Incidental Mutation 'R9173:Hrc'
| ID |
696535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrc
|
| Ensembl Gene |
ENSMUSG00000038239 |
| Gene Name |
histidine rich calcium binding protein |
| Synonyms |
|
| MMRRC Submission |
068947-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9173 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44984714-44988398 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 44986799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082459
(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 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 null
Transcript: ENSMUST00000085351
|
| SMART Domains |
Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
| 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 |
probably benign
Transcript: ENSMUST00000210541
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211067
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211743
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1a |
G |
T |
9: 119,170,190 (GRCm39) |
|
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,710,564 (GRCm39) |
T79A |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,699,649 (GRCm39) |
R634Q |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,896,939 (GRCm39) |
D753G |
probably damaging |
Het |
| Cyp51 |
T |
C |
5: 4,136,504 (GRCm39) |
N430S |
probably benign |
Het |
| Dnajc17 |
A |
T |
2: 119,009,894 (GRCm39) |
V244D |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,171,379 (GRCm39) |
K1796E |
probably benign |
Het |
| Eftud2 |
A |
T |
11: 102,734,242 (GRCm39) |
V659E |
probably damaging |
Het |
| Ercc4 |
G |
A |
16: 12,939,973 (GRCm39) |
A168T |
possibly damaging |
Het |
| Exd2 |
T |
C |
12: 80,536,236 (GRCm39) |
Y289H |
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,169,763 (GRCm39) |
V2999L |
probably damaging |
Het |
| Fgd5 |
T |
C |
6: 92,044,584 (GRCm39) |
|
probably null |
Het |
| Fkbp9 |
T |
C |
6: 56,850,389 (GRCm39) |
S422P |
possibly damaging |
Het |
| H2bc21 |
T |
C |
3: 96,128,615 (GRCm39) |
V45A |
possibly damaging |
Het |
| H2-Eb2 |
A |
G |
17: 34,552,491 (GRCm39) |
D112G |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,856,350 (GRCm39) |
R3929S |
probably damaging |
Het |
| Ighv5-8 |
T |
A |
12: 113,618,681 (GRCm39) |
V32D |
probably benign |
Het |
| Itgal |
G |
T |
7: 126,896,789 (GRCm39) |
|
probably null |
Het |
| Jcad |
T |
A |
18: 4,675,820 (GRCm39) |
V1194E |
probably benign |
Het |
| Kat8 |
A |
G |
7: 127,511,863 (GRCm39) |
T54A |
probably benign |
Het |
| Kcnu1 |
G |
A |
8: 26,390,074 (GRCm39) |
|
probably null |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,076,597 (GRCm39) |
T1124A |
|
Het |
| Lrp2 |
T |
A |
2: 69,299,731 (GRCm39) |
D3107V |
probably damaging |
Het |
| Map6 |
G |
A |
7: 98,917,935 (GRCm39) |
R236H |
probably damaging |
Het |
| Mycbpap |
T |
A |
11: 94,397,209 (GRCm39) |
N64I |
probably damaging |
Het |
| Nop14 |
A |
G |
5: 34,806,776 (GRCm39) |
S443P |
probably damaging |
Het |
| Nxn |
T |
C |
11: 76,149,560 (GRCm39) |
D380G |
possibly damaging |
Het |
| Or1e28-ps1 |
T |
A |
11: 73,615,734 (GRCm39) |
I39F |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,526,958 (GRCm39) |
M1390L |
probably benign |
Het |
| Pcyox1l |
A |
G |
18: 61,830,663 (GRCm39) |
L403P |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,384,152 (GRCm39) |
S1181G |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,220,520 (GRCm39) |
I76N |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,678,128 (GRCm39) |
E1151G |
probably benign |
Het |
| Rnft1 |
T |
C |
11: 86,377,001 (GRCm39) |
S22P |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,529,147 (GRCm39) |
T733A |
possibly damaging |
Het |
| Serpina1c |
A |
G |
12: 103,862,328 (GRCm39) |
I329T |
possibly damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,761,299 (GRCm39) |
D438G |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,377,285 (GRCm39) |
C438Y |
probably damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,220,753 (GRCm39) |
I566F |
possibly damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,430 (GRCm39) |
E534V |
probably benign |
Het |
| Spata7 |
T |
A |
12: 98,603,853 (GRCm39) |
S73R |
probably damaging |
Het |
| Stau2 |
G |
A |
1: 16,444,933 (GRCm39) |
R332* |
probably null |
Het |
| Sytl3 |
T |
C |
17: 7,000,471 (GRCm39) |
F419L |
probably damaging |
Het |
| Tet1 |
A |
C |
10: 62,676,065 (GRCm39) |
D670E |
probably benign |
Het |
| Trafd1 |
T |
C |
5: 121,516,598 (GRCm39) |
R202G |
possibly damaging |
Het |
| Tubal3 |
A |
T |
13: 3,983,050 (GRCm39) |
T277S |
possibly damaging |
Het |
| Ube4b |
A |
G |
4: 149,415,933 (GRCm39) |
F1054L |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,177,421 (GRCm39) |
Q2750K |
unknown |
Het |
| Usp29 |
T |
C |
7: 6,964,636 (GRCm39) |
S160P |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,510,527 (GRCm39) |
I651N |
probably damaging |
Het |
| Ypel1 |
A |
T |
16: 16,915,298 (GRCm39) |
C103* |
probably null |
Het |
| Zfp11 |
A |
T |
5: 129,734,891 (GRCm39) |
I190N |
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 |
|
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 |
|
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'- TAGACAGGGCTGCAGTTTC -3'
(R):5'- AACCTTATTTCCCCAGTGGC -3'
Sequencing Primer
(F):5'- TCCTGGAGGAAAACCTAC -3'
(R):5'- ACTCCCAGGCTCTCAGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation