Incidental Mutation 'R6809:Hrc'
ID |
533704 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hrc
|
Ensembl Gene |
ENSMUSG00000038239 |
Gene Name |
histidine rich calcium binding protein |
Synonyms |
|
MMRRC Submission |
044922-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6809 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44984714-44988398 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44985803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 318
(E318G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082459
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003961]
[ENSMUST00000042194]
[ENSMUST00000085351]
[ENSMUST00000210248]
[ENSMUST00000210541]
[ENSMUST00000211067]
[ENSMUST00000211327]
[ENSMUST00000211431]
[ENSMUST00000211743]
|
AlphaFold |
G5E8J6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003961
|
SMART Domains |
Protein: ENSMUSP00000003961 Gene: ENSMUSG00000003863
Domain | Start | End | E-Value | Type |
coiled coil region
|
27 |
129 |
N/A |
INTRINSIC |
coiled coil region
|
167 |
426 |
N/A |
INTRINSIC |
coiled coil region
|
448 |
500 |
N/A |
INTRINSIC |
low complexity region
|
534 |
550 |
N/A |
INTRINSIC |
coiled coil region
|
597 |
642 |
N/A |
INTRINSIC |
low complexity region
|
651 |
672 |
N/A |
INTRINSIC |
low complexity region
|
707 |
719 |
N/A |
INTRINSIC |
SAM
|
835 |
904 |
1.46e-10 |
SMART |
SAM
|
950 |
1017 |
8.22e-5 |
SMART |
SAM
|
1038 |
1110 |
3.58e-5 |
SMART |
low complexity region
|
1156 |
1169 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000042194
|
SMART Domains |
Protein: ENSMUSP00000040367 Gene: ENSMUSG00000038260
Domain | Start | End | E-Value | Type |
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
SCOP:d1awcb_
|
378 |
465 |
2e-3 |
SMART |
low complexity region
|
600 |
612 |
N/A |
INTRINSIC |
low complexity region
|
637 |
645 |
N/A |
INTRINSIC |
transmembrane domain
|
688 |
710 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
781 |
1051 |
1.8e-13 |
PFAM |
low complexity region
|
1089 |
1096 |
N/A |
INTRINSIC |
low complexity region
|
1191 |
1208 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085351
AA Change: E318G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000082459 Gene: ENSMUSG00000038239 AA Change: E318G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
32 |
45 |
N/A |
INTRINSIC |
internal_repeat_1
|
51 |
146 |
8.76e-11 |
PROSPERO |
low complexity region
|
154 |
189 |
N/A |
INTRINSIC |
Pfam:Hist_rich_Ca-bd
|
213 |
225 |
1e-4 |
PFAM |
low complexity region
|
240 |
254 |
N/A |
INTRINSIC |
low complexity region
|
260 |
274 |
N/A |
INTRINSIC |
low complexity region
|
287 |
304 |
N/A |
INTRINSIC |
Pfam:Hist_rich_Ca-bd
|
308 |
324 |
2.2e-8 |
PFAM |
low complexity region
|
340 |
353 |
N/A |
INTRINSIC |
low complexity region
|
362 |
382 |
N/A |
INTRINSIC |
internal_repeat_1
|
399 |
490 |
8.76e-11 |
PROSPERO |
coiled coil region
|
536 |
565 |
N/A |
INTRINSIC |
low complexity region
|
571 |
582 |
N/A |
INTRINSIC |
coiled coil region
|
594 |
621 |
N/A |
INTRINSIC |
low complexity region
|
632 |
648 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210248
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210541
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211067
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211327
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211431
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211743
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (51/53) |
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in impaired weight gain and weight loss around 1 year of age and increased susceptibility to induced cardiac hypertrophy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
T |
A |
1: 192,857,089 (GRCm39) |
V147E |
possibly damaging |
Het |
Abtb3 |
A |
G |
10: 85,467,240 (GRCm39) |
T732A |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,621,072 (GRCm39) |
M3893K |
probably benign |
Het |
Aox3 |
T |
C |
1: 58,157,840 (GRCm39) |
S66P |
probably damaging |
Het |
Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
Bloc1s5 |
A |
G |
13: 38,787,961 (GRCm39) |
V141A |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,928,431 (GRCm39) |
N61S |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 7,999,468 (GRCm39) |
Y1083C |
probably damaging |
Het |
Crb1 |
A |
G |
1: 139,170,864 (GRCm39) |
V842A |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,899,103 (GRCm39) |
S858G |
probably benign |
Het |
Dlgap2 |
G |
T |
8: 14,229,619 (GRCm39) |
|
probably benign |
Het |
Dpysl4 |
A |
G |
7: 138,673,576 (GRCm39) |
D199G |
probably benign |
Het |
Eml6 |
C |
T |
11: 29,753,161 (GRCm39) |
V917I |
probably benign |
Het |
Fut9 |
T |
A |
4: 25,620,647 (GRCm39) |
T56S |
probably benign |
Het |
Gtdc1 |
G |
C |
2: 44,465,563 (GRCm39) |
S214* |
probably null |
Het |
Gtdc1 |
A |
G |
2: 44,715,396 (GRCm39) |
F49S |
probably damaging |
Het |
Hoxd9 |
A |
G |
2: 74,529,590 (GRCm39) |
Y282C |
probably damaging |
Het |
Ikzf2 |
T |
C |
1: 69,609,661 (GRCm39) |
T195A |
probably damaging |
Het |
Krt36 |
A |
T |
11: 99,996,335 (GRCm39) |
S30T |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,390,925 (GRCm39) |
F2991L |
probably benign |
Het |
Lrrc34 |
T |
A |
3: 30,688,749 (GRCm39) |
Q184L |
possibly damaging |
Het |
Mapk1 |
A |
T |
16: 16,853,326 (GRCm39) |
M49L |
probably benign |
Het |
Mroh2a |
G |
T |
1: 88,162,938 (GRCm39) |
Q360H |
probably benign |
Het |
Mrpl48 |
A |
G |
7: 100,195,574 (GRCm39) |
|
probably benign |
Het |
Ncln |
A |
G |
10: 81,323,512 (GRCm39) |
|
probably null |
Het |
Nol4 |
T |
A |
18: 23,053,882 (GRCm39) |
Q96L |
probably damaging |
Het |
Or2y1e |
G |
T |
11: 49,218,687 (GRCm39) |
V150L |
probably benign |
Het |
Or5g25 |
G |
A |
2: 85,478,317 (GRCm39) |
A116V |
probably damaging |
Het |
Padi2 |
A |
G |
4: 140,674,077 (GRCm39) |
|
probably null |
Het |
Pak5 |
T |
G |
2: 135,939,501 (GRCm39) |
I545L |
possibly damaging |
Het |
Paqr5 |
T |
A |
9: 61,876,064 (GRCm39) |
R157W |
probably null |
Het |
Pard3b |
G |
A |
1: 62,200,340 (GRCm39) |
R293H |
probably damaging |
Het |
Phf11d |
C |
A |
14: 59,593,844 (GRCm39) |
C110F |
probably damaging |
Het |
Pkn2 |
G |
A |
3: 142,504,765 (GRCm39) |
P804S |
probably damaging |
Het |
Pnpla6 |
G |
A |
8: 3,584,611 (GRCm39) |
C743Y |
possibly damaging |
Het |
Pramel14 |
A |
G |
4: 143,719,651 (GRCm39) |
V238A |
probably benign |
Het |
Pramel58 |
C |
A |
5: 94,831,277 (GRCm39) |
Q95K |
probably benign |
Het |
Psip1 |
A |
G |
4: 83,386,879 (GRCm39) |
M164T |
probably benign |
Het |
Rgs22 |
C |
G |
15: 36,048,910 (GRCm39) |
S914T |
probably damaging |
Het |
Rufy4 |
G |
A |
1: 74,172,206 (GRCm39) |
V310I |
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,741,816 (GRCm39) |
L2122F |
probably damaging |
Het |
Sgcb |
T |
G |
5: 73,798,036 (GRCm39) |
N142T |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,738,126 (GRCm39) |
E394G |
probably benign |
Het |
Slc29a2 |
T |
C |
19: 5,079,271 (GRCm39) |
V298A |
probably damaging |
Het |
Slf2 |
C |
A |
19: 44,931,907 (GRCm39) |
T654N |
probably damaging |
Het |
Spata4 |
A |
C |
8: 55,055,368 (GRCm39) |
K123Q |
possibly damaging |
Het |
Taar7b |
T |
C |
10: 23,876,756 (GRCm39) |
V307A |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Ttn |
T |
C |
2: 76,693,983 (GRCm39) |
E295G |
possibly damaging |
Het |
Ubqln4 |
A |
T |
3: 88,462,679 (GRCm39) |
Q48L |
possibly damaging |
Het |
Ugt1a10 |
T |
A |
1: 87,983,647 (GRCm39) |
D148E |
probably damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,261,795 (GRCm39) |
N181Y |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,071,813 (GRCm39) |
V1026I |
possibly damaging |
Het |
|
Other mutations in Hrc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03379:Hrc
|
APN |
7 |
44,986,679 (GRCm39) |
missense |
probably benign |
0.27 |
BB004:Hrc
|
UTSW |
7 |
44,985,477 (GRCm39) |
missense |
