Incidental Mutation 'R6887:Hrc'
| ID |
536994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrc
|
| Ensembl Gene |
ENSMUSG00000038239 |
| Gene Name |
histidine rich calcium binding protein |
| Synonyms |
|
| MMRRC Submission |
044981-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6887 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45335290-45338974 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45335664 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 80
(F80L)
|
| 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: F80L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: F80L
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (39/39) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 79,092,483 (GRCm38) |
V543I |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,298,590 (GRCm38) |
I1104V |
possibly damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,542,733 (GRCm38) |
I681F |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,528,701 (GRCm38) |
M2004L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,659,768 (GRCm38) |
S785P |
possibly damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,723,698 (GRCm38) |
I242N |
probably damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,519,144 (GRCm38) |
L966P |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,738,451 (GRCm38) |
T547A |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,505,811 (GRCm38) |
F753S |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,078,653 (GRCm38) |
S252P |
possibly damaging |
Het |
| Cep63 |
A |
G |
9: 102,625,927 (GRCm38) |
|
probably benign |
Het |
| Chrna5 |
G |
T |
9: 55,005,133 (GRCm38) |
V302L |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,261,071 (GRCm38) |
T374A |
probably damaging |
Het |
| Dmtf1 |
T |
G |
5: 9,137,149 (GRCm38) |
D140A |
probably damaging |
Het |
| Exosc8 |
C |
T |
3: 54,733,699 (GRCm38) |
V39M |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,463,315 (GRCm38) |
S677A |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,563,389 (GRCm38) |
Y93H |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,189,820 (GRCm38) |
T139A |
possibly damaging |
Het |
| Kdr |
T |
G |
5: 75,968,451 (GRCm38) |
R178S |
probably benign |
Het |
| Lrrc61 |
A |
C |
6: 48,568,432 (GRCm38) |
N63T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,325,237 (GRCm38) |
A1219V |
possibly damaging |
Het |
| Neto1 |
T |
C |
18: 86,498,635 (GRCm38) |
V359A |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,281,836 (GRCm38) |
I364T |
probably benign |
Het |
| Nisch |
C |
T |
14: 31,185,344 (GRCm38) |
|
probably benign |
Het |
| Olfr1373 |
C |
A |
11: 52,145,352 (GRCm38) |
M59I |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,155,675 (GRCm38) |
D1333G |
probably damaging |
Het |
| Raly |
G |
T |
2: 154,861,910 (GRCm38) |
V134F |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,852,231 (GRCm38) |
Y406C |
probably damaging |
Het |
| Robo4 |
G |
C |
9: 37,402,067 (GRCm38) |
E6Q |
possibly damaging |
Het |
| Scnn1g |
C |
A |
7: 121,760,444 (GRCm38) |
S383R |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,111,151 (GRCm38) |
W13R |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,544,806 (GRCm38) |
|
probably null |
Het |
| Tbc1d32 |
G |
A |
10: 56,151,811 (GRCm38) |
Q732* |
probably null |
Het |
| Tek |
T |
A |
4: 94,804,944 (GRCm38) |
C247S |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,176,838 (GRCm38) |
D91E |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,333,157 (GRCm38) |
L326P |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,690,827 (GRCm38) |
C770S |
probably damaging |
Het |
| Wdr31 |
C |
T |
4: 62,457,565 (GRCm38) |
G58R |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,266,449 (GRCm38) |
I54T |
probably damaging |
Het |
|
| Other mutations in Hrc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03379:Hrc
|
APN |
7 |
45,337,255 (GRCm38) |
missense |
probably benign |
0.27 |
|
BB004:Hrc
|
UTSW |
7 |
45,336,053 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
BB014:Hrc
|
UTSW |
7 |
45,336,053 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0017:Hrc
|
UTSW |
7 |
45,336,370 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R0047:Hrc
|
UTSW |
7 |
45,336,689 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0047:Hrc
|
UTSW |
7 |
45,336,689 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0310:Hrc
|
UTSW |
7 |
45,336,497 (GRCm38) |
missense |
probably benign |
|
|
R0436:Hrc
|
UTSW |
7 |
45,336,133 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0534:Hrc
|
UTSW |
7 |
45,337,235 (GRCm38) |
unclassified |
probably benign |
|
|
R1230:Hrc
|
UTSW |
7 |
45,336,463 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1808:Hrc
|
UTSW |
7 |
45,336,778 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1975:Hrc
|
UTSW |
7 |
45,336,214 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1977:Hrc
|
UTSW |
7 |
45,336,214 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2258:Hrc
|
UTSW |
7 |
45,336,681 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R2260:Hrc
|
UTSW |
7 |
45,336,681 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R3551:Hrc
|
UTSW |
7 |
45,336,333 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R3552:Hrc
|
UTSW |
7 |
45,336,333 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4169:Hrc
|
UTSW |
7 |
45,336,757 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5085:Hrc
|
UTSW |
7 |
45,337,021 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5204:Hrc
|
UTSW |
7 |
45,335,704 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5215:Hrc
|
UTSW |
7 |
45,336,091 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5245:Hrc
|
UTSW |
7 |
45,335,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5390:Hrc
|
UTSW |
7 |
45,335,485 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5432:Hrc
|
UTSW |
7 |
45,336,861 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R5756:Hrc
|
UTSW |
7 |
45,336,706 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R5761:Hrc
|
UTSW |
7 |
45,336,601 (GRCm38) |
splice site |
probably null |
|
|
R5905:Hrc
|
UTSW |
7 |
45,336,234 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6144:Hrc
|
UTSW |
7 |
45,336,733 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6684:Hrc
|
UTSW |
7 |
45,336,532 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6699:Hrc
|
UTSW |
7 |
45,335,695 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6809:Hrc
|
UTSW |
7 |
45,336,379 (GRCm38) |
missense |
probably benign |
|
|
R7178:Hrc
|
UTSW |
7 |
45,336,261 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7208:Hrc
|
UTSW |
7 |
45,336,565 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7258:Hrc
|
UTSW |
7 |
45,336,296 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7310:Hrc
|
UTSW |
7 |
45,335,803 (GRCm38) |
nonsense |
probably null |
|
|
R7456:Hrc
|
UTSW |
7 |
45,336,896 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7525:Hrc
|
UTSW |
7 |
45,336,379 (GRCm38) |
missense |
probably benign |
|
|
R7673:Hrc
|
UTSW |
7 |
45,337,234 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7734:Hrc
|
UTSW |
7 |
45,336,676 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7927:Hrc
|
UTSW |
7 |
45,336,053 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7952:Hrc
|
UTSW |
7 |
45,336,268 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8080:Hrc
|
UTSW |
7 |
45,336,838 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8823:Hrc
|
UTSW |
7 |
45,336,298 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9173:Hrc
|
UTSW |
7 |
45,337,375 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9358:Hrc
|
UTSW |
7 |
45,336,560 (GRCm38) |
missense |
probably benign |
0.33 |
|
Z1177:Hrc
|
UTSW |
7 |
45,336,970 (GRCm38) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACACTTGTCTCCTTTGGG -3'
(R):5'- AGACAATGCCATCCTCATCTTCG -3'
Sequencing Primer
(F):5'- GTCTCCTTTGGGCCACAGTG -3'
(R):5'- ATCCTCATCTTCGTGGCTGTGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation