Mutagenetix > Incidental Mutation

Incidental Mutation 'R7673:Hrc'

592308

Institutional Source

Beutler Lab

Gene Symbol

Hrc

Ensembl Gene

ENSMUSG00000038239

Gene Name

histidine rich calcium binding protein

Synonyms

MMRRC Submission

045743-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7673 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44984714-44988398 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44986658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 603 (E603G)

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 benign
Transcript: ENSMUST00000085351
AA Change: E603G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: E603G

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,030,555 (GRCm39)	A682S	probably benign	Het
Acad11	A	T	9: 103,941,105 (GRCm39)		probably null	Het
Ahctf1	A	T	1: 179,590,411 (GRCm39)	D1287E	probably benign	Het
Aldh9a1	C	A	1: 167,189,119 (GRCm39)	L360M	probably benign	Het
Ank3	A	T	10: 69,826,331 (GRCm39)	I1667F		Het
Atp8b3	A	G	10: 80,360,240 (GRCm39)	Y944H	probably damaging	Het
Ccdc30	T	C	4: 119,210,369 (GRCm39)	D316G	probably damaging	Het
Ccdc50	T	C	16: 27,225,425 (GRCm39)	I46T	possibly damaging	Het
Cfap74	T	G	4: 155,547,513 (GRCm39)	I1233S	unknown	Het
Chd9	A	G	8: 91,778,325 (GRCm39)	M2779V	probably damaging	Het
Cmya5	A	T	13: 93,230,629 (GRCm39)	D1486E	probably benign	Het
Creb3	T	C	4: 43,563,117 (GRCm39)	V72A	not run	Het
Cxcl17	C	A	7: 25,102,293 (GRCm39)	C50F	probably damaging	Het
Dcaf11	C	A	14: 55,806,762 (GRCm39)	N528K	probably benign	Het
Ddx46	T	C	13: 55,806,972 (GRCm39)	V535A	probably benign	Het
Det1	A	T	7: 78,493,359 (GRCm39)	V215D	possibly damaging	Het
Dnaja3	A	G	16: 4,512,328 (GRCm39)	N244S	probably benign	Het
Dnajc13	G	T	9: 104,110,891 (GRCm39)	P127T	probably benign	Het
Dnm2	T	A	9: 21,392,717 (GRCm39)		probably null	Het
Fam117a	G	T	11: 95,262,322 (GRCm39)	R142L	probably benign	Het
Fpr-rs6	T	C	17: 20,402,999 (GRCm39)	M121V	probably benign	Het
Gatad1	T	C	5: 3,696,867 (GRCm39)	T95A	probably benign	Het
Gdap2	A	G	3: 100,099,015 (GRCm39)	D369G	probably benign	Het
Gm12185	A	T	11: 48,798,455 (GRCm39)	D679E	probably benign	Het
Gm5519	G	C	19: 33,802,428 (GRCm39)	G157A	probably benign	Het
Gmeb2	T	A	2: 180,902,181 (GRCm39)	H123L	probably benign	Het
Golgb1	C	T	16: 36,734,031 (GRCm39)	P1134S	probably benign	Het
Gsdmc2	G	T	15: 63,696,932 (GRCm39)	A413D	probably damaging	Het
Hck	C	T	2: 152,971,005 (GRCm39)	A89V	possibly damaging	Het
Heatr5b	G	A	17: 79,103,412 (GRCm39)	T1147M	probably damaging	Het
Hoxb2	A	T	11: 96,244,283 (GRCm39)	D298V	possibly damaging	Het
Hsd3b5	C	A	3: 98,526,757 (GRCm39)	A230S	probably damaging	Het
Hsh2d	A	G	8: 72,954,355 (GRCm39)	S246G	probably benign	Het
Ifna4	A	C	4: 88,760,309 (GRCm39)	Q71P	possibly damaging	Het
Il4i1	A	G	7: 44,489,786 (GRCm39)	E517G	probably benign	Het
Kdm6b	A	C	11: 69,296,568 (GRCm39)	S566R	probably damaging	Het
Lamc2	T	A	1: 152,999,782 (GRCm39)	Q1192H	probably damaging	Het
Map2	T	C	1: 66,452,933 (GRCm39)	S608P	probably benign	Het
Marchf9	T	C	10: 126,892,468 (GRCm39)	E340G	probably damaging	Het
Mcm3	A	G	1: 20,882,238 (GRCm39)	L442P	probably damaging	Het
Mreg	A	C	1: 72,200,123 (GRCm39)	M189R	probably benign	Het
Myh4	A	T	11: 67,136,339 (GRCm39)	R406W	probably damaging	Het
Nol8	A	G	13: 49,818,256 (GRCm39)	D842G	probably benign	Het
Nrros	T	A	16: 31,981,099 (GRCm39)	I10F	unknown	Het
Obscn	G	A	11: 58,918,263 (GRCm39)	P210S		Het
Or4f59	T	A	2: 111,872,925 (GRCm39)	M151L	probably benign	Het
Or5g29	T	C	2: 85,421,406 (GRCm39)	I174T	possibly damaging	Het
Or8b40	A	T	9: 38,027,523 (GRCm39)	T149S	probably benign	Het
Or8k38	T	C	2: 86,488,070 (GRCm39)	H244R	probably damaging	Het
Orai1	A	G	5: 123,167,505 (GRCm39)	H226R	probably benign	Het
Pcdhb18	G	T	18: 37,624,790 (GRCm39)	V707L	probably benign	Het
Pex5	A	T	6: 124,376,342 (GRCm39)	L420Q	probably damaging	Het
Rab8a	A	G	8: 72,915,140 (GRCm39)		probably benign	Het
Rexo4	G	A	2: 26,848,505 (GRCm39)	H339Y	probably benign	Het
Rif1	G	A	2: 51,978,666 (GRCm39)	V369M	probably damaging	Het
Rpgrip1l	A	T	8: 92,027,415 (GRCm39)	I208K	possibly damaging	Het
Sbno1	G	A	5: 124,551,279 (GRCm39)	P68L	probably benign	Het
Selenop	G	T	15: 3,304,340 (GRCm39)	C62F	probably damaging	Het
Slc13a4	A	T	6: 35,253,411 (GRCm39)	V397D	probably damaging	Het
Slc4a3	T	C	1: 75,533,995 (GRCm39)	V1114A	probably damaging	Het
Stard3nl	A	T	13: 19,551,923 (GRCm39)	S214T	probably benign	Het
Stra8	T	A	6: 34,904,853 (GRCm39)		probably null	Het
Stx8	T	C	11: 67,875,465 (GRCm39)	F97L	probably benign	Het
Thsd7b	A	G	1: 129,843,487 (GRCm39)		probably null	Het
Tmem94	T	C	11: 115,679,204 (GRCm39)	I251T	probably benign	Het
Top6bl	A	C	19: 4,695,661 (GRCm39)	D530E	probably damaging	Het
Toporsl	A	T	4: 52,610,679 (GRCm39)	T191S	probably damaging	Het
Vmn1r53	T	A	6: 90,200,625 (GRCm39)	E233V	probably damaging	Het
Wdr49	A	T	3: 75,358,214 (GRCm39)	L177Q	probably damaging	Het
Wnt8b	T	C	19: 44,500,127 (GRCm39)	L238P	possibly damaging	Het
Xirp2	T	C	2: 67,347,431 (GRCm39)	V3224A	probably damaging	Het
Zfp583	G	T	7: 6,320,009 (GRCm39)	N334K	possibly damaging	Het
Zfp60	T	A	7: 27,447,740 (GRCm39)	I136N	probably benign	Het
Zmynd15	G	T	11: 70,356,866 (GRCm39)	R722L	unknown	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
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'- CAGCTCTCAAGAGGGAGATG -3'
(R):5'- ACCCTGGCTGGTAATTTTCG -3'

Sequencing Primer
(F):5'- CTCTCAAGAGGGAGATGAAGACCC -3'
(R):5'- AACAGTGACTCGAGCTGGC -3'

Posted On

2019-11-12