Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Hrc'

567501

Institutional Source

Beutler Lab

Gene Symbol

Hrc

Ensembl Gene

ENSMUSG00000038239

Gene Name

histidine rich calcium binding protein

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45335290-45338974 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 45335803 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 126 (L126*)

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
AA Change: L126*

SMART Domains

Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: L126*

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,880,268	Q192L	possibly damaging	Het
3110002H16Rik	A	G	18: 12,184,915	K362E	probably benign	Het
Abat	G	A	16: 8,605,593	R250Q	probably null	Het
Abcg3	A	C	5: 104,966,766	F295C	probably benign	Het
Abl1	T	C	2: 31,800,592	S708P	possibly damaging	Het
Acap2	A	T	16: 31,108,154	Y489*	probably null	Het
Akr1c6	A	T	13: 4,436,355	M54L	probably benign	Het
Arhgap5	A	T	12: 52,542,487		probably null	Het
Asap1	A	G	15: 64,099,530		probably null	Het
Atrnl1	A	T	19: 57,642,424	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,139		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,888,148		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,888,173		probably benign	Het
BC049762	A	C	11: 51,254,647	W38G	probably damaging	Het
Bmi1	T	C	2: 18,684,419	S305P	probably benign	Het
Bpifc	T	A	10: 85,963,027	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,415,238	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,314,916	D428V	probably damaging	Het
Card14	A	C	11: 119,326,179	Q363P	probably null	Het
Cdca2	A	T	14: 67,713,224	L86H	probably damaging	Het
Cdh22	G	T	2: 165,112,294	S769*	probably null	Het
Cep164	T	C	9: 45,775,366	E690G	probably damaging	Het
Cluh	A	G	11: 74,669,459	H1304R	probably benign	Het
Daxx	C	A	17: 33,910,461	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,596,967	M1117V	possibly damaging	Het
Dusp27	G	A	1: 166,098,731	T1104I	possibly damaging	Het
Entpd3	T	A	9: 120,560,755		probably null	Het
Esr1	G	A	10: 4,939,259	A386T	probably damaging	Het
Etv5	G	A	16: 22,401,737	P300L	probably benign	Het
Exoc3l	A	T	8: 105,293,708	L195Q	probably damaging	Het
Exog	T	C	9: 119,445,003	L18P	unknown	Het
Fgfr1	T	A	8: 25,562,315	V219D	probably benign	Het
Gm28710	A	G	5: 16,870,248	Y872C	possibly damaging	Het
Gna14	A	T	19: 16,533,749	Q54L		Het
Gnb5	T	C	9: 75,314,288	L48P	probably benign	Het
Gpbp1	A	G	13: 111,453,390	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,241,457	D48E	probably damaging	Het
Hspa8	T	G	9: 40,803,408	D333E	probably benign	Het
Igsf3	T	A	3: 101,431,579	V403D	probably benign	Het
Itga10	C	A	3: 96,648,159	A143D	probably damaging	Het
Kdr	T	A	5: 75,944,325	I1082F	probably damaging	Het
Klk11	A	T	7: 43,778,830	I242F	probably damaging	Het
Kng2	G	A	16: 22,987,772	T559I	probably benign	Het
Map1b	G	A	13: 99,433,655	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,462,251	T358S	probably damaging	Het
Mttp	T	C	3: 138,095,022	D759G	probably damaging	Het
Mup17	T	A	4: 61,593,692	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,705,828	A79S	probably damaging	Het
Myo9a	T	A	9: 59,871,153	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,381		probably null	Het
Ncf1	A	T	5: 134,221,761	S402T	probably benign	Het
Ndufb10	T	C	17: 24,722,214	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,830,583	T163M	possibly damaging	Het
Nol4	A	T	18: 22,770,744	H172Q		Het
Nup205	T	A	6: 35,225,969	D1370E	possibly damaging	Het
Olfr1447	A	G	19: 12,901,273	F169S	probably damaging	Het
Olfr392	A	C	11: 73,814,286	N265K	probably damaging	Het
Olfr613	T	A	7: 103,552,685	I300N	probably damaging	Het
Pkd1l2	A	G	8: 117,024,034	V1746A	probably benign	Het
Plin2	T	A	4: 86,668,391	I68F	probably benign	Het
Proc	A	T	18: 32,135,899	M11K	probably benign	Het
Rif1	T	C	2: 52,105,619	V950A	probably benign	Het
Rnf208	C	A	2: 25,243,575	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,521,011	Y269*	probably null	Het
Senp7	T	C	16: 56,186,082	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,372,495	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,399,696	H383N	probably benign	Het
Slc12a5	G	A	2: 164,992,440	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,379,025	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,202,348	I199L	probably damaging	Het
Tle4	A	T	19: 14,517,791	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,031,651	S271*	probably null	Het
Tnks2	G	A	19: 36,879,439	V855I	probably benign	Het
Trank1	T	C	9: 111,367,126	L1406S	probably damaging	Het
Trhde	T	C	10: 114,800,573	E243G	probably damaging	Het
Trim25	A	T	11: 89,015,782	N448I	probably benign	Het
Trim31	T	A	17: 36,907,302	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,066,279	V502E	possibly damaging	Het
Usp10	A	C	8: 119,941,605	D215A	possibly damaging	Het
Usp33	T	G	3: 152,360,389	L102*	probably null	Het
Wdr12	A	T	1: 60,082,575	C272*	probably null	Het
Xndc1	A	C	7: 102,078,731		probably null	Het
Zkscan2	T	C	7: 123,490,053	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,984,688	T822S	probably benign	Het

Other mutations in Hrc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03379:Hrc	APN	7	45337255	missense	probably benign	0.27
BB004:Hrc	UTSW	7	45336053	missense	possibly damaging	0.53
BB014:Hrc	UTSW	7	45336053	missense	possibly damaging	0.53
R0017:Hrc	UTSW	7	45336370	missense	possibly damaging	0.71
R0047:Hrc	UTSW	7	45336689	missense	probably benign	0.00
R0047:Hrc	UTSW	7	45336689	missense	probably benign	0.00
R0310:Hrc	UTSW	7	45336497	missense	probably benign
R0436:Hrc	UTSW	7	45336133	missense	possibly damaging	0.53
R0534:Hrc	UTSW	7	45337235	unclassified	probably benign
R1230:Hrc	UTSW	7	45336463	missense	possibly damaging	0.85
R1808:Hrc	UTSW	7	45336778	missense	probably damaging	0.99
R1975:Hrc	UTSW	7	45336214	missense	probably damaging	0.98
R1977:Hrc	UTSW	7	45336214	missense	probably damaging	0.98
R2258:Hrc	UTSW	7	45336681	missense	possibly damaging	0.68
R2260:Hrc	UTSW	7	45336681	missense	possibly damaging	0.68
R3551:Hrc	UTSW	7	45336333	missense	possibly damaging	0.72
R3552:Hrc	UTSW	7	45336333	missense	possibly damaging	0.72
R4169:Hrc	UTSW	7	45336757	missense	probably benign	0.00
R5085:Hrc	UTSW	7	45337021	missense	probably damaging	0.99
R5204:Hrc	UTSW	7	45335704	missense	possibly damaging	0.96
R5215:Hrc	UTSW	7	45336091	missense	probably damaging	0.99
R5245:Hrc	UTSW	7	45335431	missense	probably damaging	1.00
R5390:Hrc	UTSW	7	45335485	missense	probably damaging	0.96
R5432:Hrc	UTSW	7	45336861	missense	possibly damaging	0.72
R5756:Hrc	UTSW	7	45336706	missense	possibly damaging	0.85
R5761:Hrc	UTSW	7	45336601	splice site	probably null
R5905:Hrc	UTSW	7	45336234	missense	probably damaging	0.99
R6144:Hrc	UTSW	7	45336733	missense	possibly damaging	0.86
R6684:Hrc	UTSW	7	45336532	missense	possibly damaging	0.53
R6699:Hrc	UTSW	7	45335695	missense	possibly damaging	0.85
R6809:Hrc	UTSW	7	45336379	missense	probably benign
R6887:Hrc	UTSW	7	45335664	missense	probably benign	0.18
R7178:Hrc	UTSW	7	45336261	missense	possibly damaging	0.53
R7208:Hrc	UTSW	7	45336565	missense	possibly damaging	0.53
R7258:Hrc	UTSW	7	45336296	missense	possibly damaging	0.70
R7456:Hrc	UTSW	7	45336896	missense	possibly damaging	0.83
R7525:Hrc	UTSW	7	45336379	missense	probably benign
R7673:Hrc	UTSW	7	45337234	missense	probably benign	0.00
R7734:Hrc	UTSW	7	45336676	missense	probably benign	0.06
R7927:Hrc	UTSW	7	45336053	missense	possibly damaging	0.53
R7952:Hrc	UTSW	7	45336268	missense	probably damaging	0.98
R8080:Hrc	UTSW	7	45336838	missense	probably damaging	0.96
R8823:Hrc	UTSW	7	45336298	missense	possibly damaging	0.85
R9173:Hrc	UTSW	7	45337375	critical splice donor site	probably null
R9358:Hrc	UTSW	7	45336560	missense	probably benign	0.33
Z1177:Hrc	UTSW	7	45336970	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- AGTTTGGTCACCACATCCACC -3'
(R):5'- TCATCACTGTGGCCTTGGTG -3'

Sequencing Primer
(F):5'- TCCACCGGGGATATCAAGGTG -3'
(R):5'- GACCTGGTGTTCATTATCATCAGAG -3'

Posted On

2019-06-26