Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Hrc'

18529

Institutional Source

Beutler Lab

Gene Symbol

Hrc

Ensembl Gene

ENSMUSG00000038239

Gene Name

histidine rich calcium binding protein

Synonyms

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0047 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

44984714-44988398 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44986113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 421 (S421R)

Ref Sequence

ENSEMBL: ENSMUSP00000082459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000042194] [ENSMUST00000085351] [ENSMUST00000210248] [ENSMUST00000210541] [ENSMUST00000211327] [ENSMUST00000211743] [ENSMUST00000211431] [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: S421R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: S421R

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: ENSMUST00000211327

Predicted Effect

probably benign
Transcript: ENSMUST00000211743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210844

Predicted Effect

probably benign
Transcript: ENSMUST00000211431

Predicted Effect

probably benign
Transcript: ENSMUST00000211067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211098

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 89.2%
3x: 86.3%
10x: 78.8%
20x: 65.9%

Validation Efficiency

95% (110/116)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,025 (GRCm39)	T405A	probably damaging	Het
Acer1	A	T	17: 57,262,624 (GRCm39)	D175E	possibly damaging	Het
Adamts9	G	A	6: 92,882,287 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,857 (GRCm39)	S427P	probably benign	Het
Arid4a	T	G	12: 71,122,193 (GRCm39)	L858W	probably damaging	Het
Bbox1	A	G	2: 110,098,647 (GRCm39)	F310S	probably damaging	Het
Bltp1	T	A	3: 36,962,341 (GRCm39)	L481M	possibly damaging	Het
Bmper	T	A	9: 23,317,982 (GRCm39)	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,068,747 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,589,812 (GRCm39)		probably null	Het
Chchd1	T	C	14: 20,754,231 (GRCm39)	S48P	possibly damaging	Het
Cnot7	A	G	8: 40,948,962 (GRCm39)		probably benign	Het
Cux1	T	C	5: 136,392,107 (GRCm39)		probably benign	Het
Cyp2b19	T	A	7: 26,466,251 (GRCm39)	D351E	probably benign	Het
Dctn1	G	T	6: 83,159,614 (GRCm39)	G31*	probably null	Het
Duox1	T	A	2: 122,177,122 (GRCm39)		probably benign	Het
Egflam	T	G	15: 7,282,911 (GRCm39)	E382A	possibly damaging	Het
Ext1	T	C	15: 53,208,542 (GRCm39)	N73S	probably benign	Het
Glg1	A	T	8: 111,892,214 (GRCm39)	M866K	probably damaging	Het
Gm3333	A	G	13: 62,422,285 (GRCm39)		noncoding transcript	Het
Golm1	T	A	13: 59,792,914 (GRCm39)	H197L	probably benign	Het
Gtse1	A	G	15: 85,746,579 (GRCm39)	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,710,339 (GRCm39)		probably benign	Het
Ighg2c	T	A	12: 113,251,788 (GRCm39)		probably benign	Het
Ihh	A	G	1: 74,985,750 (GRCm39)	I245T	probably benign	Het
Ilf3	T	A	9: 21,300,010 (GRCm39)	M65K	possibly damaging	Het
Kif9	A	G	9: 110,314,106 (GRCm39)	I33V	probably benign	Het
Lama1	A	T	17: 68,102,181 (GRCm39)		probably benign	Het
Lamb1	T	C	12: 31,328,600 (GRCm39)	I188T	possibly damaging	Het
Lpp	T	A	16: 24,480,550 (GRCm39)		probably benign	Het
Mark2	A	C	19: 7,260,942 (GRCm39)		probably benign	Het
Mmp3	T	C	9: 7,451,910 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,928,727 (GRCm39)		probably benign	Het
Mtr	A	T	13: 12,237,112 (GRCm39)	S569T	probably damaging	Het
Myh13	T	A	11: 67,258,063 (GRCm39)	S1752T	probably benign	Het
Myo5a	T	A	9: 75,063,489 (GRCm39)	L565H	probably damaging	Het
Numa1	A	G	7: 101,658,660 (GRCm39)	K296E	probably damaging	Het
Obi1	T	A	14: 104,740,780 (GRCm39)		probably null	Het
Or51ab3	A	T	7: 103,201,529 (GRCm39)	Y179F	probably damaging	Het
Or5ac19	C	T	16: 59,089,574 (GRCm39)	G152D	probably damaging	Het
Or5b120	A	G	19: 13,479,953 (GRCm39)	E82G	probably benign	Het
Pla2g2c	T	C	4: 138,470,901 (GRCm39)		probably benign	Het
Pnpla7	A	T	2: 24,901,618 (GRCm39)	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,073,895 (GRCm39)	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,772,873 (GRCm39)	R117*	probably null	Het
Psg-ps1	A	G	7: 17,411,806 (GRCm39)		noncoding transcript	Het
Rabgap1l	G	A	1: 160,059,359 (GRCm39)		probably benign	Het
Rapgef6	T	A	11: 54,437,204 (GRCm39)	M49K	possibly damaging	Het
Rtel1	T	G	2: 180,965,198 (GRCm39)	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,739,541 (GRCm39)	M219L	probably benign	Het
Serpinb1a	A	T	13: 33,034,259 (GRCm39)	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,264,297 (GRCm39)	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392 (GRCm39)	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,227,068 (GRCm39)	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,076,874 (GRCm39)		probably benign	Het
Snx13	C	A	12: 35,151,123 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,494,402 (GRCm39)	A828T	probably damaging	Het
Spic	A	G	10: 88,511,803 (GRCm39)	L151P	probably damaging	Het
Sptb	G	T	12: 76,669,724 (GRCm39)	Q535K	probably damaging	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,446,443 (GRCm39)		probably benign	Het
Tcaf2	A	G	6: 42,606,547 (GRCm39)	I469T	probably benign	Het
Tln2	A	G	9: 67,147,954 (GRCm39)		probably benign	Het
Top2a	T	A	11: 98,888,682 (GRCm39)	I1260L	probably benign	Het
Treml1	C	A	17: 48,672,008 (GRCm39)	S91*	probably null	Het
Trmt11	T	C	10: 30,411,239 (GRCm39)	N418S	probably benign	Het
Ttf1	A	G	2: 28,974,667 (GRCm39)	Y801C	probably damaging	Het
Usp34	C	T	11: 23,414,403 (GRCm39)	A2782V	probably benign	Het
Vps4a	T	C	8: 107,763,333 (GRCm39)	L29P	probably damaging	Het
Wdfy3	A	G	5: 102,091,899 (GRCm39)	I480T	probably damaging	Het
Ywhag	A	T	5: 135,940,153 (GRCm39)	V147E	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
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
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

Posted On

2013-03-25