Incidental Mutation 'R8239:Fam149a'
| ID |
637508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam149a
|
| Ensembl Gene |
ENSMUSG00000070044 |
| Gene Name |
family with sequence similarity 149, member A |
| Synonyms |
|
| MMRRC Submission |
067646-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
45789754-45835328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45803490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 415
(Y415H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093526]
[ENSMUST00000155230]
|
| AlphaFold |
Q8CFV2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093526
AA Change: Y415H
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: Y415H
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: Y368H
| 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 |
possibly damaging
Transcript: ENSMUST00000155230
AA Change: Y334H
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: Y334H
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
C |
8: 41,278,106 (GRCm39) |
S166P |
probably damaging |
Het |
| Appl1 |
T |
A |
14: 26,686,914 (GRCm39) |
T19S |
probably damaging |
Het |
| Arid4b |
T |
A |
13: 14,344,594 (GRCm39) |
D557E |
probably benign |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| C2cd2l |
T |
C |
9: 44,227,502 (GRCm39) |
E307G |
possibly damaging |
Het |
| Cdh20 |
A |
C |
1: 110,027,832 (GRCm39) |
T526P |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,414,718 (GRCm39) |
V775M |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,969,673 (GRCm39) |
N63S |
probably benign |
Het |
| Dtnb |
A |
T |
12: 3,694,056 (GRCm39) |
Y248F |
unknown |
Het |
| Ehbp1l1 |
T |
A |
19: 5,770,089 (GRCm39) |
T405S |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,839,191 (GRCm39) |
L2351P |
unknown |
Het |
| Fsip2 |
T |
G |
2: 82,819,687 (GRCm39) |
I5140S |
possibly damaging |
Het |
| Gm8674 |
T |
C |
13: 50,054,262 (GRCm39) |
T749A |
noncoding transcript |
Het |
| Kalrn |
A |
G |
16: 33,870,153 (GRCm39) |
V1894A |
noncoding transcript |
Het |
| Kpna3 |
A |
T |
14: 61,624,919 (GRCm39) |
N141K |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,449,882 (GRCm39) |
G2067D |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,311,611 (GRCm39) |
Y2622* |
probably null |
Het |
| Lrtm2 |
A |
C |
6: 119,297,778 (GRCm39) |
F88V |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,429,333 (GRCm39) |
S454P |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,253,753 (GRCm39) |
P40S |
probably benign |
Het |
| Or2b7 |
T |
C |
13: 21,739,788 (GRCm39) |
I135V |
probably benign |
Het |
| Or4a76 |
T |
A |
2: 89,460,907 (GRCm39) |
I112F |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Or8k27 |
C |
A |
2: 86,275,473 (GRCm39) |
M284I |
noncoding transcript |
Het |
| Patj |
A |
G |
4: 98,570,308 (GRCm39) |
E1711G |
possibly damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,086,128 (GRCm39) |
I104F |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plekhg4 |
C |
T |
8: 106,107,546 (GRCm39) |
R990* |
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,386,930 (GRCm39) |
S343P |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,241 (GRCm39) |
K269N |
probably damaging |
Het |
| Psmd13 |
T |
A |
7: 140,466,450 (GRCm39) |
I79K |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,069,309 (GRCm39) |
D1586G |
possibly damaging |
Het |
| Ptprh |
T |
A |
7: 4,584,090 (GRCm39) |
Q167H |
probably damaging |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,077,848 (GRCm39) |
M20T |
probably damaging |
Het |
| Scrn2 |
T |
G |
11: 96,923,046 (GRCm39) |
L163R |
probably damaging |
Het |
| Slc36a3 |
C |
T |
11: 55,022,433 (GRCm39) |
V254I |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,701,951 (GRCm39) |
F120L |
probably benign |
Het |
| Slc8a2 |
A |
T |
7: 15,879,230 (GRCm39) |
H572L |
probably benign |
Het |
| Spats2 |
T |
A |
15: 99,106,776 (GRCm39) |
D357E |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,395,677 (GRCm39) |
N1816I |
probably damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,433,361 (GRCm39) |
V2A |
unknown |
Het |
| Susd3 |
T |
C |
13: 49,384,731 (GRCm39) |
T231A |
probably benign |
Het |
| Tamalin |
C |
T |
15: 101,128,902 (GRCm39) |
L217F |
probably damaging |
Het |
| Tcp1 |
A |
G |
17: 13,139,738 (GRCm39) |
D261G |
probably benign |
Het |
| Trpm2 |
C |
G |
10: 77,771,836 (GRCm39) |
S601T |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,571,659 (GRCm39) |
F124L |
probably benign |
Het |
| Unc80 |
G |
T |
1: 66,693,178 (GRCm39) |
E2522D |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,396,750 (GRCm39) |
T2365A |
|
Het |
| Vmn2r92 |
G |
T |
17: 18,405,278 (GRCm39) |
M807I |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,597,550 (GRCm39) |
P1030Q |
probably damaging |
Het |
| Wrn |
T |
G |
8: 33,819,213 (GRCm39) |
K246N |
probably damaging |
Het |
| Zer1 |
T |
A |
2: 29,991,147 (GRCm39) |
|
probably null |
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 |
|
IGL01578:Fam149a
|
APN |
8 |
45,803,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTAGCTCTAACACTTACATGTC -3'
(R):5'- CACTGGCATGCAAGCATTAC -3'
Sequencing Primer
(F):5'- ACCAAGATCTAACCTCTTTGGGG -3'
(R):5'- CTGGCATGCAAGCATTACATTCTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation