Incidental Mutation 'IGL01537:Xntrpc'
ID |
90009 |
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: 0.257)
|
Stock # |
IGL01537
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
101714920-101746071 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101722401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 22
(E22G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084843]
[ENSMUST00000094129]
[ENSMUST00000094130]
[ENSMUST00000106950]
[ENSMUST00000123372]
[ENSMUST00000139104]
[ENSMUST00000146450]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084843
AA Change: E22G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000081903 Gene: ENSMUSG00000070425 AA Change: E22G
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 |
probably damaging
Transcript: ENSMUST00000094129
AA Change: E22G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091679 Gene: ENSMUSG00000070425 AA Change: E22G
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 damaging
Transcript: ENSMUST00000094130
AA Change: E22G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000091680 Gene: ENSMUSG00000099481 AA Change: E22G
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: ENSMUST00000106950
AA Change: E22G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102563 Gene: ENSMUSG00000099481 AA Change: E22G
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: ENSMUST00000123372
AA Change: E22G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121068 Gene: ENSMUSG00000070425 AA Change: E22G
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 |
noncoding transcript
Transcript: ENSMUST00000125197
|
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 |
probably benign
Transcript: ENSMUST00000146450
AA Change: E22G
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000117300 Gene: ENSMUSG00000099481 AA Change: E22G
Domain | Start | End | E-Value | Type |
Pfam:XRCC1_N
|
1 |
152 |
1.1e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153176
|
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 |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn1l |
T |
C |
8: 110,459,312 (GRCm39) |
R317G |
probably benign |
Het |
B130006D01Rik |
T |
A |
11: 95,616,992 (GRCm39) |
|
probably benign |
Het |
Brinp2 |
T |
C |
1: 158,074,379 (GRCm39) |
T581A |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,548,540 (GRCm39) |
I1179N |
probably damaging |
Het |
Cacnb3 |
A |
G |
15: 98,541,301 (GRCm39) |
D434G |
probably damaging |
Het |
Cdh19 |
T |
C |
1: 110,847,341 (GRCm39) |
T423A |
possibly damaging |
Het |
Chkb |
C |
T |
15: 89,311,986 (GRCm39) |
|
probably benign |
Het |
Cit |
T |
C |
5: 116,071,913 (GRCm39) |
Y623H |
probably benign |
Het |
Clstn3 |
G |
A |
6: 124,408,559 (GRCm39) |
R918C |
possibly damaging |
Het |
Dnah2 |
T |
A |
11: 69,406,906 (GRCm39) |
M200L |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,838,506 (GRCm39) |
H3097L |
probably benign |
Het |
Dst |
T |
A |
1: 34,314,401 (GRCm39) |
L4217H |
probably damaging |
Het |
Fam107b |
T |
A |
2: 3,779,565 (GRCm39) |
L80Q |
probably damaging |
Het |
Fgfr1 |
T |
A |
8: 26,045,595 (GRCm39) |
C55S |
probably damaging |
Het |
Igkv4-71 |
C |
A |
6: 69,220,264 (GRCm39) |
G78* |
probably null |
Het |
Igsf10 |
A |
G |
3: 59,237,452 (GRCm39) |
S910P |
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,407,718 (GRCm39) |
D41G |
probably damaging |
Het |
Larp1 |
T |
A |
11: 57,933,648 (GRCm39) |
I358N |
possibly damaging |
Het |
Marchf5 |
C |
T |
19: 37,188,067 (GRCm39) |
|
probably benign |
Het |
Mpdz |
T |
C |
4: 81,287,895 (GRCm39) |
T455A |
probably damaging |
Het |
Myo1b |
A |
G |
1: 51,815,510 (GRCm39) |
V612A |
possibly damaging |
Het |
Nipbl |
T |
C |
15: 8,380,023 (GRCm39) |
D923G |
probably benign |
Het |
Nlrp4b |
T |
C |
7: 10,448,918 (GRCm39) |
F7L |
probably damaging |
Het |
Npas4 |
T |
C |
19: 5,037,355 (GRCm39) |
N313S |
possibly damaging |
Het |
Nynrin |
T |
A |
14: 56,109,502 (GRCm39) |
N1536K |
possibly damaging |
Het |
Or10d5 |
T |
A |
9: 39,861,921 (GRCm39) |
T49S |
probably benign |
Het |
Or13a22 |
A |
G |
7: 140,072,751 (GRCm39) |
N67D |
probably damaging |
Het |
Or4c107 |
T |
C |
2: 88,788,885 (GRCm39) |
V25A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,589,647 (GRCm39) |
V649A |
unknown |
Het |
Pom121 |
A |
G |
5: 135,421,389 (GRCm39) |
|
probably benign |
Het |
Ptcd2 |
A |
T |
13: 99,466,521 (GRCm39) |
I224N |
possibly damaging |
Het |
Rsrp1 |
C |
T |
4: 134,651,290 (GRCm39) |
P18L |
unknown |
Het |
Sash1 |
A |
T |
10: 8,605,422 (GRCm39) |
N989K |
probably damaging |
Het |
Scn2a |
T |
A |
2: 65,546,219 (GRCm39) |
H927Q |
probably benign |
Het |
Selenoi |
G |
T |
5: 30,461,222 (GRCm39) |
V128F |
probably damaging |
Het |
Slc25a42 |
T |
C |
8: 70,642,092 (GRCm39) |
I117V |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,195,558 (GRCm39) |
|
probably benign |
Het |
Sptlc3 |
A |
T |
2: 139,431,615 (GRCm39) |
Y379F |
possibly damaging |
Het |
Tent4a |
A |
T |
13: 69,648,678 (GRCm39) |
S693T |
probably benign |
Het |
Tinag |
C |
T |
9: 76,952,885 (GRCm39) |
R33K |
probably benign |
Het |
Trappc8 |
T |
C |
18: 20,968,061 (GRCm39) |
D1092G |
probably benign |
Het |
Zbtb7b |
A |
G |
3: 89,287,278 (GRCm39) |
M397T |
possibly damaging |
Het |
Zgpat |
A |
G |
2: 181,020,682 (GRCm39) |
D285G |
probably benign |
Het |
|
Other mutations in Xntrpc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00494:Xntrpc
|
APN |
7 |
101,736,754 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00822:Xntrpc
|
APN |
7 |
101,733,575 (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 |
2013-12-03 |