possibly damaging |
0.53 |
BB014:Hrc
|
UTSW |
7 |
44,985,477 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0017:Hrc
|
UTSW |
7 |
44,985,794 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0047:Hrc
|
UTSW |
7 |
44,986,113 (GRCm39) |
missense |
probably benign |
0.00 |
R0047:Hrc
|
UTSW |
7 |
44,986,113 (GRCm39) |
missense |
probably benign |
0.00 |
R0310:Hrc
|
UTSW |
7 |
44,985,921 (GRCm39) |
missense |
probably benign |
|
R0436:Hrc
|
UTSW |
7 |
44,985,557 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0534:Hrc
|
UTSW |
7 |
44,986,659 (GRCm39) |
unclassified |
probably benign |
|
R1230:Hrc
|
UTSW |
7 |
44,985,887 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1808:Hrc
|
UTSW |
7 |
44,986,202 (GRCm39) |
missense |
probably damaging |
0.99 |
R1975:Hrc
|
UTSW |
7 |
44,985,638 (GRCm39) |
missense |
probably damaging |
0.98 |
R1977:Hrc
|
UTSW |
7 |
44,985,638 (GRCm39) |
missense |
probably damaging |
0.98 |
R2258:Hrc
|
UTSW |
7 |
44,986,105 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2260:Hrc
|
UTSW |
7 |
44,986,105 (GRCm39) |
missense |
possibly damaging |
0.68 |
R3551:Hrc
|
UTSW |
7 |
44,985,757 (GRCm39) |
missense |
possibly damaging |
0.72 |
R3552:Hrc
|
UTSW |
7 |
44,985,757 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4169:Hrc
|
UTSW |
7 |
44,986,181 (GRCm39) |
missense |
probably benign |
0.00 |
R5085:Hrc
|
UTSW |
7 |
44,986,445 (GRCm39) |
missense |
probably damaging |
0.99 |
R5204:Hrc
|
UTSW |
7 |
44,985,128 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5215:Hrc
|
UTSW |
7 |
44,985,515 (GRCm39) |
missense |
probably damaging |
0.99 |
R5245:Hrc
|
UTSW |
7 |
44,984,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R5390:Hrc
|
UTSW |
7 |
44,984,909 (GRCm39) |
missense |
probably damaging |
0.96 |
R5432:Hrc
|
UTSW |
7 |
44,986,285 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5756:Hrc
|
UTSW |
7 |
44,986,130 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5761:Hrc
|
UTSW |
7 |
44,986,025 (GRCm39) |
splice site |
probably null |
|
R5905:Hrc
|
UTSW |
7 |
44,985,658 (GRCm39) |
missense |
probably damaging |
0.99 |
R6144:Hrc
|
UTSW |
7 |
44,986,157 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6684:Hrc
|
UTSW |
7 |
44,985,956 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6699:Hrc
|
UTSW |
7 |
44,985,119 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6887:Hrc
|
UTSW |
7 |
44,985,088 (GRCm39) |
missense |
probably benign |
0.18 |
R7178:Hrc
|
UTSW |
7 |
44,985,685 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7208:Hrc
|
UTSW |
7 |
44,985,989 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7258:Hrc
|
UTSW |
7 |
44,985,720 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7310:Hrc
|
UTSW |
7 |
44,985,227 (GRCm39) |
nonsense |
probably null |
|
R7456:Hrc
|
UTSW |
7 |
44,986,320 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7525:Hrc
|
UTSW |
7 |
44,985,803 (GRCm39) |
missense |
probably benign |
|
R7673:Hrc
|
UTSW |
7 |
44,986,658 (GRCm39) |
missense |
probably benign |
0.00 |
R7734:Hrc
|
UTSW |
7 |
44,986,100 (GRCm39) |
missense |
probably benign |
0.06 |
R7927:Hrc
|
UTSW |
7 |
44,985,477 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7952:Hrc
|
UTSW |
7 |
44,985,692 (GRCm39) |
missense |
probably damaging |
0.98 |
R8080:Hrc
|
UTSW |
7 |
44,986,262 (GRCm39) |
missense |
probably damaging |
0.96 |
R8823:Hrc
|
UTSW |
7 |
44,985,722 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9173:Hrc
|
UTSW |
7 |
44,986,799 (GRCm39) |
critical splice donor site |
probably null |
|
R9358:Hrc
|
UTSW |
7 |
44,985,984 (GRCm39) |
missense |
probably benign |
0.33 |
Z1177:Hrc
|
UTSW |
7 |
44,986,394 (GRCm39) |
missense |
probably benign |
0.25 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGAGCATGGACACCAAGC -3'
(R):5'- CTGGGGACATGATGGTAGTC -3'
Sequencing Primer
(F):5'- AGCTCACAGATATCAGGATCATG -3'
(R):5'- ACATGATGGTAGTCTTCTTCTGAGTC -3'
|
Posted On |
2018-09-12 |