Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00498:Hcfc1r1'

5770

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hcfc1r1

Ensembl Gene

ENSMUSG00000023904

Gene Name

host cell factor C1 regulator 1 (XPO1-dependent)

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

IGL00498

Quality Score

Status

Chromosome

Chromosomal Location

23892570-23894201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23892982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 9 (R9Q)

Ref Sequence

ENSEMBL: ENSMUSP00000137336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024697] [ENSMUST00000024698] [ENSMUST00000047436] [ENSMUST00000095579] [ENSMUST00000115489] [ENSMUST00000115490] [ENSMUST00000180140] [ENSMUST00000179928] [ENSMUST00000138190] [ENSMUST00000167059]

AlphaFold

Q9CYQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024697
AA Change: R9Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024697
Gene: ENSMUSG00000023904
AA Change: R9Q

Domain	Start	End	E-Value	Type
Pfam:HPIP	2	116	7e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000024698

SMART Domains

Protein: ENSMUSP00000024698
Gene: ENSMUSG00000023905

Domain	Start	End	E-Value	Type
Pfam:stn_TNFRSF12A	1	129	4.7e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047436

SMART Domains

Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	2e-18	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	1e-11	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	2e-25	BLAST
WD40	248	284	7.36e1	SMART
low complexity region	294	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095579

SMART Domains

Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	2e-18	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	1e-11	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	2e-25	BLAST
WD40	248	284	7.36e1	SMART
low complexity region	294	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115489

SMART Domains

Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	11	47	6e-18	BLAST
WD40	61	97	2.67e-1	SMART
Blast:WD40	115	150	8e-12	BLAST
WD40	153	192	1.28e-6	SMART
Blast:WD40	196	241	3e-25	BLAST
WD40	244	280	7.36e1	SMART
low complexity region	290	301	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115490

SMART Domains

Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	7e-19	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	6e-12	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	8e-26	BLAST
Blast:WD40	248	279	4e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125443

Predicted Effect

probably damaging
Transcript: ENSMUST00000180140
AA Change: R9Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137336
Gene: ENSMUSG00000023904
AA Change: R9Q

Domain	Start	End	E-Value	Type
Pfam:HPIP	2	116	2.9e-58	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179928
AA Change: R9Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137205
Gene: ENSMUSG00000023904
AA Change: R9Q

Domain	Start	End	E-Value	Type
Pfam:HPIP	2	112	3.3e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133849

Predicted Effect

probably benign
Transcript: ENSMUST00000138190

SMART Domains

Protein: ENSMUSP00000123075
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	6e-20	BLAST
WD40	65	101	2.67e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167059

SMART Domains

Protein: ENSMUSP00000131574
Gene: ENSMUSG00000023905

Domain	Start	End	E-Value	Type
Pfam:stn_TNFRSF12A	1	35	2.9e-13	PFAM
Pfam:stn_TNFRSF12A	32	94	1.1e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135259

SMART Domains

Protein: ENSMUSP00000119920
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	32	67	9e-13	BLAST
WD40	70	109	1.28e-6	SMART
Blast:WD40	113	186	4e-20	BLAST
Blast:WD40	189	209	2e-6	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	A	2: 68,432,242 (GRCm39)	G128R	unknown	Het
Acsm5	T	C	7: 119,141,661 (GRCm39)		probably null	Het
Atad2	A	C	15: 57,980,216 (GRCm39)	F423V	probably damaging	Het
Carmil3	T	A	14: 55,739,352 (GRCm39)		probably null	Het
Cdc42bpa	A	C	1: 179,933,686 (GRCm39)	E775A	probably damaging	Het
Cfdp1	T	C	8: 112,567,110 (GRCm39)	E133G	probably benign	Het
Chst3	A	G	10: 60,021,441 (GRCm39)	F469L	possibly damaging	Het
Dbx1	T	C	7: 49,286,222 (GRCm39)	D81G	probably benign	Het
Dmp1	A	G	5: 104,358,021 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,896,150 (GRCm39)	T855A	probably benign	Het
Fbxw2	C	T	2: 34,695,953 (GRCm39)	A250T	probably damaging	Het
Fcgbp	T	C	7: 27,791,222 (GRCm39)	C828R	probably damaging	Het
Gmfg	G	T	7: 28,145,810 (GRCm39)	R83L	possibly damaging	Het
Gpr37l1	A	G	1: 135,089,440 (GRCm39)		probably benign	Het
Hsd17b1	A	T	11: 100,970,884 (GRCm39)	H280L	possibly damaging	Het
Hsd17b12	A	C	2: 93,913,510 (GRCm39)		probably null	Het
Itga1	A	G	13: 115,167,729 (GRCm39)	V99A	probably benign	Het
Kcnn1	A	G	8: 71,305,524 (GRCm39)	S229P	probably damaging	Het
Klhdc8a	A	G	1: 132,230,756 (GRCm39)	N207S	probably benign	Het
Lrrtm4	T	C	6: 79,999,529 (GRCm39)	W314R	probably damaging	Het
Malrd1	T	C	2: 16,146,997 (GRCm39)		probably benign	Het
Marcks	T	C	10: 37,014,513 (GRCm39)	K7E	probably damaging	Het
Mov10	A	G	3: 104,708,263 (GRCm39)		probably benign	Het
Pclo	A	T	5: 14,590,753 (GRCm39)	T1018S	unknown	Het
Sdk1	T	C	5: 142,071,361 (GRCm39)	Y1184H	probably damaging	Het
Slc6a18	A	T	13: 73,819,838 (GRCm39)	M244K	possibly damaging	Het
Snx19	C	T	9: 30,340,233 (GRCm39)	T457I	possibly damaging	Het
Stard3	T	A	11: 98,267,356 (GRCm39)	V158D	possibly damaging	Het
Tnks	G	T	8: 35,328,843 (GRCm39)		probably benign	Het
Ugt2b34	A	G	5: 87,049,084 (GRCm39)	S314P	probably damaging	Het
Usp15	G	A	10: 122,949,501 (GRCm39)	S952L	probably benign	Het
Utp11	A	G	4: 124,573,532 (GRCm39)	V214A	possibly damaging	Het

Other mutations in Hcfc1r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02494:Hcfc1r1	APN	17	23,893,559 (GRCm39)	missense	probably damaging	1.00
R5267:Hcfc1r1	UTSW	17	23,893,648 (GRCm39)	missense	possibly damaging	0.88
R7838:Hcfc1r1	UTSW	17	23,892,985 (GRCm39)	missense	probably damaging	1.00
R7843:Hcfc1r1	UTSW	17	23,893,630 (GRCm39)	nonsense	probably null

Posted On

2012-04-20