Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4504001:Hemgn'

556002

Institutional Source

Beutler Lab

Gene Symbol

Hemgn

Ensembl Gene

ENSMUSG00000028332

Gene Name

hemogen

Synonyms

4921524M03Rik, EDAG

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4504001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46393989-46404183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46395863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 458 (N458D)

Ref Sequence

ENSEMBL: ENSMUSP00000066383 (fasta)

Gene Model

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

AlphaFold

Q9ERZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000071096
AA Change: N458D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066383
Gene: ENSMUSG00000028332
AA Change: N458D

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: N458D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103393
Gene: ENSMUSG00000028332
AA Change: N458D

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: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,547,537 (GRCm39)	C970*	probably null	Het
Adgrv1	G	A	13: 81,707,471 (GRCm39)	P1312S	probably damaging	Het
Arid5a	T	C	1: 36,356,706 (GRCm39)	I116T	probably damaging	Het
Bank1	C	A	3: 135,806,180 (GRCm39)	D485Y	probably damaging	Het
Cbln3	C	T	14: 56,120,956 (GRCm39)	V122M	probably damaging	Het
Cox10	C	T	11: 63,855,042 (GRCm39)	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,948,823 (GRCm39)	D44V	probably benign	Het
Cuzd1	A	T	7: 130,911,529 (GRCm39)	N483K	possibly damaging	Het
Dcaf4	G	A	12: 83,580,785 (GRCm39)		probably null	Het
Ddx60	A	G	8: 62,411,147 (GRCm39)	T470A	probably benign	Het
Dennd1b	T	C	1: 138,967,742 (GRCm39)	V44A	probably benign	Het
Dusp16	C	A	6: 134,716,846 (GRCm39)	V154F	possibly damaging	Het
Ect2	G	A	3: 27,181,097 (GRCm39)	R586*	probably null	Het
Ermard	T	A	17: 15,279,084 (GRCm39)	C460*	probably null	Het
Fat2	C	T	11: 55,146,936 (GRCm39)	G4020D	possibly damaging	Het
Flacc1	T	A	1: 58,698,258 (GRCm39)	I348F	probably benign	Het
Galnt16	G	T	12: 80,639,191 (GRCm39)	E402*	probably null	Het
Gm5414	T	G	15: 101,534,258 (GRCm39)	D282A	probably damaging	Het
Gm6741	C	T	17: 91,544,344 (GRCm39)	Q36*	probably null	Het
Gm7356	A	T	17: 14,221,720 (GRCm39)	L103Q	probably damaging	Het
Hcn1	A	G	13: 118,112,411 (GRCm39)	T792A	possibly damaging	Het
Hesx1	C	A	14: 26,723,838 (GRCm39)	D140E	probably benign	Het
Hjv	A	T	3: 96,435,813 (GRCm39)	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,799,605 (GRCm39)	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469 (GRCm39)	T249A	possibly damaging	Het
Il33	A	T	19: 29,930,139 (GRCm39)	H78L	probably benign	Het
Inpp4b	A	T	8: 82,768,564 (GRCm39)	D691V	probably damaging	Het
Itpr2	T	A	6: 146,131,369 (GRCm39)	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,799,289 (GRCm39)	V122A	probably benign	Het
Lrp2	T	C	2: 69,305,747 (GRCm39)	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,756,403 (GRCm39)	Y726F	probably benign	Het
Magi3	G	T	3: 103,922,842 (GRCm39)	Q1292K	probably benign	Het
Mllt3	A	C	4: 87,692,324 (GRCm39)	F546L	probably damaging	Het
Mrpl14	A	G	17: 46,009,147 (GRCm39)	K82R	probably benign	Het
Noxred1	A	G	12: 87,271,653 (GRCm39)	V172A	possibly damaging	Het
Obscn	A	T	11: 59,023,948 (GRCm39)	I574N	probably damaging	Het
Or2n1b	A	G	17: 38,460,060 (GRCm39)	T194A	probably benign	Het
Or5k8	T	A	16: 58,644,671 (GRCm39)	T134S	probably benign	Het
Osbpl11	T	A	16: 33,054,864 (GRCm39)	V649D	probably benign	Het
Pdlim2	G	T	14: 70,403,579 (GRCm39)	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152 (GRCm39)	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,948,388 (GRCm39)	R223L	probably damaging	Het
Pole2	A	T	12: 69,256,759 (GRCm39)	Y255*	probably null	Het
Rims1	T	A	1: 22,467,684 (GRCm39)	I317L		Het
Scnn1g	C	A	7: 121,341,554 (GRCm39)	H239N	probably benign	Het
Spag17	A	G	3: 100,010,426 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,746,692 (GRCm39)	F1038I	probably damaging	Het
Tshz2	T	C	2: 169,727,971 (GRCm39)	F856L	probably damaging	Het
Ubtf	A	G	11: 102,197,508 (GRCm39)	S715P	unknown	Het
Usp13	A	C	3: 32,959,579 (GRCm39)	S557R	probably damaging	Het
Usp19	T	A	9: 108,370,169 (GRCm39)	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,623,397 (GRCm39)	Y308N	probably benign	Het
Zfp455	A	G	13: 67,346,685 (GRCm39)	D32G	probably damaging	Het
Zfp512	T	A	5: 31,634,225 (GRCm39)		probably null	Het
Zfr	A	G	15: 12,166,244 (GRCm39)	E838G	possibly damaging	Het

