Incidental Mutation 'R6684:Hrc'
| ID |
527613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrc
|
| Ensembl Gene |
ENSMUSG00000038239 |
| Gene Name |
histidine rich calcium binding protein |
| Synonyms |
|
| MMRRC Submission |
044803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6684 (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 44985956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 369
(H369R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003961]
[ENSMUST00000042194]
[ENSMUST00000085351]
[ENSMUST00000210248]
[ENSMUST00000210541]
[ENSMUST00000211327]
[ENSMUST00000211431]
[ENSMUST00000211067]
[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 |
possibly damaging
Transcript: ENSMUST00000085351
AA Change: H369R
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: H369R
| 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 |
noncoding transcript
Transcript: ENSMUST00000210479
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210586
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211067
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211411
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210844
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211098
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
94% (33/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
G |
A |
5: 24,774,137 (GRCm39) |
R322W |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,893,324 (GRCm39) |
G63V |
probably damaging |
Het |
| Carmil1 |
G |
A |
13: 24,206,525 (GRCm39) |
T5M |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,853,329 (GRCm39) |
K70* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,908,708 (GRCm39) |
I1107N |
probably damaging |
Het |
| Ehd4 |
A |
G |
2: 119,984,815 (GRCm39) |
F48L |
probably damaging |
Het |
| Fam221a |
G |
T |
6: 49,349,542 (GRCm39) |
E36* |
probably null |
Het |
| Fam81b |
G |
A |
13: 76,350,157 (GRCm39) |
Q423* |
probably null |
Het |
| Galnt7 |
C |
T |
8: 57,991,143 (GRCm39) |
V456I |
probably benign |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Impg2 |
T |
G |
16: 56,080,292 (GRCm39) |
S590A |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,170 (GRCm39) |
H75L |
probably benign |
Het |
| Lims1 |
T |
A |
10: 58,234,835 (GRCm39) |
|
probably null |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,141 (GRCm39) |
T41A |
probably damaging |
Het |
| Orai3 |
A |
G |
7: 127,372,892 (GRCm39) |
N131S |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,849,103 (GRCm39) |
L370P |
probably damaging |
Het |
| Phtf2 |
A |
G |
5: 21,017,937 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,323,071 (GRCm39) |
Y709H |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,262,462 (GRCm39) |
S719P |
probably benign |
Het |
| Polr3g |
A |
T |
13: 81,847,650 (GRCm39) |
|
probably null |
Het |
| Ppp4r1 |
G |
A |
17: 66,131,337 (GRCm39) |
A360T |
probably benign |
Het |
| Pramel6 |
T |
C |
2: 87,339,748 (GRCm39) |
W171R |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,583,689 (GRCm39) |
|
probably benign |
Het |
| Rasl10a |
G |
A |
11: 5,008,396 (GRCm39) |
E31K |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,583,433 (GRCm39) |
R2813G |
probably damaging |
Het |
| Tmem71 |
A |
G |
15: 66,413,539 (GRCm39) |
S178P |
possibly damaging |
Het |
| Trim58 |
A |
G |
11: 58,542,446 (GRCm39) |
T469A |
probably benign |
Het |
| Vash1 |
A |
G |
12: 86,735,683 (GRCm39) |
T190A |
probably damaging |
Het |
| Ythdc2 |
T |
C |
18: 45,006,136 (GRCm39) |
S1210P |
possibly damaging |
Het |
| Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
| Zfp595 |
T |
C |
13: 67,468,341 (GRCm39) |
Y72C |
probably 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 |
|
R6699:Hrc
|
UTSW |
7 |
44,985,119 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6809:Hrc
|
UTSW |
7 |
44,985,803 (GRCm39) |
missense |
probably benign |
|
|
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'- GACGGTGACTCTGGTGAATAC -3'
(R):5'- GCAACATGGTGGCTGTACTTG -3'
Sequencing Primer
(F):5'- TGACTCTGGTGAATACAGACAC -3'
(R):5'- GCTGTACTTGACTGCTACCTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation