Mutagenetix > Incidental Mutation

Incidental Mutation 'R8814:Hemgn'

672595

Institutional Source

Beutler Lab

Gene Symbol

Hemgn

Ensembl Gene

ENSMUSG00000028332

Gene Name

hemogen

Synonyms

4921524M03Rik, EDAG

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46393989-46413506 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46400717 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 48 (Q48K)

Ref Sequence

ENSEMBL: ENSMUSP00000066383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071096] [ENSMUST00000107764]

AlphaFold

Q9ERZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071096
AA Change: Q48K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: Q48K

Domain	Start	End	E-Value	Type
low complexity region	66	81	N/A	INTRINSIC
internal_repeat_1	160	256	4.18e-7	PROSPERO
low complexity region	314	326	N/A	INTRINSIC
internal_repeat_1	346	436	4.18e-7	PROSPERO
low complexity region	444	455	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107764
AA Change: Q48K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: Q48K

Domain	Start	End	E-Value	Type
low complexity region	66	81	N/A	INTRINSIC
internal_repeat_1	160	256	4.18e-7	PROSPERO
low complexity region	314	326	N/A	INTRINSIC
internal_repeat_1	346	436	4.18e-7	PROSPERO
low complexity region	444	455	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	C	6: 129,325,604		probably benign	Het
Brd7	A	G	8: 88,345,154	V361A	probably benign	Het
C6	A	T	15: 4,792,784	Q595L	probably benign	Het
Cacna2d3	T	A	14: 29,097,815	Y532F	probably damaging	Het
Cep85l	A	T	10: 53,348,969	Y175N	probably benign	Het
Clca3a2	G	T	3: 144,797,764	N808K	probably benign	Het
Cpsf4	T	G	5: 145,178,868	S201R	probably benign	Het
Crispld2	A	G	8: 120,015,345	H144R	possibly damaging	Het
Cyp1b1	T	C	17: 79,713,359	E318G	probably benign	Het
Fam109a	G	T	5: 121,853,045	V157L	probably benign	Het
Fer1l4	A	G	2: 156,052,243	F47L	probably benign	Het
Flnb	A	G	14: 7,927,409	D1873G	probably damaging	Het
Gm47995	A	G	1: 151,198,988	M181V	probably benign	Het
Hace1	A	G	10: 45,652,701	Y346C	probably damaging	Het
Hhip	T	C	8: 80,051,472	D143G	probably damaging	Het
Ift74	C	T	4: 94,662,636	Q342*	probably null	Het
Kng2	A	T	16: 23,004,011	I197N	probably benign	Het
Lcat	G	A	8: 105,941,970	P167S	probably damaging	Het
Lmntd2	G	A	7: 141,210,084	R672W	probably damaging	Het
Mroh2b	G	T	15: 4,941,625	L1037F	possibly damaging	Het
Msh4	A	G	3: 153,872,320	S640P	probably damaging	Het
Mterf1b	T	C	5: 4,197,456	S366P	probably damaging	Het
Nrxn1	A	T	17: 90,630,101	C643S	probably damaging	Het
Olfr1164	T	A	2: 88,092,971	I322F	probably benign	Het
Olfr1496	T	A	19: 13,781,533	I305N	possibly damaging	Het
Olfr485	T	A	7: 108,159,065	K269N	probably benign	Het
Olfr605	A	G	7: 103,442,913	V70A	probably benign	Het
Olfr709-ps1	T	A	7: 106,926,818	I214F	probably damaging	Het
Pask	C	A	1: 93,320,585	R998L	probably benign	Het
Pcdh8	A	G	14: 79,768,897	L742P	probably benign	Het
Psma3	A	G	12: 70,978,806	E32G	probably benign	Het
Samd11	T	C	4: 156,247,884	E500G	probably benign	Het
Scarb1	A	T	5: 125,294,092	D305E	probably benign	Het
Serpinb6b	A	G	13: 32,978,304	H362R	possibly damaging	Het
Siglec1	G	A	2: 131,072,744	T1484M	probably damaging	Het
Slfn8	A	G	11: 83,016,679	V346A	possibly damaging	Het
Slitrk6	G	C	14: 110,749,938	A779G	probably benign	Het
Soga1	C	T	2: 157,030,531	W965*	probably null	Het
Sub1	A	C	15: 11,984,231	V124G	probably damaging	Het
Tbc1d32	A	G	10: 56,196,592	I277T	possibly damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trappc10	A	G	10: 78,202,919	Y780H	probably damaging	Het
Trim28	T	A	7: 13,028,527	N359K	probably damaging	Het
Tspan15	G	A	10: 62,188,056	T281M	probably benign	Het
Uaca	A	G	9: 60,866,398	N396D	possibly damaging	Het
Vmn1r84	A	G	7: 12,362,458	S103P	probably damaging	Het
Vmn2r22	C	G	6: 123,637,830	R267T	probably damaging	Het
Vmn2r7	A	G	3: 64,716,563	I112T	probably benign	Het
Vmn2r70	T	A	7: 85,565,961	I122F	probably benign	Het
Vmn2r79	C	G	7: 87,002,506	T371S	probably benign	Het
Vps8	T	C	16: 21,576,650	L1230P	probably damaging	Het
Zfp26	A	T	9: 20,438,434	V278D	probably benign	Het

Other mutations in Hemgn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Hemgn	APN	4	46396240	missense	probably benign
IGL00846:Hemgn	APN	4	46396171	missense	possibly damaging	0.91
IGL00930:Hemgn	APN	4	46396383	nonsense	probably null
IGL01875:Hemgn	APN	4	46396994	missense	possibly damaging	0.65
IGL01937:Hemgn	APN	4	46396057	missense	probably damaging	1.00
IGL02217:Hemgn	APN	4	46396420	missense	probably damaging	0.98
IGL02325:Hemgn	APN	4	46396085	missense	probably benign	0.05
IGL02746:Hemgn	APN	4	46400740	missense	probably damaging	0.99
IGL03093:Hemgn	APN	4	46396504	missense	probably benign	0.26
IGL03240:Hemgn	APN	4	46400732	nonsense	probably null
PIT4504001:Hemgn	UTSW	4	46395863	missense	probably benign
R0925:Hemgn	UTSW	4	46397049	missense	probably damaging	0.98
R1413:Hemgn	UTSW	4	46396091	missense	possibly damaging	0.94
R1795:Hemgn	UTSW	4	46395958	missense	probably damaging	0.97
R1844:Hemgn	UTSW	4	46396655	missense	possibly damaging	0.85
R2152:Hemgn	UTSW	4	46396607	nonsense	probably null
R2169:Hemgn	UTSW	4	46396417	missense	possibly damaging	0.92
R2207:Hemgn	UTSW	4	46396301	missense	possibly damaging	0.66
R3742:Hemgn	UTSW	4	46396421	missense	possibly damaging	0.94
R4515:Hemgn	UTSW	4	46396477	missense	probably damaging	0.98
R5310:Hemgn	UTSW	4	46403927	missense	possibly damaging	0.77
R5445:Hemgn	UTSW	4	46400738	missense	probably benign	0.09
R5456:Hemgn	UTSW	4	46396571	missense	probably damaging	0.99
R6520:Hemgn	UTSW	4	46396466	missense	probably damaging	0.98
R6575:Hemgn	UTSW	4	46395990	missense	possibly damaging	0.46
R6983:Hemgn	UTSW	4	46395997	missense	possibly damaging	0.92
R7204:Hemgn	UTSW	4	46397054	missense	possibly damaging	0.94
R7443:Hemgn	UTSW	4	46396145	missense	probably damaging	0.96
R7567:Hemgn	UTSW	4	46397034	missense	probably damaging	0.96
R7623:Hemgn	UTSW	4	46396504	missense	probably benign	0.07
R8181:Hemgn	UTSW	4	46396504	missense	possibly damaging	0.52
R8353:Hemgn	UTSW	4	46403935	missense	possibly damaging	0.92
R8714:Hemgn	UTSW	4	46395904	missense	probably damaging	1.00
R8725:Hemgn	UTSW	4	46394638	missense	probably benign	0.03
R8865:Hemgn	UTSW	4	46396682	missense	possibly damaging	0.90
R9164:Hemgn	UTSW	4	46396106	missense	probably benign	0.03
R9335:Hemgn	UTSW	4	46394647	missense	probably benign	0.09
Z1177:Hemgn	UTSW	4	46400693	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACCCACTGGATTCTGCATTAG -3'
(R):5'- CCCAGGATAGGGTTTCTAAAATTC -3'

Sequencing Primer
(F):5'- TTCTGCATTAGAAGCAAACACAC -3'
(R):5'- ACCGGACATTCATATGGTGC -3'

Posted On

2021-04-30