Incidental Mutation 'R5457:Fam171a2'
| ID |
432836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171a2
|
| Ensembl Gene |
ENSMUSG00000034685 |
| Gene Name |
family with sequence similarity 171, member A2 |
| Synonyms |
|
| MMRRC Submission |
043020-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R5457 (G1)
|
| Quality Score |
144 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102327807-102338508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102328362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 799
(D799G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049057]
[ENSMUST00000049460]
[ENSMUST00000125819]
[ENSMUST00000129997]
|
| AlphaFold |
A2A699 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049057
AA Change: D799G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: D799G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:UPF0560
|
41 |
820 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049460
|
| SMART Domains |
Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
GRAN
|
74 |
125 |
1.32e-22 |
SMART |
|
GRAN
|
138 |
190 |
7.38e-26 |
SMART |
|
GRAN
|
220 |
272 |
5.76e-28 |
SMART |
|
GRAN
|
295 |
346 |
1.19e-29 |
SMART |
|
GRAN
|
377 |
427 |
1.84e-26 |
SMART |
|
GRAN
|
455 |
506 |
7.1e-28 |
SMART |
|
GRAN
|
530 |
581 |
1.48e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125819
|
| SMART Domains |
Protein: ENSMUSP00000134948
Gene: ENSMUSG00000034708
| Domain | Start | End | E-Value | Type |
|---|
|
GRAN
|
42 |
72 |
5.03e-4 |
SMART |
|
GRAN
|
100 |
151 |
7.1e-28 |
SMART |
|
GRAN
|
175 |
226 |
1.48e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127530
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129997
|
| SMART Domains |
Protein: ENSMUSP00000135739
Gene: ENSMUSG00000034708
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
GRAN
|
61 |
112 |
1.32e-22 |
SMART |
|
GRAN
|
125 |
177 |
7.38e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135517
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176953
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177428
|
| SMART Domains |
Protein: ENSMUSP00000134893
Gene: ENSMUSG00000034708
| Domain | Start | End | E-Value | Type |
|---|
|
GRAN
|
1 |
49 |
8.68e-23 |
SMART |
|
GRAN
|
77 |
128 |
7.1e-28 |
SMART |
|
GRAN
|
152 |
180 |
3.98e-2 |
SMART |
|
low complexity region
|
244 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
324 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
C |
A |
8: 87,236,473 (GRCm39) |
V1114L |
probably benign |
Het |
| Actr5 |
G |
A |
2: 158,477,918 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
T |
C |
8: 89,037,649 (GRCm39) |
L239P |
probably damaging |
Het |
| Afg3l1 |
T |
A |
8: 124,216,707 (GRCm39) |
F315L |
possibly damaging |
Het |
| Agps |
A |
G |
2: 75,684,596 (GRCm39) |
Y188C |
probably benign |
Het |
| Akt1 |
T |
C |
12: 112,623,525 (GRCm39) |
T312A |
probably damaging |
Het |
| Ang2 |
T |
C |
14: 51,433,292 (GRCm39) |
Y30C |
probably damaging |
Het |
| Angpt1 |
G |
A |
15: 42,386,916 (GRCm39) |
T146I |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,702,813 (GRCm39) |
S288P |
probably damaging |
Het |
| Atp1b2 |
C |
T |
11: 69,493,558 (GRCm39) |
G4R |
probably damaging |
Het |
| Best3 |
T |
C |
10: 116,840,416 (GRCm39) |
F282S |
probably damaging |
Het |
| Cdkn2b |
A |
G |
4: 89,225,391 (GRCm39) |
L98P |
probably damaging |
Het |
| Cenps |
A |
G |
4: 149,216,094 (GRCm39) |
|
probably null |
Het |
| Clec16a |
G |
T |
16: 10,363,396 (GRCm39) |
|
probably null |
Het |
| Cxcl13 |
A |
T |
5: 96,104,830 (GRCm39) |
M1L |
unknown |
Het |
| Dcun1d4 |
A |
T |
5: 73,688,908 (GRCm39) |
E149D |
probably damaging |
Het |
| Dlst |
G |
A |
12: 85,168,914 (GRCm39) |
|
probably null |
Het |
| Dock10 |
C |
A |
1: 80,501,781 (GRCm39) |
C1803F |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,339,539 (GRCm39) |
K329N |
possibly damaging |
Het |
| Drosha |
T |
G |
15: 12,926,115 (GRCm39) |
Y1235D |
probably benign |
Het |
| Eif2s3y |
G |
A |
Y: 1,016,057 (GRCm39) |
G213D |
probably damaging |
Homo |
| Eps8 |
A |
T |
6: 137,489,175 (GRCm39) |
S408T |
probably damaging |
Het |
| Fcho2 |
T |
C |
13: 98,926,275 (GRCm39) |
K103E |
probably damaging |
Het |
| Fcrlb |
T |
C |
1: 170,739,726 (GRCm39) |
T59A |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,279,873 (GRCm39) |
R395G |
probably benign |
Het |
| Gm14496 |
A |
T |
2: 181,639,401 (GRCm39) |
D497V |
probably damaging |
Het |
| Gpt2 |
A |
C |
8: 86,238,967 (GRCm39) |
N267H |
possibly damaging |
Het |
| Grb14 |
A |
T |
2: 64,747,442 (GRCm39) |
C43S |
probably damaging |
Het |
| Hjurp |
T |
TN |
1: 88,194,247 (GRCm39) |
|
probably null |
Het |
| Igkv8-16 |
A |
G |
6: 70,363,689 (GRCm39) |
V111A |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,198,852 (GRCm39) |
S230C |
possibly damaging |
Het |
| Lamb3 |
G |
A |
1: 193,008,302 (GRCm39) |
R245H |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,821,997 (GRCm39) |
E1315G |
probably benign |
Het |
| Lpin2 |
A |
G |
17: 71,550,367 (GRCm39) |
T672A |
probably damaging |
Het |
| Mcoln3 |
T |
A |
3: 145,833,877 (GRCm39) |
I139N |
probably benign |
Het |
| Mcpt8 |
C |
T |
14: 56,319,793 (GRCm39) |
C219Y |
probably benign |
Het |
| Mtcl3 |
A |
C |
10: 29,072,720 (GRCm39) |
I671L |
probably benign |
Het |
| Mug2 |
G |
T |
6: 122,026,688 (GRCm39) |
G541* |
probably null |
Het |
| Myo7b |
G |
T |
18: 32,104,503 (GRCm39) |
|
probably null |
Het |
| Or10j2 |
C |
T |
1: 173,098,141 (GRCm39) |
S133L |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,180 (GRCm39) |
S274P |
probably damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,135,213 (GRCm39) |
I186V |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,796 (GRCm39) |
I92N |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,574 (GRCm39) |
Y146F |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,726,157 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
C |
T |
11: 94,919,408 (GRCm39) |
S289N |
probably damaging |
Het |
| Pex19 |
G |
T |
1: 171,958,245 (GRCm39) |
G75W |
probably damaging |
Het |
| Psma3 |
T |
G |
12: 71,031,339 (GRCm39) |
S26A |
probably benign |
Het |
| Pth1r |
A |
T |
9: 110,555,522 (GRCm39) |
I326N |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,912,037 (GRCm39) |
T1670A |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,523,193 (GRCm39) |
Y67H |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,330,280 (GRCm39) |
D578E |
probably benign |
Het |
| Spta1 |
C |
T |
1: 174,044,759 (GRCm39) |
A1465V |
probably damaging |
Het |
| Taar9 |
A |
G |
10: 23,985,003 (GRCm39) |
F144L |
probably damaging |
Het |
| Tal1 |
T |
C |
4: 114,925,777 (GRCm39) |
V282A |
probably benign |
Het |
| Tbrg4 |
C |
T |
11: 6,570,947 (GRCm39) |
R175Q |
probably damaging |
Het |
| Tdp1 |
C |
T |
12: 99,861,005 (GRCm39) |
Q215* |
probably null |
Het |
| Thsd4 |
A |
T |
9: 59,887,060 (GRCm39) |
W921R |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,786,787 (GRCm39) |
E3462G |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,280,355 (GRCm39) |
S60P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,541,265 (GRCm39) |
E25580G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,776,299 (GRCm39) |
I1581N |
possibly damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,781,873 (GRCm39) |
T291A |
probably damaging |
Het |
| Zkscan14 |
T |
C |
5: 145,138,169 (GRCm39) |
D106G |
probably benign |
Het |
|
| Other mutations in Fam171a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01089:Fam171a2
|
APN |
11 |
