Mutagenetix > Incidental Mutation

Incidental Mutation 'R6054:Hrg'

484333

Institutional Source

Beutler Lab

Gene Symbol

Hrg

Ensembl Gene

ENSMUSG00000022877

Gene Name

histidine-rich glycoprotein

Synonyms

D18020, D16JH2

MMRRC Submission

044222-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R6054 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22769822-22780406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22772412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 74 (T74S)

Ref Sequence

ENSEMBL: ENSMUSP00000023590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023590] [ENSMUST00000232422]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023590
AA Change: T74S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000023590
Gene: ENSMUSG00000022877
AA Change: T74S

Domain	Start	End	E-Value	Type
CY	22	133	8.98e-4	SMART
CY	146	251	1.3e-2	SMART
low complexity region	347	417	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000232422
AA Change: T74S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display mild monocytosis, decreased bleeding time, faster clot lysis, and abnormal blood coagulation; however, wound healing is normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,653,729 (GRCm39)	S93P	unknown	Het
Adam28	T	A	14: 68,879,601 (GRCm39)	N149I	probably benign	Het
Adam4	A	C	12: 81,466,828 (GRCm39)	F598V	probably damaging	Het
Adh5	A	G	3: 138,151,136 (GRCm39)	H33R	possibly damaging	Het
Apoh	A	G	11: 108,286,801 (GRCm39)	N75S	probably damaging	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atm	T	C	9: 53,371,173 (GRCm39)	D2225G	probably damaging	Het
Atp6v0a1	C	T	11: 100,930,715 (GRCm39)	P514L	possibly damaging	Het
Brd9	T	A	13: 74,088,860 (GRCm39)	M195K	probably damaging	Het
Cacna1a	T	G	8: 85,283,414 (GRCm39)	S755A	probably damaging	Het
Ccdc85c	T	A	12: 108,241,028 (GRCm39)	H122L	unknown	Het
Ccs	A	T	19: 4,875,893 (GRCm39)	D192E	probably benign	Het
Cd3e	G	A	9: 44,913,459 (GRCm39)	T92M	possibly damaging	Het
Celsr2	A	G	3: 108,314,279 (GRCm39)	F1249L	possibly damaging	Het
Col16a1	G	A	4: 129,955,515 (GRCm39)		probably benign	Het
Col17a1	A	G	19: 47,668,859 (GRCm39)	Y122H	probably damaging	Het
Col28a1	G	A	6: 8,083,748 (GRCm39)	P570S	possibly damaging	Het
Dchs2	A	T	3: 83,253,543 (GRCm39)	I2318L	probably benign	Het
Dhx35	T	A	2: 158,660,219 (GRCm39)	Y184N	probably benign	Het
Dmxl1	T	G	18: 49,990,453 (GRCm39)	N297K	probably benign	Het
Dsp	G	A	13: 38,351,585 (GRCm39)	G135S	probably benign	Het
Efhb	C	T	17: 53,706,027 (GRCm39)	V837I	possibly damaging	Het
Efs	C	T	14: 55,158,614 (GRCm39)	D15N	probably damaging	Het
Fbxl19	C	T	7: 127,351,681 (GRCm39)	T314I	probably damaging	Het
Gm11595	A	T	11: 99,663,474 (GRCm39)	C69S	unknown	Het
Grxcr2	A	G	18: 42,119,743 (GRCm39)	V199A	probably benign	Het
Hadha	T	C	5: 30,328,682 (GRCm39)	E468G	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hps1	A	T	19: 42,759,217 (GRCm39)	V125E	probably damaging	Het
Idh3a	T	C	9: 54,493,829 (GRCm39)		probably null	Het
Leng8	C	A	7: 4,148,522 (GRCm39)		probably null	Het
Maml2	TCAGCAGCAGCAGCAGCAGC	TCAGCAGCAGCAGCAGC	9: 13,532,695 (GRCm39)		probably benign	Het
Mctp2	T	C	7: 71,908,851 (GRCm39)	H154R	probably benign	Het
Megf6	A	G	4: 154,347,636 (GRCm39)	E777G	probably benign	Het
Miip	A	G	4: 147,950,135 (GRCm39)	S154P	probably benign	Het
Mprip	T	C	11: 59,649,251 (GRCm39)	V985A	probably benign	Het
Nmrk2	G	A	10: 81,035,468 (GRCm39)	R158W	probably damaging	Het
Nsd2	T	C	5: 34,039,505 (GRCm39)	S180P	probably damaging	Het
Oga	A	G	19: 45,764,571 (GRCm39)	S190P	probably damaging	Het
Opa1	T	G	16: 29,433,952 (GRCm39)	S596A	probably damaging	Het
Or1ad1	G	A	11: 50,875,631 (GRCm39)	M34I	probably benign	Het
Or51b4	A	G	7: 103,531,033 (GRCm39)	V139A	probably damaging	Het
Pcdha2	A	G	18: 37,073,857 (GRCm39)	E496G	probably damaging	Het
Pcdhb5	T	G	18: 37,454,133 (GRCm39)	V171G	probably damaging	Het
Pramel6	A	G	2: 87,339,003 (GRCm39)	T68A	probably benign	Het
Ptprq	T	C	10: 107,418,219 (GRCm39)	Y1719C	probably damaging	Het
Pzp	T	C	6: 128,490,727 (GRCm39)	N412S	probably benign	Het
Rb1cc1	G	T	1: 6,320,058 (GRCm39)	R1159L	probably benign	Het
Rev3l	T	A	10: 39,700,146 (GRCm39)	S1548T	probably benign	Het
Rora	A	G	9: 69,286,084 (GRCm39)	I471M	probably benign	Het
Scube1	C	A	15: 83,535,877 (GRCm39)	V266L	probably benign	Het
Sema6a	C	T	18: 47,416,470 (GRCm39)	D386N	possibly damaging	Het
Siglecf	T	A	7: 43,004,430 (GRCm39)	L253Q	probably damaging	Het
Spata31d1b	A	G	13: 59,863,464 (GRCm39)	H204R	probably benign	Het
Syt17	T	C	7: 118,007,356 (GRCm39)	T313A	possibly damaging	Het
Tbc1d32	T	C	10: 56,038,304 (GRCm39)	T578A	possibly damaging	Het
Trpm1	A	G	7: 63,918,450 (GRCm39)	S597G	probably benign	Het
Vmn2r9	T	A	5: 108,996,126 (GRCm39)	H174L	probably damaging	Het
Vrk2	A	T	11: 26,436,975 (GRCm39)	S281T	probably benign	Het
Wdr48	A	G	9: 119,736,843 (GRCm39)	D22G	probably damaging	Het
Zfp408	C	A	2: 91,479,636 (GRCm39)	V61L	probably benign	Het
Zfp652	G	A	11: 95,640,689 (GRCm39)	A205T	probably benign	Het

Other mutations in Hrg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Hrg	APN	16	22,777,909 (GRCm39)	critical splice acceptor site	probably null
IGL02795:Hrg	APN	16	22,776,303 (GRCm39)	unclassified	probably benign
R0042:Hrg	UTSW	16	22,779,886 (GRCm39)	unclassified	probably benign
R0184:Hrg	UTSW	16	22,772,521 (GRCm39)	critical splice donor site	probably null
R1147:Hrg	UTSW	16	22,779,754 (GRCm39)	missense	probably damaging	0.99
R1147:Hrg	UTSW	16	22,779,754 (GRCm39)	missense	probably damaging	0.99
R1733:Hrg	UTSW	16	22,769,997 (GRCm39)	missense	probably damaging	1.00
R1828:Hrg	UTSW	16	22,774,853 (GRCm39)	missense	probably damaging	1.00
R1919:Hrg	UTSW	16	22,773,207 (GRCm39)	missense	probably damaging	1.00
R2104:Hrg	UTSW	16	22,774,949 (GRCm39)	missense	probably benign	0.09
R2281:Hrg	UTSW	16	22,780,059 (GRCm39)	unclassified	probably benign
R2447:Hrg	UTSW	16	22,779,898 (GRCm39)	unclassified	probably benign
R3962:Hrg	UTSW	16	22,774,825 (GRCm39)	missense	possibly damaging	0.85
R3963:Hrg	UTSW	16	22,774,825 (GRCm39)	missense	possibly damaging	0.85
R4571:Hrg	UTSW	16	22,779,972 (GRCm39)	unclassified	probably benign
R4903:Hrg	UTSW	16	22,779,901 (GRCm39)	unclassified	probably benign
R4904:Hrg	UTSW	16	22,770,000 (GRCm39)	missense	probably benign	0.03
R5236:Hrg	UTSW	16	22,780,263 (GRCm39)	unclassified	probably benign
R6020:Hrg	UTSW	16	22,773,268 (GRCm39)	missense	probably damaging	1.00
R6207:Hrg	UTSW	16	22,773,288 (GRCm39)	critical splice donor site	probably null
R6374:Hrg	UTSW	16	22,779,742 (GRCm39)	missense	probably damaging	0.98
R7516:Hrg	UTSW	16	22,780,048 (GRCm39)	missense	unknown
R7606:Hrg	UTSW	16	22,769,873 (GRCm39)	start codon destroyed	probably null	0.01
R8190:Hrg	UTSW	16	22,779,793 (GRCm39)	missense	unknown
R8349:Hrg	UTSW	16	22,780,286 (GRCm39)	missense	unknown
R8449:Hrg	UTSW	16	22,780,286 (GRCm39)	missense	unknown
R8973:Hrg	UTSW	16	22,777,968 (GRCm39)	missense	probably benign	0.22
R8998:Hrg	UTSW	16	22,772,455 (GRCm39)	missense	probably damaging	0.99
R9334:Hrg	UTSW	16	22,780,061 (GRCm39)	missense	unknown
Z1177:Hrg	UTSW	16	22,772,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGGGAAAGGAAGATATTGCTTTT -3'
(R):5'- GTGGCTCCCGTGAGTGAG -3'

Sequencing Primer
(F):5'- GAGGACCCAGGTTCAATTTCCAG -3'
(R):5'- CGTGAGTGAGCGGACTAGAAG -3'

Posted On

2017-07-14