Incidental Mutation 'R5978:Tmem39a'
| ID |
481267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem39a
|
| Ensembl Gene |
ENSMUSG00000002845 |
| Gene Name |
transmembrane protein 39a |
| Synonyms |
|
| MMRRC Submission |
044160-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R5978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
38379060-38412524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38411392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 449
(M449K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002924]
[ENSMUST00000163884]
[ENSMUST00000163948]
[ENSMUST00000171687]
|
| AlphaFold |
Q9CYC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002924
AA Change: M449K
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000002924
Gene: ENSMUSG00000002845
AA Change: M449K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
40 |
476 |
9.4e-198 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163884
AA Change: M449K
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132515
Gene: ENSMUSG00000002845
AA Change: M449K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
|
Pfam:Tmp39
|
42 |
475 |
1.3e-198 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163948
|
| SMART Domains |
Protein: ENSMUSP00000130791
Gene: ENSMUSG00000002845
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
34 |
N/A |
INTRINSIC |
|
Pfam:Tmp39
|
35 |
164 |
7.1e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165140
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000165631
AA Change: M107K
|
| SMART Domains |
Protein: ENSMUSP00000130186
Gene: ENSMUSG00000002845
AA Change: M107K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
1 |
101 |
9.7e-49 |
PFAM |
|
Pfam:Tmp39
|
99 |
134 |
1.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166854
|
| SMART Domains |
Protein: ENSMUSP00000127040
Gene: ENSMUSG00000002845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
1 |
152 |
4.9e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171687
AA Change: M381K
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000126218
Gene: ENSMUSG00000002845
AA Change: M381K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
40 |
192 |
4.4e-62 |
PFAM |
|
Pfam:Tmp39
|
193 |
408 |
4.2e-119 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169554
|
| SMART Domains |
Protein: ENSMUSP00000127143
Gene: ENSMUSG00000002845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
1 |
190 |
2.2e-69 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks6 |
T |
A |
4: 47,049,252 (GRCm39) |
S218C |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,476,614 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
G |
5: 21,521,966 (GRCm39) |
I353L |
probably benign |
Het |
| Cst3 |
A |
T |
2: 148,714,741 (GRCm39) |
M112K |
probably benign |
Het |
| Cst3 |
T |
G |
2: 148,714,742 (GRCm39) |
M112L |
probably benign |
Het |
| Cyp2j11 |
A |
C |
4: 96,207,589 (GRCm39) |
L242R |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,037,361 (GRCm39) |
|
probably null |
Het |
| Espl1 |
A |
G |
15: 102,224,209 (GRCm39) |
I1253M |
possibly damaging |
Het |
| Fstl5 |
C |
T |
3: 76,052,392 (GRCm39) |
H41Y |
probably damaging |
Het |
| Gm11011 |
T |
C |
2: 169,426,361 (GRCm39) |
K84R |
unknown |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,113,465 (GRCm39) |
V923F |
probably damaging |
Het |
| Hnrnpll |
G |
A |
17: 80,341,620 (GRCm39) |
T473M |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,876,469 (GRCm39) |
Y845N |
probably damaging |
Het |
| Il34 |
T |
A |
8: 111,469,317 (GRCm39) |
D166V |
probably damaging |
Het |
| Kel |
T |
A |
6: 41,664,979 (GRCm39) |
H595L |
probably benign |
Het |
| Krt77 |
T |
C |
15: 101,771,363 (GRCm39) |
I313M |
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,438,665 (GRCm39) |
E274G |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,739,936 (GRCm39) |
Y818C |
probably damaging |
Het |
| Mrc1 |
A |
T |
2: 14,320,204 (GRCm39) |
Y1046F |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,424,438 (GRCm39) |
D1429V |
probably damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,388,291 (GRCm39) |
M325T |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,431,245 (GRCm39) |
I1902N |
probably damaging |
Het |
| Nkain3 |
A |
T |
4: 20,485,026 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
A |
T |
8: 95,215,221 (GRCm39) |
N940Y |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,256,703 (GRCm39) |
I107K |
probably damaging |
Het |
| Ntn5 |
T |
C |
7: 45,343,437 (GRCm39) |
S328P |
possibly damaging |
Het |
| Or1j17 |
A |
C |
2: 36,578,694 (GRCm39) |
K227Q |
probably benign |
Het |
| Parp8 |
A |
C |
13: 117,032,268 (GRCm39) |
S302A |
probably benign |
Het |
| Ptgr2 |
G |
T |
12: 84,342,032 (GRCm39) |
E27* |
probably null |
Het |
| Rnf115 |
T |
A |
3: 96,695,982 (GRCm39) |
I256N |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,502,614 (GRCm39) |
H3515L |
probably benign |
Het |
| Scel |
A |
G |
14: 103,766,690 (GRCm39) |
|
probably null |
Het |
| Slc4a5 |
T |
A |
6: 83,254,518 (GRCm39) |
S572T |
probably benign |
Het |
| Slc4a9 |
T |
G |
18: 36,668,456 (GRCm39) |
I705S |
probably damaging |
Het |
| Spint4 |
C |
T |
2: 164,542,252 (GRCm39) |
P101L |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,035,620 (GRCm39) |
D212E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,639,143 (GRCm39) |
T13877A |
possibly damaging |
Het |
| Ube2v2 |
T |
C |
16: 15,394,991 (GRCm39) |
N20S |
probably benign |
Het |
| Vmn1r14 |
C |
T |
6: 57,210,929 (GRCm39) |
S169F |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,849,181 (GRCm39) |
H2410R |
probably benign |
Het |
| Wdr81 |
G |
A |
11: 75,335,224 (GRCm39) |
L1781F |
probably damaging |
Het |
| Zfp91 |
A |
G |
19: 12,747,515 (GRCm39) |
I536T |
probably benign |
Het |
|
| Other mutations in Tmem39a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03276:Tmem39a
|
APN |
16 |
38,405,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0270:Tmem39a
|
UTSW |
16 |
38,384,675 (GRCm39) |
splice site |
probably benign |
|
|
R0382:Tmem39a
|
UTSW |
16 |
38,411,760 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0539:Tmem39a
|
UTSW |
16 |
38,411,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0743:Tmem39a
|
UTSW |
16 |
38,405,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1324:Tmem39a
|
UTSW |
16 |
38,393,531 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4052:Tmem39a
|
UTSW |
16 |
38,406,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Tmem39a
|
UTSW |
16 |
38,411,524 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4919:Tmem39a
|
UTSW |
16 |
38,405,561 (GRCm39) |
missense |
probably benign |
|
|
R5109:Tmem39a
|
UTSW |
16 |
38,411,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5901:Tmem39a
|
UTSW |
16 |
38,393,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5979:Tmem39a
|
UTSW |
16 |
38,396,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6375:Tmem39a
|
UTSW |
16 |
38,405,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7357:Tmem39a
|
UTSW |
16 |
38,406,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Tmem39a
|
UTSW |
16 |
38,408,658 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8114:Tmem39a
|
UTSW |
16 |
38,411,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Tmem39a
|
UTSW |
16 |
38,411,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9756:Tmem39a
|
UTSW |
16 |
38,396,126 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Tmem39a
|
UTSW |
16 |
38,396,140 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1176:Tmem39a
|
UTSW |
16 |
38,408,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTATGTGCGCTTATAACTATGC -3'
(R):5'- ATGTCACTCCAGAGCCAGAC -3'
Sequencing Primer
(F):5'- TGTGCGCTTATAACTATGCAATTG -3'
(R):5'- CAAGTCAATCTTTTACTGAAGGGGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation