Mutagenetix > Incidental Mutation

Incidental Mutation 'R6013:Hrob'

479865

Institutional Source

Beutler Lab

Gene Symbol

Hrob

Ensembl Gene

ENSMUSG00000034773

Gene Name

homologous recombination factor with OB-fold

Synonyms

BC030867

MMRRC Submission

044189-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.481) question?

Stock #

R6013 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102139708-102156013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102145859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 45 (V45A)

Ref Sequence

ENSEMBL: ENSMUSP00000137686 (fasta)

Gene Model

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

AlphaFold

Q32P12

Predicted Effect

probably benign
Transcript: ENSMUST00000100392
AA Change: V45A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: V45A

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 benign
Transcript: ENSMUST00000133930
AA Change: V45A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: V45A

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

Meta Mutation Damage Score

0.0720

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	C	T	3: 6,682,310 (GRCm39)		probably null	Het
Aanat	A	T	11: 116,486,950 (GRCm39)		probably null	Het
Abca17	A	T	17: 24,506,820 (GRCm39)	V1178E	possibly damaging	Het
Abcf3	T	A	16: 20,369,311 (GRCm39)		probably null	Het
Alk	A	G	17: 72,207,732 (GRCm39)	M1001T	probably benign	Het
Arhgap23	C	A	11: 97,391,818 (GRCm39)	S1445Y	probably damaging	Het
Atp10a	T	C	7: 58,447,538 (GRCm39)	I760T	probably benign	Het
Cadm1	C	T	9: 47,768,572 (GRCm39)		probably benign	Het
Car10	A	T	11: 93,076,105 (GRCm39)		probably benign	Het
Casq2	G	T	3: 102,052,945 (GRCm39)		probably null	Het
Cemip2	G	A	19: 21,809,403 (GRCm39)	V928I	possibly damaging	Het
Clec4f	T	C	6: 83,632,070 (GRCm39)	I55V	probably benign	Het
Cngb1	T	C	8: 96,010,949 (GRCm39)		probably benign	Het
Csn1s2b	A	G	5: 87,972,098 (GRCm39)		probably null	Het
Cyp2c39	A	C	19: 39,501,969 (GRCm39)	R119S	probably benign	Het
Cyp4f16	C	T	17: 32,765,652 (GRCm39)	A345V	probably null	Het
Ddx43	T	C	9: 78,321,567 (GRCm39)	L412S	probably damaging	Het
Dnajb12	G	A	10: 59,730,163 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,347,691 (GRCm39)	S56P	probably benign	Het
Fam83h	A	G	15: 75,875,849 (GRCm39)	F496S	probably damaging	Het
Gcnt4	T	C	13: 97,083,786 (GRCm39)	S361P	possibly damaging	Het
H2-T23	G	T	17: 36,341,474 (GRCm39)	H332Q	probably benign	Het
Ift57	G	T	16: 49,519,667 (GRCm39)		probably null	Het
Il1rl2	A	G	1: 40,391,017 (GRCm39)	H320R	possibly damaging	Het
Kansl1	A	G	11: 104,241,465 (GRCm39)	V618A	probably benign	Het
Kctd3	T	C	1: 188,728,665 (GRCm39)	E157G	probably benign	Het
Magohb	T	A	6: 131,270,037 (GRCm39)	D31V	possibly damaging	Het
Mdn1	C	A	4: 32,715,713 (GRCm39)	F1993L	probably damaging	Het
Med29	C	A	7: 28,086,418 (GRCm39)	C130F	probably benign	Het
Mtmr7	G	A	8: 41,034,570 (GRCm39)	R251C	probably damaging	Het
Ncor1	T	C	11: 62,211,903 (GRCm39)	I49V	probably benign	Het
Nfkb1	G	T	3: 135,332,445 (GRCm39)	T109K	possibly damaging	Het
Pkd1l1	A	G	11: 8,819,452 (GRCm39)		probably null	Het
Pkp1	T	A	1: 135,811,648 (GRCm39)	T408S	probably damaging	Het
Plec	A	T	15: 76,073,510 (GRCm39)	D501E	possibly damaging	Het
Prcp	A	C	7: 92,576,976 (GRCm39)	Y335S	possibly damaging	Het
Reg2	T	A	6: 78,384,952 (GRCm39)	Y165N	possibly damaging	Het
Rnf7	T	C	9: 96,353,787 (GRCm39)	*114W	probably null	Het
Scg3	T	C	9: 75,584,090 (GRCm39)	D137G	probably damaging	Het
Serpinb7	T	C	1: 107,377,919 (GRCm39)	V204A	probably benign	Het
Sez6	C	T	11: 77,864,623 (GRCm39)	H528Y	probably damaging	Het
Sf3b1	A	T	1: 55,039,457 (GRCm39)	S723T	probably damaging	Het
Shtn1	T	C	19: 58,963,533 (GRCm39)	D594G	probably damaging	Het
Sptbn4	A	G	7: 27,063,904 (GRCm39)	L2174P	probably damaging	Het
Stk25	A	G	1: 93,553,181 (GRCm39)		probably null	Het
Tep1	A	T	14: 51,098,505 (GRCm39)	F429I	probably damaging	Het
Thada	T	A	17: 84,580,228 (GRCm39)	I1409F	probably benign	Het
Usp25	G	A	16: 76,873,909 (GRCm39)	G495E	probably benign	Het
Washc2	A	G	6: 116,231,114 (GRCm39)	S844G	probably damaging	Het
Xirp2	A	T	2: 67,341,287 (GRCm39)	H1176L	possibly damaging	Het
Ypel1	T	C	16: 16,918,129 (GRCm39)	N96D	probably damaging	Het
Zfand6	C	A	7: 84,281,900 (GRCm39)	V110L	probably benign	Het
Zfp30	A	G	7: 29,488,846 (GRCm39)	R8G	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
IGL02156:Hrob	APN	11	102,145,865 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTAAATTCCCAGATGCAGAGACCC -3'
(R):5'- GCTAGAAATGGAGGCAGGTCTC -3'

Sequencing Primer
(F):5'- GTGATAGTCCTGGCCTATAATCCCAG -3'
(R):5'- TCAGGGACATCACTCCTGTG -3'

Posted On

2017-06-26