102,328,674 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01898:Fam171a2
|
APN |
11 |
102,330,582 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02477:Fam171a2
|
APN |
11 |
102,330,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03272:Fam171a2
|
APN |
11 |
102,334,944 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0102:Fam171a2
|
UTSW |
11 |
102,334,939 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0102:Fam171a2
|
UTSW |
11 |
102,334,939 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0632:Fam171a2
|
UTSW |
11 |
102,328,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0733:Fam171a2
|
UTSW |
11 |
102,330,548 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1005:Fam171a2
|
UTSW |
11 |
102,331,007 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1323:Fam171a2
|
UTSW |
11 |
102,334,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1323:Fam171a2
|
UTSW |
11 |
102,334,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2425:Fam171a2
|
UTSW |
11 |
102,329,187 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4838:Fam171a2
|
UTSW |
11 |
102,329,511 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4858:Fam171a2
|
UTSW |
11 |
102,330,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Fam171a2
|
UTSW |
11 |
102,329,559 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5384:Fam171a2
|
UTSW |
11 |
102,328,693 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5386:Fam171a2
|
UTSW |
11 |
102,328,693 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5408:Fam171a2
|
UTSW |
11 |
102,328,344 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5732:Fam171a2
|
UTSW |
11 |
102,330,807 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6466:Fam171a2
|
UTSW |
11 |
102,330,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6931:Fam171a2
|
UTSW |
11 |
102,329,260 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7196:Fam171a2
|
UTSW |
11 |
102,329,172 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7261:Fam171a2
|
UTSW |
11 |
102,328,900 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7295:Fam171a2
|
UTSW |
11 |
102,329,064 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7419:Fam171a2
|
UTSW |
11 |
102,329,628 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7422:Fam171a2
|
UTSW |
11 |
102,329,491 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7454:Fam171a2
|
UTSW |
11 |
102,330,543 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7606:Fam171a2
|
UTSW |
11 |
102,335,002 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7690:Fam171a2
|
UTSW |
11 |
102,328,660 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7754:Fam171a2
|
UTSW |
11 |
102,329,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7970:Fam171a2
|
UTSW |
11 |
102,328,692 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8060:Fam171a2
|
UTSW |
11 |
102,329,436 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8338:Fam171a2
|
UTSW |
11 |
102,329,172 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8924:Fam171a2
|
UTSW |
11 |
102,330,861 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8976:Fam171a2
|
UTSW |
11 |
102,329,451 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9116:Fam171a2
|
UTSW |
11 |
102,330,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9155:Fam171a2
|
UTSW |
11 |
102,329,497 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9346:Fam171a2
|
UTSW |
11 |
102,328,771 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1176:Fam171a2
|
UTSW |
11 |
102,338,272 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCTCCGGGATAAGAGCG -3'
(R):5'- AAGTGCGCCACTCCTACATC -3'
Sequencing Primer
(F):5'- GATAAGAGCGCATGCCCCTC -3'
(R):5'- TCCTACATCGACCTGCAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation