Mutagenetix > Incidental Mutation

Incidental Mutation 'R0714:Slx1b'

85908

Institutional Source

Beutler Lab

Gene Symbol

Slx1b

Ensembl Gene

ENSMUSG00000059772

Gene Name

SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae)

Synonyms

2410170E21Rik, 4833422P03Rik, Giyd2, 1110030E23Rik

MMRRC Submission

038897-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0714 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126288640-126294956 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126291620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 148 (I148N)

Ref Sequence

ENSEMBL: ENSMUSP00000118182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106369] [ENSMUST00000130498] [ENSMUST00000142337] [ENSMUST00000144897]

AlphaFold

Q8BX32

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000052145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000084586

Predicted Effect

probably benign
Transcript: ENSMUST00000106369

SMART Domains

Protein: ENSMUSP00000101977
Gene: ENSMUSG00000047721

Domain	Start	End	E-Value	Type
Pfam:BolA	10	54	4.7e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122029

Predicted Effect

probably benign
Transcript: ENSMUST00000130498

SMART Domains

Protein: ENSMUSP00000114873
Gene: ENSMUSG00000047721

Domain	Start	End	E-Value	Type
Pfam:BolA	12	79	1.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142337

SMART Domains

Protein: ENSMUSP00000117927
Gene: ENSMUSG00000059772

Domain	Start	End	E-Value	Type
Pfam:GIY-YIG	10	58	1.5e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144571

Predicted Effect

probably damaging
Transcript: ENSMUST00000144897
AA Change: I148N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118182
Gene: ENSMUSG00000059772
AA Change: I148N

Domain	Start	End	E-Value	Type
GIYc	10	112	1.14e-3	SMART
low complexity region	152	163	N/A	INTRINSIC
low complexity region	194	205	N/A	INTRINSIC
low complexity region	214	229	N/A	INTRINSIC
low complexity region	250	270	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155012

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

100% (52/52)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit mouse embryonic fibroblasts that are more sensitive to DNA interstrand corsslinking agents with increased cell death, chromatide breaks, radial structures and impaired resolution of Holliday junctions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	G	A	19: 21,655,973 (GRCm39)	R85H	probably damaging	Het
Adamts13	A	G	2: 26,876,997 (GRCm39)		probably benign	Het
Alb	T	C	5: 90,610,665 (GRCm39)	S82P	possibly damaging	Het
Arhgap10	G	A	8: 78,078,316 (GRCm39)		probably benign	Het
Aspscr1	T	A	11: 120,594,493 (GRCm39)		probably null	Het
Capn3	A	T	2: 120,322,361 (GRCm39)	Q359L	probably benign	Het
Ccdc110	A	T	8: 46,396,047 (GRCm39)	D646V	possibly damaging	Het
Ccr2	G	A	9: 123,905,966 (GRCm39)	G82D	probably benign	Het
Col6a4	A	G	9: 105,895,102 (GRCm39)		probably benign	Het
Dhx29	T	C	13: 113,064,499 (GRCm39)	V58A	possibly damaging	Het
Dhx35	C	A	2: 158,686,103 (GRCm39)	Q593K	probably benign	Het
Dmd	T	C	X: 83,353,503 (GRCm39)	L2240P	probably benign	Het
Emc7	A	G	2: 112,293,277 (GRCm39)	N162S	possibly damaging	Het
Exoc7	A	T	11: 116,184,120 (GRCm39)	N483K	probably benign	Het
Fbxo34	T	C	14: 47,767,486 (GRCm39)	V282A	probably damaging	Het
Fndc3c1	A	T	X: 105,468,972 (GRCm39)	Y1087*	probably null	Het
Kat2a	A	G	11: 100,602,178 (GRCm39)	V192A	probably damaging	Het
Larp7	T	C	3: 127,340,833 (GRCm39)	D64G	probably damaging	Het
Lnx1	A	G	5: 74,768,570 (GRCm39)		probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Nckipsd	C	A	9: 108,691,333 (GRCm39)		probably benign	Het
Ndufab1	A	G	7: 121,695,960 (GRCm39)		probably benign	Het
Nedd4	G	A	9: 72,638,728 (GRCm39)		probably benign	Het
Nrsn2	G	A	2: 152,216,042 (GRCm39)	R54*	probably null	Het
Nt5dc3	T	A	10: 86,648,238 (GRCm39)	V171E	probably damaging	Het
Nudt8	A	G	19: 4,052,023 (GRCm39)	*211W	probably null	Het
Nxph4	A	G	10: 127,362,808 (GRCm39)	S28P	probably damaging	Het
Or4f14b	A	G	2: 111,774,898 (GRCm39)	V301A	probably benign	Het
Or8k17	A	C	2: 86,066,498 (GRCm39)	L227R	probably damaging	Het
Or9g4b	A	G	2: 85,616,743 (GRCm39)	D296G	probably damaging	Het
Pcdhb15	A	G	18: 37,607,674 (GRCm39)	Y302C	probably damaging	Het
Pkdrej	A	G	15: 85,699,712 (GRCm39)	S2075P	possibly damaging	Het
Sdhc	A	T	1: 170,957,488 (GRCm39)		probably benign	Het
Sidt2	A	G	9: 45,858,358 (GRCm39)		probably benign	Het
Sik2	T	C	9: 50,818,736 (GRCm39)	M413V	probably benign	Het
Slc5a4b	A	G	10: 75,917,341 (GRCm39)	F232L	probably benign	Het
Spag17	C	G	3: 99,987,472 (GRCm39)	S1587R	probably damaging	Het
St13	T	C	15: 81,267,228 (GRCm39)	D74G	probably benign	Het
St7l	G	A	3: 104,782,244 (GRCm39)	R207H	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tacc3	T	C	5: 33,828,741 (GRCm39)		probably benign	Het
Tbx22	G	A	X: 106,728,731 (GRCm39)	V421I	probably benign	Het
Tmc3	G	A	7: 83,265,969 (GRCm39)	A705T	possibly damaging	Het
Tmem130	C	T	5: 144,674,619 (GRCm39)	V369M	probably damaging	Het
Tonsl	T	C	15: 76,517,921 (GRCm39)		probably benign	Het
Trpm6	T	A	19: 18,815,451 (GRCm39)	I1179N	possibly damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Utp23	T	G	15: 51,745,665 (GRCm39)	V55G	possibly damaging	Het
Vps11	A	G	9: 44,270,953 (GRCm39)	V143A	possibly damaging	Het
Vps50	G	T	6: 3,571,105 (GRCm39)	V618F	probably benign	Het

Other mutations in Slx1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0437:Slx1b	UTSW	7	126,291,753 (GRCm39)	missense	probably benign	0.02
R0601:Slx1b	UTSW	7	126,291,812 (GRCm39)	missense	probably damaging	1.00
R1457:Slx1b	UTSW	7	126,291,968 (GRCm39)	missense	probably damaging	0.98
R3975:Slx1b	UTSW	7	126,290,979 (GRCm39)	missense	probably damaging	1.00
R4757:Slx1b	UTSW	7	126,291,701 (GRCm39)	missense	probably benign
R4950:Slx1b	UTSW	7	126,290,939 (GRCm39)	utr 3 prime	probably benign
R6194:Slx1b	UTSW	7	126,291,503 (GRCm39)	missense	possibly damaging	0.80
R7334:Slx1b	UTSW	7	126,291,699 (GRCm39)	missense	probably damaging	0.99
R9664:Slx1b	UTSW	7	126,291,698 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGAAAGAACTGCCCTCCTCATTAG -3'
(R):5'- TGGCAACATCCTCAAGCTTCACG -3'

Sequencing Primer
(F):5'- TCTGGCCTTGGTACCTAGAT -3'
(R):5'- TTCTGGCGCACATGCTT -3'

Posted On

2013-11-18