Incidental Mutation 'R3032:Umodl1'
ID |
264760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Umodl1
|
Ensembl Gene |
ENSMUSG00000054134 |
Gene Name |
uromodulin-like 1 |
Synonyms |
D17Ertd488e |
MMRRC Submission |
040548-MU
|
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3032 (G1)
|
Quality Score |
177 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
30954679-31010708 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 30989528 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 849
(R849Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066554]
[ENSMUST00000066981]
[ENSMUST00000114555]
|
AlphaFold |
Q5DID3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066554
AA Change: R849Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000067443 Gene: ENSMUSG00000054134 AA Change: R849Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
WAP
|
118 |
159 |
3.15e-4 |
SMART |
EGF_like
|
265 |
306 |
3.72e-2 |
SMART |
FN3
|
305 |
381 |
2.61e0 |
SMART |
EGF
|
503 |
545 |
4.63e-1 |
SMART |
low complexity region
|
651 |
661 |
N/A |
INTRINSIC |
FN3
|
736 |
811 |
6.01e-5 |
SMART |
SEA
|
821 |
936 |
8.88e-2 |
SMART |
EGF
|
933 |
974 |
4.26e0 |
SMART |
ZP
|
1024 |
1267 |
5.44e-25 |
SMART |
transmembrane domain
|
1301 |
1323 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000066981
AA Change: R734Q
|
SMART Domains |
Protein: ENSMUSP00000065470 Gene: ENSMUSG00000054134 AA Change: R734Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:EMI
|
34 |
102 |
8.7e-13 |
PFAM |
WAP
|
118 |
159 |
3.15e-4 |
SMART |
EGF_like
|
265 |
306 |
3.72e-2 |
SMART |
FN3
|
305 |
381 |
2.61e0 |
SMART |
Pfam:SEA
|
388 |
492 |
8.9e-15 |
PFAM |
EGF
|
503 |
545 |
4.63e-1 |
SMART |
low complexity region
|
619 |
632 |
N/A |
INTRINSIC |
SEA
|
706 |
821 |
8.88e-2 |
SMART |
EGF
|
818 |
859 |
4.26e0 |
SMART |
ZP
|
909 |
1152 |
5.44e-25 |
SMART |
transmembrane domain
|
1186 |
1208 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114555
AA Change: R849Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000110202 Gene: ENSMUSG00000054134 AA Change: R849Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:EMI
|
34 |
102 |
9.7e-13 |
PFAM |
WAP
|
118 |
159 |
3.15e-4 |
SMART |
EGF_like
|
265 |
306 |
3.72e-2 |
SMART |
FN3
|
305 |
381 |
2.61e0 |
SMART |
Pfam:SEA
|
388 |
492 |
9.9e-15 |
PFAM |
EGF
|
503 |
545 |
4.63e-1 |
SMART |
low complexity region
|
651 |
661 |
N/A |
INTRINSIC |
FN3
|
736 |
811 |
6.01e-5 |
SMART |
SEA
|
821 |
936 |
8.88e-2 |
SMART |
EGF
|
933 |
974 |
4.26e0 |
SMART |
ZP
|
1024 |
1267 |
5.44e-25 |
SMART |
transmembrane domain
|
1301 |
1323 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
A |
T |
14: 8,253,466 |
L227Q |
probably damaging |
Het |
Ddx41 |
G |
A |
13: 55,534,480 |
R205W |
possibly damaging |
Het |
Dpysl4 |
A |
G |
7: 139,096,236 |
N315D |
probably benign |
Het |
Eps8 |
A |
