Mutagenetix > Incidental Mutation

Incidental Mutation 'R5445:Hemgn'

427389

Institutional Source

Beutler Lab

Gene Symbol

Hemgn

Ensembl Gene

ENSMUSG00000028332

Gene Name

hemogen

Synonyms

4921524M03Rik, EDAG

MMRRC Submission

043010-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5445 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46393989-46413506 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46400738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 41 (R41G)

Ref Sequence

ENSEMBL: ENSMUSP00000103393 (fasta)

Gene Model

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

AlphaFold

Q9ERZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000071096
AA Change: R41G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: R41G

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 benign
Transcript: ENSMUST00000107764
AA Change: R41G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: R41G

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,759,586	D259G	probably damaging	Het
Abcg5	A	T	17: 84,671,129	D300E	probably damaging	Het
Apbb1ip	T	C	2: 22,835,948	V244A	possibly damaging	Het
Arhgap32	T	C	9: 32,248,382	S232P	probably benign	Het
Atf7ip	G	A	6: 136,587,257	V833M	probably damaging	Het
Casp7	A	G	19: 56,433,338		probably null	Het
Celsr2	T	A	3: 108,392,658	E2911D	probably benign	Het
Cep350	T	C	1: 155,894,723	D1807G	probably benign	Het
Chrd	A	G	16: 20,738,910	T753A	possibly damaging	Het
Clasp2	A	G	9: 113,903,946	D971G	probably damaging	Het
Cnnm2	A	G	19: 46,877,288	T772A	possibly damaging	Het
Cntn1	A	T	15: 92,295,077	N687Y	probably damaging	Het
Col6a3	G	A	1: 90,782,039	R1812*	probably null	Het
Dsc2	T	C	18: 20,035,303	I700V	possibly damaging	Het
Fam71d	G	A	12: 78,715,116	E185K	probably damaging	Het
Flt3	G	A	5: 147,355,095	Q540*	probably null	Het
Fmo4	T	A	1: 162,805,273	I170F	probably benign	Het
Fra10ac1	T	A	19: 38,219,462	D72V	possibly damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Gm13023	T	A	4: 143,795,137	V441E	possibly damaging	Het
Gm2381	T	G	7: 42,820,001	H233P	probably damaging	Het
Gm5148	T	A	3: 37,714,846	Q75L	probably damaging	Het
Gm8369	T	C	19: 11,504,806	V27A	possibly damaging	Het
Gpr157	T	C	4: 150,102,368	S318P	probably benign	Het
Hectd4	G	A	5: 121,266,274	V405M	probably benign	Het
Hhipl1	T	A	12: 108,328,208	L791Q	probably damaging	Het
Hjurp	T	G	1: 88,266,316	K290T	probably benign	Het
Ifi207	T	C	1: 173,727,797	E773G	probably damaging	Het
Kcnh6	T	C	11: 106,023,859	Y697H	probably damaging	Het
Lonrf2	T	C	1: 38,807,153	T313A	probably benign	Het
Lrba	G	T	3: 86,368,595	V1757L	probably benign	Het
Lrrc24	T	C	15: 76,716,106	T278A	probably benign	Het
Ltbp2	T	C	12: 84,809,654	I679V	probably null	Het
Mapk4	G	T	18: 73,931,002	T383K	probably benign	Het
Mdn1	C	T	4: 32,723,690	P2542L	probably damaging	Het
Mia3	A	G	1: 183,336,022	V208A	probably benign	Het
Myo15	C	A	11: 60,520,777	C3234*	probably null	Het
Nlrp1b	G	T	11: 71,217,875	Q267K	probably benign	Het
Nphp3	A	G	9: 104,004,723	K37E	probably damaging	Het
Nwd2	T	C	5: 63,805,338	M755T	probably damaging	Het
Olfr482	A	G	7: 108,094,742	V276A	possibly damaging	Het
Olfr655	A	G	7: 104,596,821	F120S	probably damaging	Het
Olfr819	T	A	10: 129,966,289	H137L	probably benign	Het
Pdlim5	C	T	3: 142,352,734	R83K	probably null	Het
Plekha5	A	T	6: 140,552,733	R173*	probably null	Het
Rbms3	T	A	9: 117,251,785	D6V	possibly damaging	Het
Rhoq	A	T	17: 86,964,327	Y57F	probably benign	Het
Rrm1	A	T	7: 102,451,023	T204S	possibly damaging	Het
Slf1	A	T	13: 77,091,204	I447N	probably benign	Het
Smarcc2	T	A	10: 128,488,074		probably benign	Het
Spdye4c	C	T	2: 128,596,564	Q281*	probably null	Het
Tert	T	A	13: 73,644,284	M890K	probably benign	Het
Tln1	C	A	4: 43,543,905	R1198L	probably benign	Het
Tmco4	A	G	4: 139,020,867	M253V	probably damaging	Het
Usp19	G	T	9: 108,497,920	V782F	possibly damaging	Het
Usp33	T	A	3: 152,374,623	S464T	probably damaging	Het
Usp47	A	T	7: 112,074,721	Y397F	probably damaging	Het
Vmn1r12	A	G	6: 57,159,481	T144A	probably benign	Het
Vmn2r90	A	T	17: 17,734,124	H850L	probably benign	Het
Wdr66	C	T	5: 123,287,177	T294M	probably damaging	Het
Zfhx3	A	T	8: 108,956,210	Q3427L	unknown	Het
Zfp236	G	T	18: 82,682,156	Q63K	probably benign	Het
Zfp7	T	A	15: 76,890,854	C365*	probably null	Het
Zfp786	T	C	6: 47,819,685	E773G	probably damaging	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
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
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'- CAACCCACTGGATTCTGCATTAG -3'
(R):5'- CCAGGATAGGGTTTCTAAAATTCTG -3'

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

Posted On

2016-09-01