Incidental Mutation 'R2260:Hrc'
ID |
243728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hrc
|
Ensembl Gene |
ENSMUSG00000038239 |
Gene Name |
histidine rich calcium binding protein |
Synonyms |
|
MMRRC Submission |
040260-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2260 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44984714-44988398 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 44986105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 419
(R419S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082459
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003961]
[ENSMUST00000042194]
[ENSMUST00000085351]
[ENSMUST00000210248]
[ENSMUST00000210541]
[ENSMUST00000211067]
[ENSMUST00000211327]
[ENSMUST00000211743]
[ENSMUST00000211431]
|
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: R419S
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000082459 Gene: ENSMUSG00000038239 AA Change: R419S
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: ENSMUST00000211067
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211327
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211743
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211431
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210844
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211411
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,354,978 (GRCm39) |
N1252I |
probably damaging |
Het |
Acot5 |
A |
T |
12: 84,122,643 (GRCm39) |
H409L |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,716,493 (GRCm39) |
V840E |
probably damaging |
Het |
Adnp2 |
A |
T |
18: 80,171,664 (GRCm39) |
M915K |
probably benign |
Het |
Cd101 |
G |
C |
3: 100,924,261 (GRCm39) |
L393V |
possibly damaging |
Het |
Cd177 |
A |
G |
7: 24,455,661 (GRCm39) |
V287A |
possibly damaging |
Het |
Cdc37l1 |
A |
T |
19: 28,984,448 (GRCm39) |
K194N |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,101,749 (GRCm39) |
T262A |
possibly damaging |
Het |
Chit1 |
A |
G |
1: 134,078,865 (GRCm39) |
S392G |
probably benign |
Het |
Col11a2 |
A |
G |
17: 34,258,651 (GRCm39) |
H8R |
probably benign |
Het |
Dusp12 |
C |
T |
1: 170,708,580 (GRCm39) |
R120H |
probably damaging |
Het |
Eln |
C |
A |
5: 134,758,508 (GRCm39) |
A126S |
unknown |
Het |
Entpd2 |
C |
T |
2: 25,288,099 (GRCm39) |
P108S |
probably damaging |
Het |
Fkbp6 |
C |
T |
5: 135,366,468 (GRCm39) |
|
probably null |
Het |
Ftcd |
T |
A |
10: 76,423,893 (GRCm39) |
|
probably null |
Het |
Gdf10 |
T |
C |
14: 33,654,234 (GRCm39) |
L247P |
probably damaging |
Het |
Gigyf1 |
C |
A |
5: 137,518,594 (GRCm39) |
A215E |
possibly damaging |
Het |
Gja4 |
C |
A |
4: 127,206,623 (GRCm39) |
D47Y |
probably damaging |
Het |
Gsn |
G |
A |
2: 35,180,349 (GRCm39) |
G130E |
probably damaging |
Het |
Itfg1 |
C |
T |
8: 86,449,306 (GRCm39) |
C576Y |
probably damaging |
Het |
Lama1 |
G |
T |
17: 68,044,502 (GRCm39) |
A134S |
probably damaging |
Het |
Larp4 |
T |
G |
15: 99,895,277 (GRCm39) |
F283L |
possibly damaging |
Het |
Marveld2 |
A |
G |
13: 100,748,978 (GRCm39) |
S34P |
probably benign |
Het |
Mettl18 |
T |
A |
1: 163,824,394 (GRCm39) |
D238E |
probably benign |
Het |
Mfn1 |
G |
T |
3: 32,617,575 (GRCm39) |
E74* |
probably null |
Het |
Mfn2 |
C |
A |
4: 147,979,063 (GRCm39) |
E90* |
probably null |
Het |
Mill2 |
T |
A |
7: 18,590,413 (GRCm39) |
D164E |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,967,368 (GRCm39) |
D568G |
probably benign |
Het |
Nt5c1b |
A |
T |
12: 10,424,965 (GRCm39) |
R170S |
probably damaging |
Het |
Or10ak11 |
T |
C |
4: 118,687,359 (GRCm39) |
I93V |
probably damaging |
Het |
Or4c100 |
G |
A |
2: 88,356,730 (GRCm39) |
V268I |
possibly damaging |
Het |
Or5bw2 |
A |
T |
7: 6,573,022 (GRCm39) |
I11F |
probably damaging |
Het |
Or8d1b |
T |
C |
9: 38,887,296 (GRCm39) |
V108A |
probably benign |
Het |
Pald1 |
G |
A |
10: 61,188,750 (GRCm39) |
R87W |
probably damaging |
Het |
Paox |
T |
A |
7: 139,713,967 (GRCm39) |
Y242* |
probably null |
Het |
Pde2a |
A |
T |
7: 101,133,774 (GRCm39) |
D85V |
probably damaging |
Het |
Pitrm1 |
C |
T |
13: 6,610,161 (GRCm39) |
T411I |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,350,268 (GRCm39) |
Q371R |
probably benign |
Het |
Plaat5 |
C |
T |
19: 7,590,111 (GRCm39) |
R46C |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,082,145 (GRCm39) |
D38G |
possibly damaging |
Het |
Rag2 |
G |
A |
2: 101,460,583 (GRCm39) |
E298K |
probably benign |
Het |
Rbm12b2 |
G |
A |
4: 12,095,061 (GRCm39) |
R640H |
probably benign |
Het |
Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,341,962 (GRCm39) |
E604* |
probably null |
Het |
Rin2 |
A |
G |
2: 145,720,824 (GRCm39) |
D719G |
probably damaging |
Het |
Sash1 |
G |
A |
10: 8,662,142 (GRCm39) |
Q155* |
probably null |
Het |
Tacr1 |
A |
T |
6: 82,380,756 (GRCm39) |
I56F |
probably damaging |
Het |
Tbc1d4 |
G |
A |
14: 101,731,847 (GRCm39) |
T455M |
probably damaging |
Het |
Tex24 |
C |
T |
8: 27,834,883 (GRCm39) |
T137I |
probably damaging |
Het |
Tmem200a |
A |
C |
10: 25,869,313 (GRCm39) |
S319A |
probably benign |
Het |
Tmem242 |
G |
T |
17: 5,483,745 (GRCm39) |
A99E |
probably damaging |
Het |
Tmem30a |
C |
T |
9: 79,681,446 (GRCm39) |
R277H |
probably benign |
Het |
Tmprss11f |
G |
A |
5: 86,739,269 (GRCm39) |
A4V |
probably benign |
Het |
Triobp |
T |
G |
15: 78,875,640 (GRCm39) |
|
probably null |
Het |
Tshz2 |
A |
T |
2: 169,728,326 (GRCm39) |
Q505L |
probably benign |
Het |
Ttyh1 |
T |
C |
7: 4,131,183 (GRCm39) |
V218A |
probably damaging |
Het |
Vmn2r11 |
A |
T |
5: 109,201,657 (GRCm39) |
Y282* |
probably null |
Het |
Vps13c |
A |
G |
9: 67,861,142 (GRCm39) |
N2891S |
probably benign |
Het |
Xpo5 |
C |
T |
17: 46,551,822 (GRCm39) |
Q1050* |
probably null |
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 |
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 |
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'- TGGACGCCAAGGCTATGAAG -3'
(R):5'- GCCAAACTCAGTAGAAATGTCCTC -3'
Sequencing Primer
(F):5'- GATGACTCTACTGAGCATGTGCATC -3'
(R):5'- TCATCATCACCCCTGGAGG -3'
|
Posted On |
2014-10-16 |