Incidental Mutation 'R3551:Hrc'
| ID |
268341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrc
|
| Ensembl Gene |
ENSMUSG00000038239 |
| Gene Name |
histidine rich calcium binding protein |
| Synonyms |
|
| MMRRC Submission |
040668-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3551 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44984714-44988398 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 44985757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 303
(E303Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003961]
[ENSMUST00000042194]
[ENSMUST00000085351]
[ENSMUST00000210248]
[ENSMUST00000210541]
[ENSMUST00000211067]
[ENSMUST00000211431]
[ENSMUST00000211327]
[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: E303Q
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: E303Q
| 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: ENSMUST00000211098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210844
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
| Adam24 |
G |
C |
8: 41,132,632 (GRCm39) |
W33C |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,564,599 (GRCm39) |
V327E |
probably damaging |
Het |
| Aqp7 |
T |
A |
4: 41,045,329 (GRCm39) |
N17I |
probably benign |
Het |
| Bicra |
T |
A |
7: 15,713,658 (GRCm39) |
Q848L |
probably benign |
Het |
| C4b |
T |
C |
17: 34,960,846 (GRCm39) |
E240G |
possibly damaging |
Het |
| Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,508,842 (GRCm39) |
N50I |
probably damaging |
Het |
| Dcaf7 |
A |
G |
11: 105,945,622 (GRCm39) |
T324A |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,492,929 (GRCm39) |
R1230H |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,584,813 (GRCm39) |
V176M |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,039,141 (GRCm39) |
I339T |
probably damaging |
Het |
| Edc4 |
A |
T |
8: 106,612,126 (GRCm39) |
I138F |
probably damaging |
Het |
| Ercc6l2 |
T |
A |
13: 63,992,409 (GRCm39) |
V401E |
probably damaging |
Het |
| Gm3269 |
T |
A |
14: 16,033,003 (GRCm39) |
V260D |
possibly damaging |
Het |
| Gm4076 |
C |
T |
13: 85,275,269 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4922 |
A |
T |
10: 18,660,244 (GRCm39) |
N159K |
probably benign |
Het |
| Gm5134 |
G |
T |
10: 75,836,281 (GRCm39) |
A421S |
probably benign |
Het |
| Ipo4 |
A |
G |
14: 55,870,560 (GRCm39) |
V288A |
probably benign |
Het |
| Kng2 |
A |
G |
16: 22,830,745 (GRCm39) |
|
probably null |
Het |
| Lrfn1 |
T |
C |
7: 28,159,479 (GRCm39) |
L466P |
possibly damaging |
Het |
| Magi1 |
T |
A |
6: 93,676,610 (GRCm39) |
K916N |
probably damaging |
Het |
| Mms19 |
T |
C |
19: 41,938,237 (GRCm39) |
T720A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
| Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
| Npas2 |
A |
T |
1: 39,326,643 (GRCm39) |
M43L |
probably benign |
Het |
| Nup43 |
A |
G |
10: 7,550,778 (GRCm39) |
D216G |
possibly damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
| Pear1 |
A |
G |
3: 87,665,439 (GRCm39) |
F145L |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,569,302 (GRCm39) |
S355P |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,985,963 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
T |
C |
5: 21,194,047 (GRCm39) |
K742E |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
| Sema4c |
G |
C |
1: 36,592,804 (GRCm39) |
T138S |
probably benign |
Het |
| Slc4a2 |
C |
T |
5: 24,635,099 (GRCm39) |
T168M |
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,654,322 (GRCm39) |
K647E |
probably benign |
Het |
| Spice1 |
G |
T |
16: 44,178,232 (GRCm39) |
S85I |
probably damaging |
Het |
| Thrb |
T |
A |
14: 17,963,214 (GRCm38) |
I59N |
probably damaging |
Het |
| Trav7-1 |
A |
G |
14: 52,892,756 (GRCm39) |
D103G |
probably damaging |
Het |
| Ubap2l |
G |
T |
3: 89,922,758 (GRCm39) |
T766N |
unknown |
Het |
| Zfp692 |
C |
T |
11: 58,200,254 (GRCm39) |
T170I |
possibly damaging |
Het |
| Zfp704 |
A |
G |
3: 9,539,585 (GRCm39) |
V255A |
probably damaging |
Het |
| Zfp759 |
T |
C |
13: 67,287,031 (GRCm39) |
V194A |
probably benign |
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 |
|
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'- TCTCTACTGAGCATGGACACC -3'
(R):5'- TGATGCACATGCTCAGTAGAG -3'
Sequencing Primer
(F):5'- AGCTCACAGATATCAGGATCATG -3'
(R):5'- GATGCACATGCTCAGTAGAGTCATC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation