Incidental Mutation 'R1548:Tmem245'
ID |
172311 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem245
|
Ensembl Gene |
ENSMUSG00000055296 |
Gene Name |
transmembrane protein 245 |
Synonyms |
D730040F13Rik, A630051L19Rik |
MMRRC Submission |
039587-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R1548 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
56866923-56947437 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 56906233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 160
(Y160*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068792]
[ENSMUST00000107609]
[ENSMUST00000132816]
|
AlphaFold |
B1AZA5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068792
AA Change: Y565*
|
SMART Domains |
Protein: ENSMUSP00000067421 Gene: ENSMUSG00000055296 AA Change: Y565*
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
25 |
N/A |
INTRINSIC |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
transmembrane domain
|
109 |
131 |
N/A |
INTRINSIC |
transmembrane domain
|
144 |
166 |
N/A |
INTRINSIC |
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
transmembrane domain
|
212 |
231 |
N/A |
INTRINSIC |
transmembrane domain
|
235 |
252 |
N/A |
INTRINSIC |
low complexity region
|
309 |
330 |
N/A |
INTRINSIC |
transmembrane domain
|
351 |
373 |
N/A |
INTRINSIC |
transmembrane domain
|
457 |
479 |
N/A |
INTRINSIC |
Pfam:UPF0118
|
589 |
838 |
1.7e-14 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107609
AA Change: Y557*
|
SMART Domains |
Protein: ENSMUSP00000103234 Gene: ENSMUSG00000055296 AA Change: Y557*
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
25 |
N/A |
INTRINSIC |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
transmembrane domain
|
109 |
131 |
N/A |
INTRINSIC |
transmembrane domain
|
144 |
166 |
N/A |
INTRINSIC |
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
transmembrane domain
|
212 |
231 |
N/A |
INTRINSIC |
transmembrane domain
|
235 |
252 |
N/A |
INTRINSIC |
low complexity region
|
309 |
330 |
N/A |
INTRINSIC |
transmembrane domain
|
351 |
373 |
N/A |
INTRINSIC |
transmembrane domain
|
449 |
471 |
N/A |
INTRINSIC |
Pfam:UPF0118
|
585 |
842 |
1.1e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125082
|
Predicted Effect |
probably null
Transcript: ENSMUST00000132816
AA Change: Y160*
|
SMART Domains |
Protein: ENSMUSP00000117449 Gene: ENSMUSG00000055296 AA Change: Y160*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
Pfam:UPF0118
|
182 |
433 |
4.5e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155625
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 11,588,818 (GRCm39) |
R78S |
probably damaging |
Het |
Acad10 |
G |
C |
5: 121,764,104 (GRCm39) |
|
probably benign |
Het |
Acad10 |
G |
T |
5: 121,764,103 (GRCm39) |
|
probably benign |
Het |
Ang2 |
C |
A |
14: 51,432,990 (GRCm39) |
E131* |
probably null |
Het |
Ankfn1 |
T |
C |
11: 89,417,367 (GRCm39) |
N82D |
probably damaging |
Het |
Anks1b |
T |
C |
10: 89,885,847 (GRCm39) |
I181T |
possibly damaging |
Het |
Bcl2l12 |
C |
G |
7: 44,642,242 (GRCm39) |
G215R |
probably damaging |
Het |
Bnc2 |
A |
G |
4: 84,194,194 (GRCm39) |
Y1044H |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,038,675 (GRCm39) |
F1172S |
probably damaging |
Het |
Cct8 |
A |
G |
16: 87,282,472 (GRCm39) |
I482T |
probably damaging |
Het |
Cfap74 |
C |
T |
4: 155,518,502 (GRCm39) |
T580I |
probably benign |
Het |
Cib1 |
A |
T |
7: 79,878,162 (GRCm39) |
Y105* |
probably null |
Het |
Cpa1 |
G |
A |
6: 30,642,334 (GRCm39) |
G245D |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,845,371 (GRCm39) |
V801A |
possibly damaging |
Het |
Ddx10 |
T |
C |
9: 53,060,861 (GRCm39) |
|
probably null |
Het |
Ddx4 |
T |
C |
13: 112,736,531 (GRCm39) |
N613S |
probably damaging |
Het |
Drd3 |
A |
G |
16: 43,641,704 (GRCm39) |
D340G |
probably benign |
Het |
E2f4 |
A |
G |
8: 106,031,320 (GRCm39) |
*411W |
probably null |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Foxp1 |
A |
T |
6: 98,922,381 (GRCm39) |
I450N |
probably damaging |
Het |
Ftdc1 |
A |
T |
16: 58,436,202 (GRCm39) |
D40E |
probably benign |
Het |
Gpr19 |
A |
G |
6: 134,847,047 (GRCm39) |
F175S |
possibly damaging |
Het |
Gpr21 |
C |
T |
2: 37,408,084 (GRCm39) |
T210M |
probably damaging |
Het |
Grhl2 |
C |
T |
15: 37,336,567 (GRCm39) |
A488V |
probably benign |
Het |
Hif3a |
T |
C |
7: 16,778,328 (GRCm39) |
T435A |
probably benign |
Het |
Hoxb4 |
C |
T |
11: 96,209,725 (GRCm39) |
R44* |
probably null |
Het |
Ifi47 |
A |
G |
11: 48,986,698 (GRCm39) |
D155G |
probably damaging |
Het |
Igdcc4 |
T |
C |
9: 65,042,509 (GRCm39) |
L142P |
probably benign |
Het |
Ints6 |
G |
A |
14: 62,951,141 (GRCm39) |
P296L |
probably damaging |
Het |
Itga3 |
A |
G |
11: 94,937,745 (GRCm39) |
|
probably null |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Krtap20-1 |
G |
A |
16: 88,812,277 (GRCm39) |
|
probably benign |
Het |
Lgals12 |
A |
T |
19: 7,581,677 (GRCm39) |
H50Q |
probably benign |
Het |
Lrp12 |
A |
G |
15: 39,735,902 (GRCm39) |
S696P |
probably damaging |
Het |
Lrp6 |
G |
A |
6: 134,436,392 (GRCm39) |
T1258I |
possibly damaging |
Het |
Meis2 |
C |
T |
2: 115,889,183 (GRCm39) |
D190N |
probably damaging |
Het |
Mir100hg |
T |
C |
9: 41,492,672 (GRCm39) |
L116P |
probably damaging |
Het |
Mon2 |
C |
T |
10: 122,871,912 (GRCm39) |
|
probably benign |
Het |
Muc6 |
A |
G |
7: 141,238,368 (GRCm39) |
|
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,379,064 (GRCm39) |
H1394R |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,079,028 (GRCm39) |
I929F |
probably damaging |
Het |
Nek6 |
T |
A |
2: 38,458,907 (GRCm39) |
Y141N |
probably damaging |
Het |
Notch4 |
T |
A |
17: 34,787,396 (GRCm39) |
C319S |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,957,525 (GRCm39) |
D285V |
probably benign |
Het |
Olfml1 |
T |
C |
7: 107,189,582 (GRCm39) |
S216P |
possibly damaging |
Het |
Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
Pfkfb2 |
G |
T |
1: 130,625,820 (GRCm39) |
H453Q |
probably benign |
Het |
Pigt |
C |
T |
2: 164,343,439 (GRCm39) |
T305I |
probably benign |
Het |
Plxnb1 |
C |
T |
9: 108,929,968 (GRCm39) |
L275F |
possibly damaging |
Het |
Ppm1d |
C |
T |
11: 85,230,431 (GRCm39) |
R350C |
probably damaging |
Het |
Prss1l |
G |
T |
6: 41,372,945 (GRCm39) |
L72F |
probably damaging |
Het |
Rassf1 |
C |
A |
9: 107,429,045 (GRCm39) |
P84T |
probably benign |
Het |
Rgl3 |
G |
T |
9: 21,892,002 (GRCm39) |
R361S |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,333,533 (GRCm39) |
R2914H |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,569,435 (GRCm39) |
C4956* |
probably null |
Het |
Scaper |
C |
T |
9: 55,723,954 (GRCm39) |
R668H |
probably damaging |
Het |
Spata6 |
T |
C |
4: 111,636,203 (GRCm39) |
F165L |
probably benign |
Het |
Tcirg1 |
A |
T |
19: 3,946,845 (GRCm39) |
W694R |
probably benign |
Het |
Tshr |
T |
C |
12: 91,500,805 (GRCm39) |
Y279H |
probably damaging |
Het |
Ttf1 |
A |
C |
2: 28,955,150 (GRCm39) |
K171N |
probably damaging |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Xdh |
A |
G |
17: 74,220,896 (GRCm39) |
V611A |
probably damaging |
Het |
Zfp142 |
G |
T |
1: 74,609,263 (GRCm39) |
H1408N |
probably damaging |
Het |
|
Other mutations in Tmem245 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02472:Tmem245
|
APN |
4 |
56,899,119 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02668:Tmem245
|
APN |
4 |
56,925,081 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03093:Tmem245
|
APN |
4 |
56,886,019 (GRCm39) |
missense |
probably damaging |
1.00 |
Integral
|
UTSW |
4 |
56,899,170 (GRCm39) |
missense |
possibly damaging |
0.79 |
leibniz
|
UTSW |
4 |
56,916,770 (GRCm39) |
missense |
probably benign |
0.02 |
R0090:Tmem245
|
UTSW |
4 |
56,899,410 (GRCm39) |
missense |
probably benign |
|
R0116:Tmem245
|
UTSW |
4 |
56,926,213 (GRCm39) |
missense |
probably benign |
0.00 |
R0648:Tmem245
|
UTSW |
4 |
56,906,270 (GRCm39) |
missense |
probably benign |
0.38 |
R0864:Tmem245
|
UTSW |
4 |
56,890,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R1102:Tmem245
|
UTSW |
4 |
56,903,200 (GRCm39) |
intron |
probably benign |
|
R1778:Tmem245
|
UTSW |
4 |
56,903,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R1840:Tmem245
|
UTSW |
4 |
56,903,947 (GRCm39) |
missense |
probably benign |
0.03 |
R1942:Tmem245
|
UTSW |
4 |
56,923,511 (GRCm39) |
unclassified |
probably benign |
|
R1969:Tmem245
|
UTSW |
4 |
56,937,964 (GRCm39) |
missense |
probably benign |
0.01 |
R2341:Tmem245
|
UTSW |
4 |
56,937,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R2364:Tmem245
|
UTSW |
4 |
56,899,391 (GRCm39) |
missense |
probably damaging |
0.96 |
R3848:Tmem245
|
UTSW |
4 |
56,926,298 (GRCm39) |
unclassified |
probably benign |
|
R4591:Tmem245
|
UTSW |
4 |
56,910,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R4772:Tmem245
|
UTSW |
4 |
56,937,989 (GRCm39) |
splice site |
probably null |
|
R4779:Tmem245
|
UTSW |
4 |
56,936,468 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4860:Tmem245
|
UTSW |
4 |
56,899,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Tmem245
|
UTSW |
4 |
56,899,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R5049:Tmem245
|
UTSW |
4 |
56,925,057 (GRCm39) |
missense |
probably benign |
0.12 |
R5061:Tmem245
|
UTSW |
4 |
56,946,945 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5199:Tmem245
|
UTSW |
4 |
56,925,149 (GRCm39) |
missense |
probably benign |
0.12 |
R5377:Tmem245
|
UTSW |
4 |
56,947,084 (GRCm39) |
missense |
probably damaging |
0.99 |
R5547:Tmem245
|
UTSW |
4 |
56,910,156 (GRCm39) |
critical splice donor site |
probably null |
|
R5846:Tmem245
|
UTSW |
4 |
56,903,241 (GRCm39) |
missense |
probably benign |
0.00 |
R5851:Tmem245
|
UTSW |
4 |
56,916,770 (GRCm39) |
missense |
probably benign |
0.02 |
R5991:Tmem245
|
UTSW |
4 |
56,916,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R6314:Tmem245
|
UTSW |
4 |
56,888,592 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6992:Tmem245
|
UTSW |
4 |
56,937,940 (GRCm39) |
missense |
probably benign |
0.03 |
R7172:Tmem245
|
UTSW |
4 |
56,903,946 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7632:Tmem245
|
UTSW |
4 |
56,916,787 (GRCm39) |
missense |
probably benign |
0.00 |
R7660:Tmem245
|
UTSW |
4 |
56,899,170 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7672:Tmem245
|
UTSW |
4 |
56,947,069 (GRCm39) |
missense |
probably benign |
|
R7735:Tmem245
|
UTSW |
4 |
56,925,155 (GRCm39) |
missense |
probably benign |
0.22 |
R7900:Tmem245
|
UTSW |
4 |
56,924,973 (GRCm39) |
splice site |
probably null |
|
R8280:Tmem245
|
UTSW |
4 |
56,890,884 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8306:Tmem245
|
UTSW |
4 |
56,886,037 (GRCm39) |
missense |
probably damaging |
0.96 |
R8446:Tmem245
|
UTSW |
4 |
56,906,261 (GRCm39) |
missense |
probably benign |
0.24 |
R8447:Tmem245
|
UTSW |
4 |
56,906,261 (GRCm39) |
missense |
probably benign |
0.24 |
R8491:Tmem245
|
UTSW |
4 |
56,906,261 (GRCm39) |
missense |
probably benign |
0.24 |
R8524:Tmem245
|
UTSW |
4 |
56,906,261 (GRCm39) |
missense |
probably benign |
0.24 |
R8750:Tmem245
|
UTSW |
4 |
56,886,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R8756:Tmem245
|
UTSW |
4 |
56,899,025 (GRCm39) |
critical splice donor site |
probably null |
|
R8899:Tmem245
|
UTSW |
4 |
56,903,916 (GRCm39) |
critical splice donor site |
probably null |
|
R9035:Tmem245
|
UTSW |
4 |
56,922,384 (GRCm39) |
intron |
probably benign |
|
R9267:Tmem245
|
UTSW |
4 |
56,947,236 (GRCm39) |
missense |
probably benign |
0.03 |
R9292:Tmem245
|
UTSW |
4 |
56,926,173 (GRCm39) |
unclassified |
probably benign |
|
R9292:Tmem245
|
UTSW |
4 |
56,937,979 (GRCm39) |
missense |
probably benign |
0.07 |
R9667:Tmem245
|
UTSW |
4 |
56,947,119 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1189:Tmem245
|
UTSW |
4 |
56,937,901 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCACTGCTGGAATGGGAAGTGAAAC -3'
(R):5'- TTGTACCCTGAGACCCAGGAAGAG -3'
Sequencing Primer
(F):5'- acacacccattccaaccag -3'
(R):5'- GAATTTACTGGAACATGGAGGC -3'
|
Posted On |
2014-04-13 |