Incidental Mutation 'IGL00494:Xntrpc'
| ID |
5193 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xntrpc
|
| Ensembl Gene |
ENSMUSG00000070425 |
| Gene Name |
Xndc1-transient receptor potential cation channel, subfamily C, member 2 readthrough |
| Synonyms |
Xndr-trpc2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
IGL00494
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101714920-101746071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101736754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 327
(L327Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084843]
[ENSMUST00000094129]
[ENSMUST00000094130]
[ENSMUST00000106950]
[ENSMUST00000123372]
[ENSMUST00000124189]
[ENSMUST00000139104]
[ENSMUST00000142629]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084843
AA Change: L701Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425
AA Change: L701Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
150 |
1.4e-54 |
PFAM |
|
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
428 |
N/A |
INTRINSIC |
|
ANK
|
439 |
469 |
1.58e3 |
SMART |
|
low complexity region
|
484 |
496 |
N/A |
INTRINSIC |
|
ANK
|
522 |
551 |
1.74e0 |
SMART |
|
Pfam:TRP_2
|
557 |
619 |
1e-24 |
PFAM |
|
Pfam:Ion_trans
|
716 |
1024 |
1.7e-24 |
PFAM |
|
Pfam:PKD_channel
|
774 |
1019 |
2.4e-12 |
PFAM |
|
low complexity region
|
1070 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1104 |
N/A |
INTRINSIC |
|
coiled coil region
|
1122 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1236 |
N/A |
INTRINSIC |
|
low complexity region
|
1247 |
1263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094129
AA Change: L701Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091679
Gene: ENSMUSG00000070425
AA Change: L701Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
152 |
1.2e-27 |
PFAM |
|
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
428 |
N/A |
INTRINSIC |
|
ANK
|
439 |
469 |
1.58e3 |
SMART |
|
low complexity region
|
484 |
496 |
N/A |
INTRINSIC |
|
ANK
|
522 |
551 |
1.74e0 |
SMART |
|
Pfam:TRP_2
|
557 |
619 |
2.8e-28 |
PFAM |
|
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
772 |
1019 |
3.8e-12 |
PFAM |
|
Pfam:Ion_trans
|
796 |
1012 |
3.9e-31 |
PFAM |
|
low complexity region
|
1070 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1104 |
N/A |
INTRINSIC |
|
coiled coil region
|
1122 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1236 |
N/A |
INTRINSIC |
|
low complexity region
|
1247 |
1263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094130
|
| SMART Domains |
Protein: ENSMUSP00000091680
Gene: ENSMUSG00000099481
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
152 |
5.2e-29 |
PFAM |
|
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
311 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
324 |
345 |
2.69e-6 |
PROSPERO |
|
low complexity region
|
346 |
379 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
380 |
401 |
2.69e-6 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106950
|
| SMART Domains |
Protein: ENSMUSP00000102563
Gene: ENSMUSG00000099481
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
152 |
5.2e-29 |
PFAM |
|
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
311 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
324 |
345 |
2.69e-6 |
PROSPERO |
|
low complexity region
|
346 |
379 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
380 |
401 |
2.69e-6 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123372
|
| SMART Domains |
Protein: ENSMUSP00000121068
Gene: ENSMUSG00000070425
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
152 |
5.2e-29 |
PFAM |
|
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
311 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
324 |
345 |
2.69e-6 |
PROSPERO |
|
low complexity region
|
346 |
379 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
380 |
401 |
2.69e-6 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124189
AA Change: L327Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254
AA Change: L327Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
ANK
|
65 |
95 |
1.58e3 |
SMART |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
ANK
|
148 |
177 |
1.74e0 |
SMART |
|
Pfam:TRP_2
|
183 |
245 |
9.1e-29 |
PFAM |
|
transmembrane domain
|
345 |
367 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
398 |
645 |
1.4e-12 |
PFAM |
|
Pfam:Ion_trans
|
422 |
638 |
1e-31 |
PFAM |
|
low complexity region
|
696 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
730 |
N/A |
INTRINSIC |
|
coiled coil region
|
748 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
862 |
N/A |
INTRINSIC |
|
low complexity region
|
873 |
889 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139104
|
| SMART Domains |
Protein: ENSMUSP00000122430
Gene: ENSMUSG00000070425
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
62 |
3.5e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140395
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155078
|
| SMART Domains |
Protein: ENSMUSP00000123466
Gene: ENSMUSG00000070425
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
62 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142629
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Xndr (XRCC1 N-terminal domain-related) and Trpc2 (transient receptor potential cation channel, subfamily C, member 2) genes on chromosome 7. Readthrough transcripts include one that encodes a fusion protein that shares sequence identity with each individual gene product and one that is a candidate for nonsense-mediated mRNA decay (NMD), and thus is unlikely to produce a protein product. [provided by RefSeq, Nov 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,621,108 (GRCm39) |
T271A |
possibly damaging |
Het |
| Amer3 |
A |
G |
1: 34,627,608 (GRCm39) |
T616A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,818,907 (GRCm39) |
M1216K |
probably damaging |
Het |
| Clec16a |
A |
T |
16: 10,413,760 (GRCm39) |
K389M |
probably damaging |
Het |
| Grin2b |
T |
G |
6: 135,713,329 (GRCm39) |
M851L |
possibly damaging |
Het |
| Hapln1 |
T |
C |
13: 89,753,590 (GRCm39) |
V252A |
probably benign |
Het |
| Hspa13 |
A |
G |
16: 75,554,880 (GRCm39) |
V402A |
possibly damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,159,442 (GRCm39) |
Y454H |
probably damaging |
Het |
| Map3k21 |
G |
A |
8: 126,671,412 (GRCm39) |
S900N |
possibly damaging |
Het |
| Mdm1 |
C |
A |
10: 118,000,346 (GRCm39) |
H615N |
probably damaging |
Het |
| Meak7 |
T |
C |
8: 120,499,334 (GRCm39) |
K53E |
probably benign |
Het |
| Nabp1 |
A |
T |
1: 51,516,687 (GRCm39) |
D60E |
probably damaging |
Het |
| Nmur1 |
T |
C |
1: 86,314,084 (GRCm39) |
E361G |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,245,715 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
G |
12: 55,793,970 (GRCm39) |
D555A |
probably damaging |
Het |
| Rbbp4 |
T |
C |
4: 129,203,946 (GRCm39) |
E406G |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,266,174 (GRCm39) |
C587S |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,610,869 (GRCm39) |
N516K |
probably damaging |
Het |
| Taar7e |
T |
C |
10: 23,914,038 (GRCm39) |
I176T |
probably benign |
Het |
| Tex14 |
G |
T |
11: 87,446,310 (GRCm39) |
R1439S |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,316,039 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Xntrpc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00822:Xntrpc
|
APN |
7 |
101,733,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01537:Xntrpc
|
APN |
7 |
101,722,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01713:Xntrpc
|
APN |
7 |
101,733,059 (GRCm39) |
splice site |
probably benign |
|
|
IGL01797:Xntrpc
|
APN |
7 |
101,739,753 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02066:Xntrpc
|
APN |
7 |
101,727,036 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02336:Xntrpc
|
APN |
7 |
101,733,492 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02383:Xntrpc
|
APN |
7 |
101,742,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02730:Xntrpc
|
APN |
7 |
101,731,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1110:Xntrpc
|
UTSW |
7 |
101,732,181 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2012-04-20 |
Incidental Mutation