Other mutations in Hemgn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Hemgn	APN	4	46,396,240 (GRCm39)	missense	probably benign
IGL00846:Hemgn	APN	4	46,396,171 (GRCm39)	missense	possibly damaging	0.91
IGL00930:Hemgn	APN	4	46,396,383 (GRCm39)	nonsense	probably null
IGL01875:Hemgn	APN	4	46,396,994 (GRCm39)	missense	possibly damaging	0.65
IGL01937:Hemgn	APN	4	46,396,057 (GRCm39)	missense	probably damaging	1.00
IGL02217:Hemgn	APN	4	46,396,420 (GRCm39)	missense	probably damaging	0.98
IGL02325:Hemgn	APN	4	46,396,085 (GRCm39)	missense	probably benign	0.05
IGL02746:Hemgn	APN	4	46,400,740 (GRCm39)	missense	probably damaging	0.99
IGL03093:Hemgn	APN	4	46,396,504 (GRCm39)	missense	probably benign	0.26
IGL03240:Hemgn	APN	4	46,400,732 (GRCm39)	nonsense	probably null
R0925:Hemgn	UTSW	4	46,397,049 (GRCm39)	missense	probably damaging	0.98
R1413:Hemgn	UTSW	4	46,396,091 (GRCm39)	missense	possibly damaging	0.94
R1795:Hemgn	UTSW	4	46,395,958 (GRCm39)	missense	probably damaging	0.97
R1844:Hemgn	UTSW	4	46,396,655 (GRCm39)	missense	possibly damaging	0.85
R2152:Hemgn	UTSW	4	46,396,607 (GRCm39)	nonsense	probably null
R2169:Hemgn	UTSW	4	46,396,417 (GRCm39)	missense	possibly damaging	0.92
R2207:Hemgn	UTSW	4	46,396,301 (GRCm39)	missense	possibly damaging	0.66
R3742:Hemgn	UTSW	4	46,396,421 (GRCm39)	missense	possibly damaging	0.94
R4515:Hemgn	UTSW	4	46,396,477 (GRCm39)	missense	probably damaging	0.98
R5310:Hemgn	UTSW	4	46,403,927 (GRCm39)	missense	possibly damaging	0.77
R5445:Hemgn	UTSW	4	46,400,738 (GRCm39)	missense	probably benign	0.09
R5456:Hemgn	UTSW	4	46,396,571 (GRCm39)	missense	probably damaging	0.99
R6520:Hemgn	UTSW	4	46,396,466 (GRCm39)	missense	probably damaging	0.98
R6575:Hemgn	UTSW	4	46,395,990 (GRCm39)	missense	possibly damaging	0.46
R6983:Hemgn	UTSW	4	46,395,997 (GRCm39)	missense	possibly damaging	0.92
R7204:Hemgn	UTSW	4	46,397,054 (GRCm39)	missense	possibly damaging	0.94
R7443:Hemgn	UTSW	4	46,396,145 (GRCm39)	missense	probably damaging	0.96
R7567:Hemgn	UTSW	4	46,397,034 (GRCm39)	missense	probably damaging	0.96
R7623:Hemgn	UTSW	4	46,396,504 (GRCm39)	missense	probably benign	0.07
R8181:Hemgn	UTSW	4	46,396,504 (GRCm39)	missense	possibly damaging	0.52
R8353:Hemgn	UTSW	4	46,403,935 (GRCm39)	missense	possibly damaging	0.92
R8714:Hemgn	UTSW	4	46,395,904 (GRCm39)	missense	probably damaging	1.00
R8725:Hemgn	UTSW	4	46,394,638 (GRCm39)	missense	probably benign	0.03
R8814:Hemgn	UTSW	4	46,400,717 (GRCm39)	missense	possibly damaging	0.66
R8865:Hemgn	UTSW	4	46,396,682 (GRCm39)	missense	possibly damaging	0.90
R9164:Hemgn	UTSW	4	46,396,106 (GRCm39)	missense	probably benign	0.03
R9335:Hemgn	UTSW	4	46,394,647 (GRCm39)	missense	probably benign	0.09
Z1177:Hemgn	UTSW	4	46,400,693 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGCACATAATTAACCCTATTCCAGG -3'
(R):5'- CCTGGGCCTGAGAACTATTC -3'

Sequencing Primer
(F):5'- AATTAACCCTATTCCAGGTTTGTTTC -3'
(R):5'- GGCCTGAGAACTATTCACTGG -3'

Posted On

2019-06-07