Incidental Mutation 'R5390:Hrc'
| ID |
425516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrc
|
| Ensembl Gene |
ENSMUSG00000038239 |
| Gene Name |
histidine rich calcium binding protein |
| Synonyms |
|
| MMRRC Submission |
042962-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5390 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44984714-44988398 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44984909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 20
(L20Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003961]
[ENSMUST00000042194]
[ENSMUST00000085351]
[ENSMUST00000210248]
[ENSMUST00000210541]
[ENSMUST00000211327]
[ENSMUST00000211067]
[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: L20Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: L20Q
| 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 damaging
Transcript: ENSMUST00000211327
AA Change: L20Q
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211411
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211067
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210844
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211431
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5830454E08Rik |
T |
C |
9: 120,406,772 (GRCm39) |
|
probably benign |
Het |
| Anxa4 |
G |
A |
6: 86,730,865 (GRCm39) |
T104M |
probably damaging |
Het |
| BC048562 |
G |
T |
9: 108,313,777 (GRCm39) |
W9L |
probably damaging |
Het |
| Cachd1 |
T |
A |
4: 100,838,203 (GRCm39) |
M822K |
probably damaging |
Het |
| Clec4g |
C |
A |
8: 3,768,441 (GRCm39) |
V97L |
probably benign |
Het |
| Ddx19a |
G |
A |
8: 111,707,263 (GRCm39) |
Q176* |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,710,096 (GRCm39) |
H1413R |
probably damaging |
Het |
| Fam161b |
C |
T |
12: 84,395,408 (GRCm39) |
V512M |
probably damaging |
Het |
| Glcci1 |
A |
T |
6: 8,537,835 (GRCm39) |
Q151L |
probably benign |
Het |
| Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gpnmb |
A |
T |
6: 49,024,775 (GRCm39) |
D269V |
probably damaging |
Het |
| Gpx3 |
A |
T |
11: 54,800,375 (GRCm39) |
D191V |
probably damaging |
Het |
| Grm4 |
C |
T |
17: 27,653,712 (GRCm39) |
C491Y |
probably damaging |
Het |
| H2-M10.4 |
T |
A |
17: 36,771,533 (GRCm39) |
H215L |
probably damaging |
Het |
| Hsd17b6 |
T |
A |
10: 127,827,308 (GRCm39) |
M255L |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,322,099 (GRCm39) |
I4584L |
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,807,630 (GRCm39) |
L294Q |
probably damaging |
Het |
| Ints5 |
T |
A |
19: 8,873,931 (GRCm39) |
I630K |
possibly damaging |
Het |
| Kctd10 |
A |
G |
5: 114,503,764 (GRCm39) |
I296T |
possibly damaging |
Het |
| Ltv1 |
G |
A |
10: 13,058,103 (GRCm39) |
R234C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,365,546 (GRCm39) |
S1507P |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,039,714 (GRCm39) |
G936D |
possibly damaging |
Het |
| Ms4a4d |
T |
C |
19: 11,526,004 (GRCm39) |
|
probably null |
Het |
| Net1 |
C |
T |
13: 3,943,379 (GRCm39) |
A3T |
probably benign |
Het |
| Nlrp2 |
T |
C |
7: 5,303,908 (GRCm39) |
M206V |
probably benign |
Het |
| Or1j1 |
C |
T |
2: 36,702,444 (GRCm39) |
R220H |
probably benign |
Het |
| Or5an1b |
T |
A |
19: 12,299,505 (GRCm39) |
I229F |
probably damaging |
Het |
| Pcyox1l |
T |
C |
18: 61,832,433 (GRCm39) |
I205V |
probably benign |
Het |
| Pigo |
A |
G |
4: 43,019,645 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
A |
T |
15: 79,173,893 (GRCm39) |
S590T |
possibly damaging |
Het |
| Pwp2 |
T |
C |
10: 78,013,605 (GRCm39) |
T539A |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,079 (GRCm39) |
T688A |
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,990,279 (GRCm39) |
T676A |
probably benign |
Het |
| Slc26a6 |
T |
C |
9: 108,738,499 (GRCm39) |
|
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,272,778 (GRCm39) |
H653R |
probably damaging |
Het |
| Stk3 |
T |
A |
15: 35,114,706 (GRCm39) |
K67* |
probably null |
Het |
| Tctn2 |
A |
ACC |
5: 124,762,400 (GRCm39) |
|
probably benign |
Homo |
| Ttn |
T |
C |
2: 76,540,395 (GRCm39) |
Y34197C |
probably damaging |
Het |
| Ufc1 |
A |
C |
1: 171,117,746 (GRCm39) |
L56R |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,394,202 (GRCm39) |
|
probably null |
Het |
| Vnn3 |
T |
A |
10: 23,727,483 (GRCm39) |
M1K |
probably null |
Het |
| Zfp653 |
C |
A |
9: 21,969,099 (GRCm39) |
|
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 |
|
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 |
|
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'- ATCCTCAGAGGGTCATCCAAG -3'
(R):5'- GGAGAAGTCTTCACCCTCTTC -3'
Sequencing Primer
(F):5'- GTCATCCAAGACCTGAGGAAG -3'
(R):5'- AGAAGTCTTCACCCTCTTCTCTGTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation