 |
22,973,429 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0531:Fam161a
|
UTSW |
11 |
22,970,298 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1524:Fam161a
|
UTSW |
11 |
22,965,826 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1550:Fam161a
|
UTSW |
11 |
22,970,470 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1599:Fam161a
|
UTSW |
11 |
22,971,093 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3744:Fam161a
|
UTSW |
11 |
22,970,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Fam161a
|
UTSW |
11 |
22,970,798 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4607:Fam161a
|
UTSW |
11 |
22,970,710 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4820:Fam161a
|
UTSW |
11 |
22,970,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Fam161a
|
UTSW |
11 |
22,970,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5207:Fam161a
|
UTSW |
11 |
22,970,583 (GRCm39) |
nonsense |
probably null |
|
|
R5645:Fam161a
|
UTSW |
11 |
22,965,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5705:Fam161a
|
UTSW |
11 |
22,978,869 (GRCm39) |
missense |
unknown |
|
|
R7107:Fam161a
|
UTSW |
11 |
22,973,452 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7203:Fam161a
|
UTSW |
11 |
22,971,664 (GRCm39) |
splice site |
probably null |
|
|
R7242:Fam161a
|
UTSW |
11 |
22,970,037 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7286:Fam161a
|
UTSW |
11 |
22,970,001 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7483:Fam161a
|
UTSW |
11 |
22,971,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8027:Fam161a
|
UTSW |
11 |
22,970,125 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8878:Fam161a
|
UTSW |
11 |
22,970,092 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9375:Fam161a
|
UTSW |
11 |
22,970,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Fam161a
|
UTSW |
11 |
22,973,495 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGTCTAGAAAAGGAACTG -3'
(R):5'- GCTACAAGCGTTGTCACATC -3'
Sequencing Primer
(F):5'- AACTGGGCTGAGCTGTGC -3'
(R):5'- GCTACAAGCGTTGTCACATCTTAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation