Mutagenetix > Incidental Mutation

Incidental Mutation 'R8714:Hemgn'

669754

Institutional Source

Beutler Lab

Gene Symbol

Hemgn

Ensembl Gene

ENSMUSG00000028332

Gene Name

hemogen

Synonyms

4921524M03Rik, EDAG

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8714 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46393989-46413506 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46395904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 444 (G444D)

Ref Sequence

ENSEMBL: ENSMUSP00000066383 (fasta)

Gene Model

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

AlphaFold

Q9ERZ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000071096
AA Change: G444D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: G444D

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

probably damaging
Transcript: ENSMUST00000107764
AA Change: G444D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: G444D

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: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,242,896	A137T	probably benign	Het
4930474N05Rik	T	A	14: 36,096,499	C151*	probably null	Het
Abca4	A	G	3: 122,148,879	T1674A	probably benign	Het
Acat3	A	T	17: 12,928,629	V167E	probably benign	Het
Alb	T	C	5: 90,461,015		probably null	Het
Apol9a	T	C	15: 77,404,742	T142A	probably benign	Het
Asb14	C	T	14: 26,901,075	P135S	possibly damaging	Het
Asb17	A	G	3: 153,850,676	Y140C	probably damaging	Het
Atp4a	T	A	7: 30,720,588	I750N	probably damaging	Het
Bard1	T	C	1: 71,030,827	Y664C	probably damaging	Het
Cacnb3	G	A	15: 98,632,381		probably benign	Het
Card11	T	A	5: 140,913,392	D9V	possibly damaging	Het
Casp8	A	T	1: 58,833,653	Q229H	possibly damaging	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cd209d	CAT	C	8: 3,873,772		probably null	Het
Cep350	T	C	1: 155,860,731	D2853G	probably damaging	Het
Cfap161	T	C	7: 83,793,274	I110M	probably benign	Het
Chid1	T	A	7: 141,513,765	K313*	probably null	Het
Col16a1	T	A	4: 130,054,168	I227N	unknown	Het
D3Ertd751e	G	T	3: 41,746,563	E6*	probably null	Het
Ddx41	T	C	13: 55,534,437	Q208R	probably damaging	Het
Dhrs13	G	C	11: 78,032,666	R70P	possibly damaging	Het
Dmrta1	A	T	4: 89,691,445	Q214L	probably benign	Het
Eif2ak4	T	C	2: 118,462,284	F1330L	possibly damaging	Het
Fbxw13	C	T	9: 109,194,764	V71I	probably benign	Het
Gm8882	G	A	6: 132,364,088	T7I	unknown	Het
H2-Q2	T	C	17: 35,343,362	L195P	possibly damaging	Het
Lmtk2	A	G	5: 144,176,058	T1199A	probably damaging	Het
Ly75	T	C	2: 60,334,485	D783G	probably damaging	Het
Micall1	G	A	15: 79,127,310	A627T	probably benign	Het
Morc2a	C	T	11: 3,675,877	T159I	probably benign	Het
Mthfr	C	A	4: 148,041,818	N115K	probably damaging	Het
Muc1	G	A	3: 89,231,514	V477M	possibly damaging	Het
Mug1	C	T	6: 121,882,722	P1227S	probably benign	Het
Ogfod3	T	A	11: 121,196,782	D163V	possibly damaging	Het
Olfr644	T	A	7: 104,068,276	I252F	probably damaging	Het
Pcnx2	C	T	8: 125,773,807	V1515I	probably benign	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plscr3	G	T	11: 69,848,012	G167C	probably benign	Het
Plxna4	T	A	6: 32,163,444	K1670*	probably null	Het
Rab7	T	C	6: 88,012,387	S34G	probably damaging	Het
Rnf157	C	A	11: 116,347,065	A577S	probably benign	Het
Rnf213	C	T	11: 119,468,894	S4371L		Het
S1pr1	A	T	3: 115,711,821	S375T	probably benign	Het
Spen	T	C	4: 141,488,003	N506S	unknown	Het
Sulf1	T	A	1: 12,807,917	Y210N	probably benign	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tg	A	G	15: 66,684,042	N861S	probably damaging	Het
Ttc29	A	G	8: 78,333,702	E417G	possibly damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Ubxn7	T	A	16: 32,367,411		probably benign	Het
Vmn1r62	C	A	7: 5,675,630	Y103*	probably null	Het
Zfp804b	A	T	5: 6,772,378	Y228*	probably null	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
R8725:Hemgn	UTSW	4	46394638	missense	probably benign	0.03
R8814:Hemgn	UTSW	4	46400717	missense	possibly damaging	0.66
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'- GTGCCAATAGAATGTTGGTTGC -3'
(R):5'- CCTGAATTCATTTCTCACGAGAC -3'

Sequencing Primer
(F):5'- AGAATGTTGGTTGCCTGAAAATAC -3'
(R):5'- CGAGACTTATAAAGAATTCACTGTGC -3'

Posted On

2021-04-30