T |
6: 137,512,177 |
S408T |
probably damaging |
Het |
F13b |
A |
C |
1: 139,517,333 |
T574P |
probably damaging |
Het |
Fgfrl1 |
A |
G |
5: 108,706,060 |
I344M |
probably benign |
Het |
Olfr1444 |
G |
A |
19: 12,861,918 |
V48I |
probably benign |
Het |
Park7 |
T |
C |
4: 150,901,052 |
K122R |
probably benign |
Het |
Psg18 |
G |
A |
7: 18,350,979 |
S64L |
probably benign |
Het |
Rhbdf1 |
T |
C |
11: 32,209,985 |
D172G |
probably damaging |
Het |
Serpinb6b |
G |
A |
13: 32,968,568 |
G20D |
possibly damaging |
Het |
Sorcs1 |
G |
A |
19: 50,225,175 |
R705C |
probably damaging |
Het |
Syt14 |
A |
T |
1: 192,986,751 |
Y65N |
possibly damaging |
Het |
Tll1 |
T |
C |
8: 64,098,492 |
N285S |
probably damaging |
Het |
Upf1 |
C |
T |
8: 70,338,460 |
R544H |
probably damaging |
Het |
|
Other mutations in Umodl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00915:Umodl1
|
APN |
17 |
31008750 |
utr 3 prime |
probably benign |
|
IGL01344:Umodl1
|
APN |
17 |
30996264 |
missense |
probably damaging |
0.99 |
IGL01529:Umodl1
|
APN |
17 |
30996259 |
missense |
possibly damaging |
0.94 |
IGL01609:Umodl1
|
APN |
17 |
30998826 |
missense |
possibly damaging |
0.90 |
IGL01625:Umodl1
|
APN |
17 |
30996255 |
missense |
probably benign |
0.00 |
IGL01877:Umodl1
|
APN |
17 |
30982320 |
missense |
probably benign |
0.00 |
IGL01977:Umodl1
|
APN |
17 |
30973768 |
missense |
probably damaging |
0.99 |
IGL02063:Umodl1
|
APN |
17 |
30987914 |
missense |
probably benign |
0.07 |
IGL02160:Umodl1
|
APN |
17 |
30986117 |
missense |
probably damaging |
0.97 |
IGL02252:Umodl1
|
APN |
17 |
30994815 |
critical splice donor site |
probably null |
|
IGL02427:Umodl1
|
APN |
17 |
30968441 |
splice site |
probably benign |
|
IGL02496:Umodl1
|
APN |
17 |
30998654 |
missense |
probably damaging |
0.99 |
IGL02633:Umodl1
|
APN |
17 |
30989488 |
missense |
probably damaging |
1.00 |
IGL03271:Umodl1
|
APN |
17 |
30986499 |
nonsense |
probably null |
|
IGL03392:Umodl1
|
APN |
17 |
30996355 |
missense |
probably damaging |
0.98 |
Disquieting
|
UTSW |
17 |
30959155 |
missense |
probably damaging |
1.00 |
floored
|
UTSW |
17 |
30988057 |
nonsense |
probably null |
|
R7231_umodl1_507
|
UTSW |
17 |
30986116 |
missense |
probably damaging |
1.00 |
surprising
|
UTSW |
17 |
30986465 |
missense |
possibly damaging |
0.77 |
unsettling
|
UTSW |
17 |
30986554 |
nonsense |
probably null |
|
G1citation:Umodl1
|
UTSW |
17 |
30986554 |
nonsense |
probably null |
|
PIT4468001:Umodl1
|
UTSW |
17 |
30959278 |
missense |
probably damaging |
1.00 |
R0048:Umodl1
|
UTSW |
17 |
30968477 |
missense |
probably damaging |
1.00 |
R0048:Umodl1
|
UTSW |
17 |
30968477 |
missense |
probably damaging |
1.00 |
R0653:Umodl1
|
UTSW |
17 |
30984028 |
missense |
probably benign |
0.00 |
R0831:Umodl1
|
UTSW |
17 |
30996351 |
missense |
probably damaging |
1.00 |
R1078:Umodl1
|
UTSW |
17 |
30959373 |
missense |
probably benign |
0.00 |
R1166:Umodl1
|
UTSW |
17 |
31002798 |
splice site |
probably benign |
|
R1231:Umodl1
|
UTSW |
17 |
30959278 |
missense |
probably damaging |
1.00 |
R1459:Umodl1
|
UTSW |
17 |
30982258 |
splice site |
probably benign |
|
R1459:Umodl1
|
UTSW |
17 |
30986504 |
missense |
probably benign |
0.05 |
R1510:Umodl1
|
UTSW |
17 |
30959229 |
missense |
probably damaging |
1.00 |
R1654:Umodl1
|
UTSW |
17 |
30987968 |
missense |
probably benign |
|
R1757:Umodl1
|
UTSW |
17 |
31008700 |
missense |
probably damaging |
0.99 |
R1781:Umodl1
|
UTSW |
17 |
30968550 |
missense |
probably damaging |
1.00 |
R1873:Umodl1
|
UTSW |
17 |
30982264 |
missense |
probably damaging |
0.99 |
R1911:Umodl1
|
UTSW |
17 |
30992154 |
missense |
possibly damaging |
0.74 |
R1917:Umodl1
|
UTSW |
17 |
30984043 |
missense |
probably damaging |
1.00 |
R1918:Umodl1
|
UTSW |
17 |
30984043 |
missense |
probably damaging |
1.00 |
R2057:Umodl1
|
UTSW |
17 |
31008766 |
critical splice donor site |
probably null |
|
R2058:Umodl1
|
UTSW |
17 |
31008766 |
critical splice donor site |
probably null |
|
R2089:Umodl1
|
UTSW |
17 |
30971919 |
missense |
probably benign |
0.00 |
R2091:Umodl1
|
UTSW |
17 |
30971919 |
missense |
probably benign |
0.00 |
R2091:Umodl1
|
UTSW |
17 |
30971919 |
missense |
probably benign |
0.00 |
R2431:Umodl1
|
UTSW |
17 |
30992088 |
missense |
possibly damaging |
0.79 |
R2903:Umodl1
|
UTSW |
17 |
30992173 |
missense |
probably damaging |
1.00 |
R3956:Umodl1
|
UTSW |
17 |
31002863 |
missense |
probably benign |
0.10 |
R3975:Umodl1
|
UTSW |
17 |
30984789 |
nonsense |
probably null |
|
R4207:Umodl1
|
UTSW |
17 |
30959367 |
missense |
probably damaging |
1.00 |
R4287:Umodl1
|
UTSW |
17 |
30988065 |
missense |
probably benign |
0.11 |
R4452:Umodl1
|
UTSW |
17 |
30994815 |
critical splice donor site |
probably null |
|
R4684:Umodl1
|
UTSW |
17 |
30998114 |
missense |
probably benign |
0.00 |
R4769:Umodl1
|
UTSW |
17 |
30984002 |
missense |
possibly damaging |
0.92 |
R4887:Umodl1
|
UTSW |
17 |
31008665 |
missense |
probably benign |
0.06 |
R4888:Umodl1
|
UTSW |
17 |
30999201 |
missense |
probably damaging |
1.00 |
R4978:Umodl1
|
UTSW |
17 |
30986081 |
missense |
probably benign |
|
R4993:Umodl1
|
UTSW |
17 |
30986485 |
missense |
probably benign |
0.00 |
R5241:Umodl1
|
UTSW |
17 |
30984092 |
missense |
probably benign |
0.18 |
R5254:Umodl1
|
UTSW |
17 |
30980359 |
missense |
possibly damaging |
0.86 |
R5454:Umodl1
|
UTSW |
17 |
30986465 |
missense |
possibly damaging |
0.77 |
R5456:Umodl1
|
UTSW |
17 |
30982289 |
missense |
probably benign |
0.04 |
R5754:Umodl1
|
UTSW |
17 |
30994787 |
missense |
probably damaging |
0.96 |
R6189:Umodl1
|
UTSW |
17 |
30996282 |
missense |
possibly damaging |
0.75 |
R6222:Umodl1
|
UTSW |
17 |
31002892 |
critical splice donor site |
probably null |
|
R6289:Umodl1
|
UTSW |
17 |
30982351 |
missense |
probably benign |
0.16 |
R6432:Umodl1
|
UTSW |
17 |
30986147 |
missense |
probably benign |
0.38 |
R6478:Umodl1
|
UTSW |
17 |
30959155 |
missense |
probably damaging |
1.00 |
R6702:Umodl1
|
UTSW |
17 |
30986299 |
splice site |
probably null |
|
R6822:Umodl1
|
UTSW |
17 |
30986554 |
nonsense |
probably null |
|
R6999:Umodl1
|
UTSW |
17 |
30999123 |
missense |
probably damaging |
1.00 |
R7067:Umodl1
|
UTSW |
17 |
30982272 |
missense |
probably damaging |
1.00 |
R7123:Umodl1
|
UTSW |
17 |
30982344 |
missense |
possibly damaging |
0.90 |
R7219:Umodl1
|
UTSW |
17 |
30982262 |
critical splice acceptor site |
probably null |
|
R7231:Umodl1
|
UTSW |
17 |
30986116 |
missense |
probably damaging |
1.00 |
R7234:Umodl1
|
UTSW |
17 |
30986621 |
missense |
possibly damaging |
0.87 |
R7297:Umodl1
|
UTSW |
17 |
31008665 |
missense |
probably benign |
0.06 |
R7392:Umodl1
|
UTSW |
17 |
30982332 |
missense |
probably damaging |
0.99 |
R7401:Umodl1
|
UTSW |
17 |
30998148 |
missense |
probably damaging |
1.00 |
R7461:Umodl1
|
UTSW |
17 |
30988057 |
nonsense |
probably null |
|
R7594:Umodl1
|
UTSW |
17 |
30954805 |
missense |
probably benign |
0.02 |
R7613:Umodl1
|
UTSW |
17 |
30988057 |
nonsense |
probably null |
|
R7763:Umodl1
|
UTSW |
17 |
30986456 |
missense |
probably benign |
0.24 |
R7797:Umodl1
|
UTSW |
17 |
30959151 |
missense |
probably benign |
0.02 |
R7832:Umodl1
|
UTSW |
17 |
30973692 |
critical splice acceptor site |
probably null |
|
R7954:Umodl1
|
UTSW |
17 |
30986387 |
missense |
probably benign |
0.00 |
R8088:Umodl1
|
UTSW |
17 |
30973796 |
missense |
probably benign |
0.29 |
R8111:Umodl1
|
UTSW |
17 |
30971818 |
missense |
probably damaging |
0.99 |
R8314:Umodl1
|
UTSW |
17 |
30984832 |
missense |
probably damaging |
0.99 |
R8826:Umodl1
|
UTSW |
17 |
30983984 |
missense |
possibly damaging |
0.65 |
R9067:Umodl1
|
UTSW |
17 |
30973703 |
missense |
probably damaging |
1.00 |
R9091:Umodl1
|
UTSW |
17 |
30966704 |
missense |
probably damaging |
1.00 |
R9099:Umodl1
|
UTSW |
17 |
30959173 |
missense |
probably benign |
0.01 |
R9270:Umodl1
|
UTSW |
17 |
30966704 |
missense |
probably damaging |
1.00 |
R9341:Umodl1
|
UTSW |
17 |
30998727 |
missense |
possibly damaging |
0.95 |
R9343:Umodl1
|
UTSW |
17 |
30998727 |
missense |
possibly damaging |
0.95 |
R9400:Umodl1
|
UTSW |
17 |
30996393 |
missense |
probably damaging |
0.99 |
R9569:Umodl1
|
UTSW |
17 |
30998169 |
missense |
probably damaging |
1.00 |
R9615:Umodl1
|
UTSW |
17 |
30998178 |
missense |
possibly damaging |
0.94 |
R9787:Umodl1
|
UTSW |
17 |
30959350 |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCAGGACAGCTTTGATGC -3'
(R):5'- CAAGAAGGGGTATGGCTTCTGC -3'
Sequencing Primer
(F):5'- CAGGACAGCTTTGATGCTCCTG -3'
(R):5'- CAGGATGCTTAAACCTGCTGG -3'
|
Posted On |
2015-02-05 |