Mutagenetix > Incidental Mutation

Incidental Mutation 'R7057:Hus1b'

548003

Institutional Source

Beutler Lab

Gene Symbol

Hus1b

Ensembl Gene

ENSMUSG00000076430

Gene Name

HUS1 checkpoint clamp component B

Synonyms

MMRRC Submission

045154-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7057 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31130559-31131744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31131533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 42 (C42Y)

Ref Sequence

ENSEMBL: ENSMUSP00000100007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021785] [ENSMUST00000102943] [ENSMUST00000102946]

AlphaFold

Q8K572

Predicted Effect

probably benign
Transcript: ENSMUST00000021785

SMART Domains

Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357

Domain	Start	End	E-Value	Type
Pfam:TIG	8	92	3.2e-10	PFAM
Pfam:Sec5	198	377	3.6e-59	PFAM
low complexity region	572	585	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102943
AA Change: C42Y

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100007
Gene: ENSMUSG00000076430
AA Change: C42Y

Domain	Start	End	E-Value	Type
Pfam:Hus1	1	276	1.5e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102946

SMART Domains

Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357

Domain	Start	End	E-Value	Type
Pfam:TIG	8	92	2.5e-10	PFAM
Pfam:Sec5	198	377	7.5e-59	PFAM
low complexity region	572	585	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,945,181 (GRCm39)	V220D	probably benign	Het
Ankrd1	T	C	19: 36,095,633 (GRCm39)	E113G	possibly damaging	Het
Aqp12	T	C	1: 92,939,718 (GRCm39)	L249P	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,296 (GRCm39)	F15S	possibly damaging	Het
Bub1	T	A	2: 127,671,447 (GRCm39)	M46L	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2cd4d	A	G	3: 94,270,800 (GRCm39)	H22R	probably benign	Het
Ccdc157	A	G	11: 4,094,586 (GRCm39)	V480A	probably benign	Het
Cdc42ep3	G	A	17: 79,642,952 (GRCm39)		probably benign	Het
Cela1	T	A	15: 100,580,774 (GRCm39)	T161S	possibly damaging	Het
Chtf18	G	T	17: 25,940,100 (GRCm39)	A697E	possibly damaging	Het
Cr2	T	C	1: 194,833,918 (GRCm39)	D957G	possibly damaging	Het
Cyp2c40	A	G	19: 39,796,063 (GRCm39)	V60A	probably damaging	Het
Dazl	CCATGATGGCGGC	CC	17: 50,600,434 (GRCm39)		probably null	Het
Dock2	A	T	11: 34,177,684 (GRCm39)	L1824Q	probably benign	Het
Dock2	T	C	11: 34,586,044 (GRCm39)	Y546C	probably benign	Het
Focad	G	A	4: 88,192,342 (GRCm39)	C557Y	unknown	Het
Ftmt	T	A	18: 52,465,180 (GRCm39)	N165K	probably benign	Het
Gen1	A	C	12: 11,292,419 (GRCm39)	S457A	probably benign	Het
Gja1	T	G	10: 56,264,129 (GRCm39)	S163A	probably benign	Het
Gm8267	T	C	14: 44,959,481 (GRCm39)	I194M	probably damaging	Het
Golga3	T	A	5: 110,336,529 (GRCm39)	S389R	probably damaging	Het
Gpc5	C	A	14: 115,370,654 (GRCm39)	Q87K	possibly damaging	Het
Hmcn2	G	A	2: 31,312,661 (GRCm39)	A3420T	probably damaging	Het
Htt	A	G	5: 34,979,067 (GRCm39)	S817G	probably null	Het
Iars2	A	G	1: 185,021,564 (GRCm39)	F913L	probably benign	Het
Kcna4	A	G	2: 107,125,665 (GRCm39)	E133G	probably damaging	Het
Klhl36	T	C	8: 120,603,536 (GRCm39)	L597P	probably benign	Het
Ltv1	T	C	10: 13,056,646 (GRCm39)	E299G	possibly damaging	Het
Mmp12	A	G	9: 7,357,840 (GRCm39)	Y348C	probably damaging	Het
Mmp12	G	A	9: 7,369,173 (GRCm39)	V270I	probably benign	Het
Mmp2	A	G	8: 93,558,333 (GRCm39)	D134G	probably damaging	Het
Mrpl15	A	T	1: 4,846,865 (GRCm39)	M237K	probably benign	Het
Ms4a6b	G	T	19: 11,504,253 (GRCm39)	V177F	possibly damaging	Het
Muc16	A	G	9: 18,557,375 (GRCm39)	S2973P	unknown	Het
Or1e30	A	C	11: 73,677,974 (GRCm39)	D70A	possibly damaging	Het
Or4c114	A	C	2: 88,904,808 (GRCm39)	I209S	possibly damaging	Het
Or5b120	G	T	19: 13,480,243 (GRCm39)	D179Y	probably damaging	Het
Or5b12b	A	T	19: 12,862,006 (GRCm39)	I254F	probably damaging	Het
Or8b48	A	T	9: 38,493,050 (GRCm39)	H159L	probably damaging	Het
Pikfyve	T	A	1: 65,286,364 (GRCm39)	I1201K	probably benign	Het
Plekhn1	T	G	4: 156,318,374 (GRCm39)	M83L	probably damaging	Het
Pnlip	G	T	19: 58,664,695 (GRCm39)	D212Y	probably damaging	Het
Pomt2	T	C	12: 87,174,152 (GRCm39)	N417S	probably damaging	Het
Pxylp1	T	A	9: 96,707,103 (GRCm39)	M360L	probably benign	Het
Rbak	G	A	5: 143,159,682 (GRCm39)	T457I	possibly damaging	Het
Runx2	A	T	17: 45,125,424 (GRCm39)	W31R	probably null	Het
Sec16a	T	A	2: 26,315,277 (GRCm39)	I1795F	probably damaging	Het
Sik2	A	T	9: 50,909,861 (GRCm39)	I64N	probably damaging	Het
Slc26a8	T	C	17: 28,857,371 (GRCm39)	E924G	possibly damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc45a4	C	A	15: 73,459,487 (GRCm39)	D174Y	probably damaging	Het
Slc6a6	A	C	6: 91,718,248 (GRCm39)	E354A	probably damaging	Het
Slc8a1	A	T	17: 81,956,524 (GRCm39)	S171R	probably damaging	Het
Srgap1	T	C	10: 121,640,858 (GRCm39)	I669M	probably benign	Het
Stk39	C	A	2: 68,240,471 (GRCm39)	A87S	possibly damaging	Het
Tasor	A	T	14: 27,183,608 (GRCm39)	N689I	probably damaging	Het
Tbx18	C	A	9: 87,587,317 (GRCm39)	S600I	possibly damaging	Het
Tesc	A	C	5: 118,193,025 (GRCm39)	K114Q	probably damaging	Het
Tll1	T	C	8: 64,554,915 (GRCm39)	D256G	probably damaging	Het
Tmem35b	T	A	4: 127,021,679 (GRCm39)	I45K	probably benign	Het
Tnks	T	C	8: 35,307,168 (GRCm39)	D1127G	probably damaging	Het
Trpm8	A	T	1: 88,289,802 (GRCm39)	D920V	probably null	Het
U2af1	A	T	17: 31,867,831 (GRCm39)	D79E	probably benign	Het
Zfp704	T	C	3: 9,535,977 (GRCm39)	D331G	probably damaging	Het
Znrf3	G	T	11: 5,232,442 (GRCm39)	P261Q	probably benign	Het
Zscan4b	A	T	7: 10,635,636 (GRCm39)	C202*	probably null	Het

Other mutations in Hus1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Hus1b	APN	13	31,131,527 (GRCm39)	missense	probably benign
IGL02058:Hus1b	APN	13	31,130,900 (GRCm39)	missense	probably benign	0.10
R1104:Hus1b	UTSW	13	31,131,679 (GRCm39)	intron	probably benign
R1476:Hus1b	UTSW	13	31,130,984 (GRCm39)	missense	probably benign	0.10
R3154:Hus1b	UTSW	13	31,131,236 (GRCm39)	missense	probably benign
R4551:Hus1b	UTSW	13	31,131,059 (GRCm39)	missense	probably damaging	1.00
R4583:Hus1b	UTSW	13	31,131,501 (GRCm39)	missense	probably damaging	1.00
R5481:Hus1b	UTSW	13	31,130,942 (GRCm39)	missense	probably benign	0.15
R6416:Hus1b	UTSW	13	31,131,188 (GRCm39)	missense	probably damaging	1.00
R6519:Hus1b	UTSW	13	31,130,930 (GRCm39)	missense	probably benign	0.01
R7569:Hus1b	UTSW	13	31,130,847 (GRCm39)	missense	probably damaging	1.00
R8175:Hus1b	UTSW	13	31,131,215 (GRCm39)	missense	probably benign	0.25
R9210:Hus1b	UTSW	13	31,130,858 (GRCm39)	missense	possibly damaging	0.72
R9212:Hus1b	UTSW	13	31,130,858 (GRCm39)	missense	possibly damaging	0.72
R9430:Hus1b	UTSW	13	31,131,587 (GRCm39)	missense	probably damaging	0.99
Z1177:Hus1b	UTSW	13	31,130,975 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTGGAGCTTCAGGGATGAAG -3'
(R):5'- AAGGGTAAGCAGGCTACACTCC -3'

Sequencing Primer
(F):5'- ATGAAGCATTGCCGGCATTC -3'
(R):5'- AGAGTGAACCAGCTGACTTCTCTG -3'

Posted On

2019-05-13