Incidental Mutation 'R3015:Umod'
| ID |
257642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Umod
|
| Ensembl Gene |
ENSMUSG00000030963 |
| Gene Name |
uromodulin |
| Synonyms |
Tamm-Horsfall glycoprotein, uromucoid, Urehd1, urehr4 |
| MMRRC Submission |
040536-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R3015 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119061931-119078485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119071763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 326
(D326G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033263]
[ENSMUST00000207261]
[ENSMUST00000207460]
[ENSMUST00000209095]
|
| AlphaFold |
Q91X17 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033263
AA Change: D326G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033263
Gene: ENSMUSG00000030963
AA Change: D326G
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
31 |
64 |
4.03e-1 |
SMART |
|
EGF_CA
|
65 |
106 |
3.81e-11 |
SMART |
|
EGF_CA
|
107 |
155 |
4.81e-8 |
SMART |
|
Blast:ZP
|
256 |
325 |
6e-30 |
BLAST |
|
ZP
|
335 |
586 |
2.19e-70 |
SMART |
|
low complexity region
|
619 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207261
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207378
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208401
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209095
AA Change: D326G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.5031 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: This gene encodes a glycoprotein that is the most abundant protein in mammalian urine under physiological conditions. It is synthesized in the kidney as a glycosyl-phosphatidylinositol anchored protein and released into urine as a soluble form by proteolytic cleavage. It is thought to regulate water and salt balance in the thick ascending limb of Henle and to protect against urinary tract infection and calcium oxalate crystal formation. In mouse deficiency of this gene is associated with increased susceptibility to bacterial infections and formation of calcium crystals in kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene causes renal dysfunction and increased susceptibility to bladder infection, and may lead to renal calcinosis and stone formation. Homozygotes for an ENU-induced allele exhibit renal dysfunction and alterations in ureahandling, energy, bone, and lipid metabolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,849,913 (GRCm39) |
H380R |
probably benign |
Het |
| Aff3 |
A |
T |
1: 38,249,649 (GRCm39) |
I486N |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,929,611 (GRCm39) |
F76Y |
probably damaging |
Het |
| Cfap44 |
A |
C |
16: 44,230,832 (GRCm39) |
D271A |
probably benign |
Het |
| Dbndd2 |
T |
A |
2: 164,330,270 (GRCm39) |
V34D |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 27,733,732 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
T |
C |
7: 27,774,838 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,417,402 (GRCm39) |
S2036P |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,499,024 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Ifrd2 |
G |
A |
9: 107,467,221 (GRCm39) |
G60S |
probably null |
Het |
| Ints9 |
T |
A |
14: 65,187,727 (GRCm39) |
W3R |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 66,993,711 (GRCm39) |
E64G |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,465,512 (GRCm39) |
H1321Q |
probably damaging |
Het |
| Matn3 |
A |
C |
12: 9,002,217 (GRCm39) |
Q143P |
probably damaging |
Het |
| Myo18a |
A |
T |
11: 77,749,846 (GRCm39) |
|
probably benign |
Het |
| Nop9 |
T |
C |
14: 55,988,631 (GRCm39) |
S358P |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,384,037 (GRCm39) |
S801P |
probably damaging |
Het |
| Pax2 |
T |
C |
19: 44,804,463 (GRCm39) |
F268L |
probably damaging |
Het |
| Pik3r1 |
A |
G |
13: 101,823,771 (GRCm39) |
I538T |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,599,107 (GRCm39) |
S214P |
probably benign |
Het |
| Ppme1 |
T |
C |
7: 99,981,084 (GRCm39) |
H352R |
probably damaging |
Het |
| Ppp1r26 |
A |
C |
2: 28,342,314 (GRCm39) |
D648A |
probably damaging |
Het |
| Prom1 |
C |
A |
5: 44,191,733 (GRCm39) |
V337F |
probably damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,028,717 (GRCm39) |
I378T |
probably damaging |
Het |
| Rnf115 |
T |
C |
3: 96,661,675 (GRCm39) |
S43P |
probably damaging |
Het |
| Rnf216 |
A |
G |
5: 143,061,480 (GRCm39) |
|
probably null |
Het |
| Scn7a |
G |
T |
2: 66,530,240 (GRCm39) |
Q702K |
probably benign |
Het |
| Shisal2b |
T |
A |
13: 104,994,899 (GRCm39) |
I83F |
possibly damaging |
Het |
| Slc2a1 |
T |
A |
4: 118,989,340 (GRCm39) |
N13K |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,715,829 (GRCm39) |
I864V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,650 (GRCm39) |
M196K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,980,890 (GRCm39) |
D492G |
unknown |
Het |
| Vash1 |
A |
G |
12: 86,732,194 (GRCm39) |
T126A |
probably benign |
Het |
| Vsig10l |
T |
A |
7: 43,116,881 (GRCm39) |
I574K |
possibly damaging |
Het |
|
| Other mutations in Umod |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01151:Umod
|
APN |
7 |
119,076,442 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02527:Umod
|
APN |
7 |
119,068,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0265:Umod
|
UTSW |
7 |
119,065,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1073:Umod
|
UTSW |
7 |
119,063,964 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1117:Umod
|
UTSW |
7 |
119,076,529 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1515:Umod
|
UTSW |
7 |
119,064,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1774:Umod
|
UTSW |
7 |
119,076,574 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1803:Umod
|
UTSW |
7 |
119,063,947 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1864:Umod
|
UTSW |
7 |
119,062,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1942:Umod
|
UTSW |
7 |
119,076,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Umod
|
UTSW |
7 |
119,075,938 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2354:Umod
|
UTSW |
7 |
119,065,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3030:Umod
|
UTSW |
7 |
119,076,062 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4016:Umod
|
UTSW |
7 |
119,075,913 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4406:Umod
|
UTSW |
7 |
119,065,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Umod
|
UTSW |
7 |
119,065,279 (GRCm39) |
splice site |
probably null |
|
|
R5062:Umod
|
UTSW |
7 |
119,071,644 (GRCm39) |
nonsense |
probably null |
|
|
R5358:Umod
|
UTSW |
7 |
119,071,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Umod
|
UTSW |
7 |
119,070,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Umod
|
UTSW |
7 |
119,076,046 (GRCm39) |
missense |
probably benign |
|
|
R6239:Umod
|
UTSW |
7 |
119,076,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7111:Umod
|
UTSW |
7 |
119,076,369 (GRCm39) |
nonsense |
probably null |
|
|
R7168:Umod
|
UTSW |
7 |
119,077,549 (GRCm39) |
splice site |
probably benign |
|
|
R7265:Umod
|
UTSW |
7 |
119,065,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7273:Umod
|
UTSW |
7 |
119,076,250 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8749:Umod
|
UTSW |
7 |
119,070,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8786:Umod
|
UTSW |
7 |
119,076,581 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8939:Umod
|
UTSW |
7 |
119,068,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Umod
|
UTSW |
7 |
119,065,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Umod
|
UTSW |
7 |
119,076,517 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACGGGCAAAGACTTACCC -3'
(R):5'- GACAGTGTCCTTTGCTTTACAG -3'
Sequencing Primer
(F):5'- CATTCCTGGCAGGGGTCACTATG -3'
(R):5'- GTGTCCTTTGCTTTACAGAAACTTTG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation