Mutagenetix > Incidental Mutation

Incidental Mutation 'R2148:Hamp'

234010

Institutional Source

Beutler Lab

Gene Symbol

Hamp

Ensembl Gene

ENSMUSG00000050440

Gene Name

hepcidin antimicrobial peptide

Synonyms

Hepc, HEPC1

MMRRC Submission

040151-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.034) question?

Stock #

R2148 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30641793-30643454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30642137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 34 (T34A)

Ref Sequence

ENSEMBL: ENSMUSP00000055404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058860] [ENSMUST00000062620] [ENSMUST00000108119] [ENSMUST00000162228] [ENSMUST00000170699] [ENSMUST00000172417]

AlphaFold

Q9EQ21

Predicted Effect

probably benign
Transcript: ENSMUST00000058860

SMART Domains

Protein: ENSMUSP00000132256
Gene: ENSMUSG00000058239

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC
HLH	241	296	1.36e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062620
AA Change: T34A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055404
Gene: ENSMUSG00000050440
AA Change: T34A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Hepcidin	32	83	3.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108119

SMART Domains

Protein: ENSMUSP00000132021
Gene: ENSMUSG00000058239

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
HLH	174	229	1.36e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162228

SMART Domains

Protein: ENSMUSP00000125520
Gene: ENSMUSG00000058239

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC
HLH	214	269	1.36e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206970

Predicted Effect

probably benign
Transcript: ENSMUST00000170442

SMART Domains

Protein: ENSMUSP00000130298
Gene: ENSMUSG00000058239

Domain	Start	End	E-Value	Type
low complexity region	41	65	N/A	INTRINSIC
HLH	196	243	1.83e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170699

Predicted Effect

probably benign
Transcript: ENSMUST00000172417

SMART Domains

Protein: ENSMUSP00000132833
Gene: ENSMUSG00000058239

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
HLH	110	165	1.36e-16	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes hepcidin, an antimicrobial peptide and master hormonal regulator of systemic iron metabolism. The encoded preproprotein is synthesized in the hepatocytes where it undergoes proteolytic processing to generate disulfide-linked mature peptides that are secreted into the bloodstream. Mice lacking the encoded protein develop multivisceral iron overlaod, with sparing of the spleen macrophages. Certain mutations in the human ortholog of this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis. This gene is located adjacent to a related hepcidin gene on chromosome 7. [provided by RefSeq, Aug 2016]
PHENOTYPE: Null mutations in this gene result in abnormal iron homeostasis, with massive iron accumulation observed in the liver, pancreas, and heart of mice. Serum iron content is also elevated, while splenic iron content is significantly decreased compared to wild type. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Abca13	A	G	11: 9,565,764 (GRCm39)	Y4796C	probably damaging	Het
Actn2	A	T	13: 12,315,835 (GRCm39)	M228K	probably damaging	Het
Agbl1	T	G	7: 76,064,465 (GRCm39)		probably null	Het
Ahi1	T	G	10: 20,846,875 (GRCm39)	V435G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap6	A	G	X: 167,579,496 (GRCm39)	T94A	probably benign	Het
Atg4c	C	A	4: 99,109,463 (GRCm39)	N143K	possibly damaging	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
Bop1	A	G	15: 76,339,487 (GRCm39)	V286A	probably damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cacna1a	A	T	8: 85,356,304 (GRCm39)	Q1887L	possibly damaging	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Cnot2	A	G	10: 116,342,185 (GRCm39)	I173T	probably benign	Het
Cntnap5b	T	A	1: 100,311,199 (GRCm39)	I564N	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 88,449,883 (GRCm39)	D82G	possibly damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dgkd	T	G	1: 87,809,643 (GRCm39)	N110K	probably damaging	Het
Dhx8	A	T	11: 101,629,203 (GRCm39)	R198*	probably null	Het
Dnah8	A	T	17: 30,956,232 (GRCm39)	I2071F	probably damaging	Het
Dsc3	C	T	18: 20,098,695 (GRCm39)	R828Q	probably damaging	Het
Fbxl4	T	C	4: 22,427,333 (GRCm39)	F525L	possibly damaging	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gpatch1	A	G	7: 34,998,701 (GRCm39)	V343A	probably benign	Het
Gpr139	A	G	7: 118,744,192 (GRCm39)	V131A	probably benign	Het
Homer2	T	G	7: 81,274,043 (GRCm39)	D51A	possibly damaging	Het
Hspa1l	C	T	17: 35,196,366 (GRCm39)	A135V	probably damaging	Het
Igsf10	A	G	3: 59,243,998 (GRCm39)	M112T	possibly damaging	Het
Ikbkb	A	T	8: 23,172,761 (GRCm39)	L153Q	probably damaging	Het
Kif19a	A	T	11: 114,671,594 (GRCm39)	I158F	probably damaging	Het
L1cam	A	T	X: 72,904,747 (GRCm39)	F536Y	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lhx1	A	T	11: 84,410,647 (GRCm39)	S226T	probably benign	Het
Llcfc1	G	A	6: 41,662,155 (GRCm39)	G53D	possibly damaging	Het
Loxl4	A	G	19: 42,592,631 (GRCm39)		probably null	Het
Magee1	A	T	X: 104,166,564 (GRCm39)	D783V	probably damaging	Het
Mak	T	C	13: 41,195,513 (GRCm39)	K400R	probably benign	Het
Mgat4c	T	C	10: 102,224,790 (GRCm39)	F335L	probably benign	Het
Mgat4f	T	A	1: 134,318,251 (GRCm39)	M341K	probably damaging	Het
Mospd2	A	G	X: 163,739,473 (GRCm39)		probably null	Het
Mtor	T	C	4: 148,540,469 (GRCm39)	F245L	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo5a	T	A	9: 75,087,429 (GRCm39)	L1095H	probably damaging	Het
Nlrp1a	T	A	11: 71,013,733 (GRCm39)	K506*	probably null	Het
Or5d18	C	A	2: 87,864,943 (GRCm39)	C180F	probably damaging	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Phkb	A	G	8: 86,744,115 (GRCm39)	D588G	probably damaging	Het
Pkd1l2	A	T	8: 117,783,064 (GRCm39)	I752N	probably damaging	Het
Pkhd1	C	A	1: 20,484,444 (GRCm39)		probably null	Het
Plod3	C	T	5: 137,016,627 (GRCm39)	R30*	probably null	Het
Ppfia4	T	C	1: 134,240,372 (GRCm39)	I591V	probably benign	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Ptgs2	G	T	1: 149,981,465 (GRCm39)	A583S	probably benign	Het
Pycr2	T	C	1: 180,734,413 (GRCm39)	V231A	probably damaging	Het
Ralgapa2	T	C	2: 146,273,807 (GRCm39)	D540G	probably benign	Het
Rasal1	T	A	5: 120,800,096 (GRCm39)	I150N	probably damaging	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Sacs	T	C	14: 61,410,827 (GRCm39)	L34P	probably damaging	Het
Sema3d	A	G	5: 12,534,926 (GRCm39)	Y106C	probably damaging	Het
Serpinb8	T	A	1: 107,533,657 (GRCm39)	D237E	probably benign	Het
Slc19a2	T	C	1: 164,089,657 (GRCm39)	W158R	probably damaging	Het
Sorbs1	A	T	19: 40,365,268 (GRCm39)	F172I	possibly damaging	Het
Spaca7	A	T	8: 12,636,447 (GRCm39)	D91V	probably damaging	Het
Tead3	A	G	17: 28,552,638 (GRCm39)	F187L	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tmem132c	T	A	5: 127,540,026 (GRCm39)	W351R	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Trap1	T	C	16: 3,878,624 (GRCm39)	D236G	probably damaging	Het
Trim45	T	A	3: 100,839,360 (GRCm39)	L754*	probably null	Het
Tubgcp5	A	G	7: 55,449,259 (GRCm39)	E152G	probably damaging	Het
Uaca	A	T	9: 60,776,961 (GRCm39)	L447F	probably damaging	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Wdr11	A	G	7: 129,230,807 (GRCm39)		probably null	Het
Zfp462	T	A	4: 55,013,670 (GRCm39)	S1879T	probably benign	Het
Zfr2	T	G	10: 81,077,950 (GRCm39)	V259G	probably benign	Het

Other mutations in Hamp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02435:Hamp	APN	7	30,643,324 (GRCm39)	missense	probably benign	0.25
R4763:Hamp	UTSW	7	30,641,989 (GRCm39)	missense	probably damaging	0.97
R6325:Hamp	UTSW	7	30,643,328 (GRCm39)	missense	probably benign
R7157:Hamp	UTSW	7	30,641,961 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CCACACTGGGAATTGTTACAGC -3'
(R):5'- ACTGTCCGGAGTGTGCAAAAG -3'

Sequencing Primer
(F):5'- GGGAATTGTTACAGCATTTACAGCAG -3'
(R):5'- GCAAAGAAAGTGGGTGCTTTTAG -3'

Posted On

2014-10-01