Incidental Mutation 'R5761:Hrc'
ID |
445301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hrc
|
Ensembl Gene |
ENSMUSG00000038239 |
Gene Name |
histidine rich calcium binding protein |
Synonyms |
|
MMRRC Submission |
043363-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5761 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44984714-44988398 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 44986025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147793
(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 null
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: Q392L
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000082459 Gene: ENSMUSG00000038239 AA Change: Q392L
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 |
noncoding transcript
Transcript: ENSMUST00000211411
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210844
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211098
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211327
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211431
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211743
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
99% (67/68) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,100,927 (GRCm39) |
V953D |
probably damaging |
Het |
Abcb8 |
T |
C |
5: 24,610,879 (GRCm39) |
|
probably benign |
Het |
Acad12 |
A |
T |
5: 121,742,243 (GRCm39) |
|
probably benign |
Het |
Adam2 |
A |
T |
14: 66,283,595 (GRCm39) |
C436S |
probably damaging |
Het |
Aebp2 |
T |
C |
6: 140,569,943 (GRCm39) |
|
probably benign |
Het |
Akap8 |
A |
T |
17: 32,536,159 (GRCm39) |
C85S |
possibly damaging |
Het |
Aldh1a3 |
C |
A |
7: 66,068,927 (GRCm39) |
R19L |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,955,559 (GRCm39) |
T848A |
possibly damaging |
Het |
Bud13 |
C |
T |
9: 46,199,350 (GRCm39) |
A237V |
probably benign |
Het |
Cbarp |
CGCCTCTGCTGCCTCT |
CGCCTCT |
10: 79,968,067 (GRCm39) |
|
probably benign |
Het |
Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
Ccz1 |
C |
T |
5: 143,929,328 (GRCm39) |
G367R |
probably damaging |
Het |
Cep104 |
T |
C |
4: 154,065,681 (GRCm39) |
V56A |
possibly damaging |
Het |
Chd6 |
C |
A |
2: 160,798,998 (GRCm39) |
R2362S |
probably damaging |
Het |
Chd6 |
C |
T |
2: 160,798,999 (GRCm39) |
R2362K |
probably damaging |
Het |
Cmc1 |
T |
C |
9: 117,944,443 (GRCm39) |
E25G |
probably benign |
Het |
Cntnap5b |
T |
C |
1: 100,374,619 (GRCm39) |
S1123P |
probably damaging |
Het |
Col4a3 |
T |
A |
1: 82,693,778 (GRCm39) |
L66* |
probably null |
Het |
Crmp1 |
A |
G |
5: 37,440,212 (GRCm39) |
T329A |
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyp3a16 |
A |
G |
5: 145,378,843 (GRCm39) |
S393P |
possibly damaging |
Het |
Cyp4f18 |
T |
A |
8: 72,749,975 (GRCm39) |
I225F |
probably damaging |
Het |
Ddhd2 |
A |
G |
8: 26,231,726 (GRCm39) |
V432A |
probably benign |
Het |
Ecpas |
T |
C |
4: 58,853,131 (GRCm39) |
I401M |
probably damaging |
Het |
Foxq1 |
G |
A |
13: 31,743,314 (GRCm39) |
A139T |
probably damaging |
Het |
Gm10428 |
G |
T |
11: 62,644,169 (GRCm39) |
|
probably benign |
Het |
Gpr89 |
A |
G |
3: 96,800,196 (GRCm39) |
L134P |
probably damaging |
Het |
Hjv |
T |
C |
3: 96,435,938 (GRCm39) |
S399P |
probably benign |
Het |
Igf1r |
T |
A |
7: 67,857,001 (GRCm39) |
Y988N |
probably damaging |
Het |
Igf2r |
A |
C |
17: 12,917,239 (GRCm39) |
|
probably null |
Het |
Itga2b |
A |
G |
11: 102,357,100 (GRCm39) |
F260S |
probably benign |
Het |
Kif2a |
T |
A |
13: 107,098,672 (GRCm39) |
N698I |
probably benign |
Het |
Lap3 |
A |
C |
5: 45,662,147 (GRCm39) |
I316L |
probably benign |
Het |
Map2k6 |
T |
G |
11: 110,290,197 (GRCm39) |
|
probably benign |
Het |
Mtrex |
T |
A |
13: 113,054,196 (GRCm39) |
I146F |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,110,078 (GRCm39) |
E1422G |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,250,061 (GRCm39) |
V1081A |
probably benign |
Het |
Nom1 |
A |
G |
5: 29,642,639 (GRCm39) |
E380G |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,882,573 (GRCm39) |
Y75F |
probably damaging |
Het |
Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
Or51a24 |
G |
A |
7: 103,733,376 (GRCm39) |
R304W |
probably benign |
Het |
Pkd1l1 |
A |
G |
11: 8,866,301 (GRCm39) |
V518A |
probably damaging |
Het |
Ptgs2 |
A |
G |
1: 149,981,279 (GRCm39) |
M521V |
probably benign |
Het |
Qsox1 |
T |
A |
1: 155,655,274 (GRCm39) |
M630L |
probably benign |
Het |
Spty2d1 |
A |
G |
7: 46,648,032 (GRCm39) |
L299P |
probably damaging |
Het |
St6gal1 |
T |
G |
16: 23,139,805 (GRCm39) |
|
probably benign |
Het |
Sult2a6 |
T |
C |
7: 13,984,283 (GRCm39) |
Y149C |
probably damaging |
Het |
Tlr3 |
G |
A |
8: 45,855,808 (GRCm39) |
T124M |
probably benign |
Het |
Tmem171 |
A |
G |
13: 98,829,019 (GRCm39) |
Y44H |
probably damaging |
Het |
Usp35 |
C |
T |
7: 96,961,558 (GRCm39) |
V623I |
probably benign |
Het |
Vangl2 |
T |
A |
1: 171,833,694 (GRCm39) |
H463L |
probably damaging |
Het |
Vmn1r175 |
A |
C |
7: 23,507,905 (GRCm39) |
L241V |
probably benign |
Het |
Vmn1r19 |
A |
T |
6: 57,382,338 (GRCm39) |
K297I |
unknown |
Het |
Vmn2r23 |
C |
A |
6: 123,689,718 (GRCm39) |
T198K |
probably benign |
Het |
Vmn2r-ps69 |
T |
A |
7: 84,953,223 (GRCm39) |
|
noncoding transcript |
Het |
Xirp2 |
A |
G |
2: 67,341,311 (GRCm39) |
Y1184C |
probably benign |
Het |
Ythdc1 |
A |
G |
5: 86,983,810 (GRCm39) |
|
probably benign |
Het |
Zbtb39 |
C |
T |
10: 127,578,515 (GRCm39) |
A363V |
probably damaging |
Het |
Zmiz1 |
T |
A |
14: 25,651,728 (GRCm39) |
I527K |
possibly damaging |
Het |
Zmiz1 |
C |
A |
14: 25,651,730 (GRCm39) |
P534T |
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 |
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'- GATCATCATGTCTCCAGGCATG -3'
(R):5'- GATGGCCTGGGACTTCATTCATG -3'
Sequencing Primer
(F):5'- CATGGACGCCAAGGCTATG -3'
(R):5'- ATTCATGTGTTCTTCTAGAGAGTCC -3'
|
Posted On |
2016-11-21 |