Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02156:Hrob'

282216

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hrob

Ensembl Gene

ENSMUSG00000034773

Gene Name

homologous recombination factor with OB-fold

Synonyms

BC030867

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.456) question?

Stock #

IGL02156

Quality Score

Status

Chromosome

Chromosomal Location

102139708-102156013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102145865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 47 (S47F)

Ref Sequence

ENSEMBL: ENSMUSP00000137686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100392] [ENSMUST00000133930]

AlphaFold

Q32P12

Predicted Effect

probably damaging
Transcript: ENSMUST00000100392
AA Change: S47F

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

SMART Domains

Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: S47F

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	100	108	N/A	INTRINSIC
low complexity region	302	317	N/A	INTRINSIC
Pfam:DUF4539	458	541	4.4e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000133930
AA Change: S47F

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

SMART Domains

Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: S47F

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	100	108	N/A	INTRINSIC
low complexity region	302	317	N/A	INTRINSIC
Pfam:DUF4539	457	542	3.2e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152897

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930408O17Rik	G	A	12: 104,837,566 (GRCm39)		noncoding transcript	Het
Adam33	G	A	2: 130,895,078 (GRCm39)		probably benign	Het
Akr7a5	C	A	4: 139,041,580 (GRCm39)	A163D	probably damaging	Het
Arap1	T	C	7: 101,037,937 (GRCm39)		probably benign	Het
Asf1a	C	T	10: 53,482,239 (GRCm39)	A17V	probably benign	Het
Atp1a4	A	T	1: 172,085,529 (GRCm39)	S25T	probably benign	Het
Cbln4	T	C	2: 171,884,128 (GRCm39)	I31V	probably benign	Het
Ccdc93	T	G	1: 121,376,005 (GRCm39)	L172R	possibly damaging	Het
Ceacam9	T	C	7: 16,457,544 (GRCm39)		probably benign	Het
Crhr1	C	A	11: 104,054,709 (GRCm39)	N107K	probably benign	Het
Cyp11b1	T	A	15: 74,707,646 (GRCm39)	M488L	probably benign	Het
Dnah7a	A	G	1: 53,458,882 (GRCm39)	V3752A	probably benign	Het
Dnhd1	G	A	7: 105,370,951 (GRCm39)	V4744M	probably damaging	Het
Dstyk	C	A	1: 132,377,664 (GRCm39)	N423K	probably benign	Het
Exph5	T	C	9: 53,286,941 (GRCm39)	S1341P	probably damaging	Het
Fam161b	T	C	12: 84,401,527 (GRCm39)	H409R	probably benign	Het
Fbxo21	A	G	5: 118,132,733 (GRCm39)		probably benign	Het
Flt1	A	G	5: 147,618,551 (GRCm39)	I230T	probably damaging	Het
Gm9931	T	C	1: 147,157,366 (GRCm39)		noncoding transcript	Het
Grk6	T	C	13: 55,597,174 (GRCm39)	F36L	possibly damaging	Het
Grm1	G	T	10: 10,595,720 (GRCm39)	A636D	probably damaging	Het
Hectd1	A	T	12: 51,800,916 (GRCm39)		probably benign	Het
Hltf	G	A	3: 20,146,971 (GRCm39)	V577I	possibly damaging	Het
Lrrc8c	A	G	5: 105,755,359 (GRCm39)	D378G	probably damaging	Het
Mcoln1	C	A	8: 3,562,657 (GRCm39)	S6*	probably null	Het
Meis1	A	T	11: 18,961,292 (GRCm39)	S194T	probably benign	Het
Myo1h	A	C	5: 114,491,972 (GRCm39)		probably benign	Het
Nop9	T	A	14: 55,990,740 (GRCm39)	C557*	probably null	Het
Nrap	T	C	19: 56,309,432 (GRCm39)	D1619G	probably damaging	Het
Or10d1c	T	A	9: 38,893,842 (GRCm39)	Y166F	possibly damaging	Het
Or4f61	A	T	2: 111,922,361 (GRCm39)	H228Q	probably benign	Het
Or7g34	A	G	9: 19,478,494 (GRCm39)	M59T	probably damaging	Het
Pard3b	T	A	1: 61,807,109 (GRCm39)	D41E	possibly damaging	Het
Parp14	G	T	16: 35,678,967 (GRCm39)	Q334K	probably benign	Het
Phf3	A	T	1: 30,847,859 (GRCm39)	I1228K	probably damaging	Het
Polr1b	T	A	2: 128,965,799 (GRCm39)	F814I	probably benign	Het
Prr5	A	G	15: 84,654,236 (GRCm39)	I306V	possibly damaging	Het
Rsph1	T	G	17: 31,477,090 (GRCm39)	S282R	probably benign	Het
Son	T	C	16: 91,452,992 (GRCm39)	S580P	possibly damaging	Het
Sptbn5	G	T	2: 119,878,098 (GRCm39)		probably benign	Het
Ssr2	T	A	3: 88,491,095 (GRCm39)		probably null	Het
Tfpt	A	G	7: 3,632,039 (GRCm39)	S24P	probably damaging	Het
Tg	A	G	15: 66,577,197 (GRCm39)	T1507A	probably benign	Het
Trpm7	A	G	2: 126,641,163 (GRCm39)		probably benign	Het
Wwox	G	A	8: 115,174,899 (GRCm39)		probably null	Het
Ythdf2	C	T	4: 131,931,819 (GRCm39)	R447H	possibly damaging	Het
Zfp385c	A	G	11: 100,519,845 (GRCm39)	F368S	probably damaging	Het
Zfp488	A	G	14: 33,692,357 (GRCm39)	S269P	possibly damaging	Het
Zhx1	A	C	15: 57,917,445 (GRCm39)	V267G	possibly damaging	Het

Other mutations in Hrob

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Hrob	APN	11	102,146,783 (GRCm39)	missense	possibly damaging	0.95
IGL01645:Hrob	APN	11	102,146,012 (GRCm39)	missense	probably damaging	1.00
IGL01750:Hrob	APN	11	102,145,777 (GRCm39)	splice site	probably benign
IGL01759:Hrob	APN	11	102,146,422 (GRCm39)	missense	probably benign
IGL01760:Hrob	APN	11	102,146,422 (GRCm39)	missense	probably benign
IGL01761:Hrob	APN	11	102,146,422 (GRCm39)	missense	probably benign
IGL01762:Hrob	APN	11	102,146,422 (GRCm39)	missense	probably benign
IGL01764:Hrob	APN	11	102,146,422 (GRCm39)	missense	probably benign
IGL01769:Hrob	APN	11	102,146,422 (GRCm39)	missense	probably benign
IGL01778:Hrob	APN	11	102,146,422 (GRCm39)	missense	probably benign
IGL02159:Hrob	APN	11	102,150,991 (GRCm39)	critical splice donor site	probably null
IGL02284:Hrob	APN	11	102,146,422 (GRCm39)	missense	probably benign
IGL02522:Hrob	APN	11	102,148,746 (GRCm39)	missense	possibly damaging	0.94
IGL02989:Hrob	APN	11	102,146,125 (GRCm39)	missense	probably benign	0.00
R2376:Hrob	UTSW	11	102,141,542 (GRCm39)	missense	probably benign	0.05
R2504:Hrob	UTSW	11	102,146,122 (GRCm39)	missense	possibly damaging	0.48
R3731:Hrob	UTSW	11	102,148,732 (GRCm39)	missense	possibly damaging	0.95
R5566:Hrob	UTSW	11	102,146,659 (GRCm39)	missense	probably damaging	0.99
R5774:Hrob	UTSW	11	102,146,495 (GRCm39)	missense	possibly damaging	0.82
R5864:Hrob	UTSW	11	102,145,972 (GRCm39)	missense	probably benign	0.00
R6013:Hrob	UTSW	11	102,145,859 (GRCm39)	missense	probably benign	0.00
R6250:Hrob	UTSW	11	102,145,888 (GRCm39)	missense	probably benign
R7264:Hrob	UTSW	11	102,146,422 (GRCm39)	missense	probably benign	0.00
R8013:Hrob	UTSW	11	102,148,725 (GRCm39)	missense	probably benign	0.02
R8014:Hrob	UTSW	11	102,148,725 (GRCm39)	missense	probably benign	0.02
R8266:Hrob	UTSW	11	102,153,046 (GRCm39)	missense	possibly damaging	0.94
R8770:Hrob	UTSW	11	102,145,976 (GRCm39)	missense	probably benign	0.00
R8982:Hrob	UTSW	11	102,146,110 (GRCm39)	missense	probably benign	0.22
R9058:Hrob	UTSW	11	102,146,386 (GRCm39)	missense	probably benign	0.03
R9498:Hrob	UTSW	11	102,150,167 (GRCm39)	missense	probably benign	0.03
R9646:Hrob	UTSW	11	102,146,586 (GRCm39)	missense	possibly damaging	0.84
R9647:Hrob	UTSW	11	102,146,586 (GRCm39)	missense	possibly damaging	0.84
R9766:Hrob	UTSW	11	102,146,586 (GRCm39)	missense	possibly damaging	0.84
X0062:Hrob	UTSW	11	102,146,581 (GRCm39)	missense	possibly damaging	0.89
X0065:Hrob	UTSW	11	102,141,553 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16