Incidental Mutation 'R4169:Hrc'
| ID |
320692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrc
|
| Ensembl Gene |
ENSMUSG00000038239 |
| Gene Name |
histidine rich calcium binding protein |
| Synonyms |
|
| MMRRC Submission |
041010-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4169 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44984714-44988398 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44986181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 444
(D444G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003961]
[ENSMUST00000042194]
[ENSMUST00000085351]
[ENSMUST00000210248]
[ENSMUST00000210541]
[ENSMUST00000211431]
[ENSMUST00000211327]
[ENSMUST00000211743]
[ENSMUST00000211067]
|
| 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: D444G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: D444G
| 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: ENSMUST00000211431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211411
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211743
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211067
|
| Meta Mutation Damage Score |
0.0817 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 103,002,157 (GRCm39) |
M546K |
probably damaging |
Het |
| Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,649,325 (GRCm39) |
L9P |
probably benign |
Het |
| Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,479,391 (GRCm39) |
P758L |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,476,549 (GRCm39) |
Y241* |
probably null |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,205,872 (GRCm39) |
T1042A |
possibly damaging |
Het |
| Gm5445 |
A |
G |
13: 12,393,527 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat3 |
T |
C |
5: 18,208,862 (GRCm39) |
F189L |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,837,008 (GRCm39) |
T815A |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,471,750 (GRCm39) |
|
probably null |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,166 (GRCm39) |
I70F |
possibly damaging |
Het |
| Kat7 |
A |
G |
11: 95,171,298 (GRCm39) |
F469L |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
| Krtap6-1 |
A |
G |
16: 88,828,584 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mthfr-ps1 |
T |
C |
5: 78,622,436 (GRCm39) |
|
noncoding transcript |
Het |
| Nop53 |
A |
T |
7: 15,676,244 (GRCm39) |
W152R |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,591 (GRCm39) |
M62K |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,277,162 (GRCm39) |
S324R |
unknown |
Het |
| Or8s8 |
A |
G |
15: 98,354,878 (GRCm39) |
E229G |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,331,358 (GRCm39) |
N548K |
probably damaging |
Het |
| Pcdhga12 |
A |
G |
18: 37,899,467 (GRCm39) |
I100V |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,183,675 (GRCm39) |
H1743R |
probably benign |
Het |
| Pkdrej |
A |
G |
15: 85,700,515 (GRCm39) |
V1807A |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,474,582 (GRCm39) |
M1V |
probably null |
Het |
| Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
| Rfng |
C |
G |
11: 120,674,772 (GRCm39) |
G73R |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,188 (GRCm39) |
L459P |
possibly damaging |
Het |
| Samd11 |
T |
A |
4: 156,332,203 (GRCm39) |
D536V |
probably damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,084,032 (GRCm39) |
T451A |
possibly damaging |
Het |
| Snapc1 |
T |
A |
12: 74,029,265 (GRCm39) |
N349K |
probably benign |
Het |
| Sox1ot |
A |
G |
8: 12,480,544 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem178 |
C |
T |
17: 81,252,232 (GRCm39) |
H39Y |
possibly damaging |
Het |
| Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,703,103 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,762,909 (GRCm39) |
D3250G |
probably damaging |
Het |
| Ube2nl |
T |
A |
7: 61,199,380 (GRCm39) |
|
noncoding transcript |
Het |
| Vps25 |
T |
C |
11: 101,144,918 (GRCm39) |
S39P |
probably damaging |
Het |
| Zkscan14 |
G |
A |
5: 145,132,985 (GRCm39) |
T182I |
possibly 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 |
|
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'- GACTACCATCATGTCCCCAG -3'
(R):5'- TGAGAGCTGTGGTCACCTTC -3'
Sequencing Primer
(F):5'- ATCATGTCCCCAGCCATGGC -3'
(R):5'- TGATGAGCAATCTCTCCCTGAACAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation