Mutagenetix > Incidental Mutation

Incidental Mutation 'R4465:Slx4'

330319

Institutional Source

Beutler Lab

Gene Symbol

Slx4

Ensembl Gene

ENSMUSG00000039738

Gene Name

SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)

Synonyms

D16Bwg1016e, Btbd12

MMRRC Submission

041580-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4465 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3796969-3821634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3806919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 508 (V508A)

Ref Sequence

ENSEMBL: ENSMUSP00000038871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040790]

AlphaFold

Q6P1D7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040790
AA Change: V508A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038871
Gene: ENSMUSG00000039738
AA Change: V508A

Domain	Start	End	E-Value	Type
low complexity region	400	413	N/A	INTRINSIC
BTB	506	609	6.15e-7	SMART
low complexity region	651	667	N/A	INTRINSIC
low complexity region	833	849	N/A	INTRINSIC
low complexity region	857	875	N/A	INTRINSIC
low complexity region	1176	1192	N/A	INTRINSIC
low complexity region	1437	1461	N/A	INTRINSIC
Pfam:Slx4	1484	1541	3e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128980

Predicted Effect

unknown
Transcript: ENSMUST00000146569
AA Change: V17A

SMART Domains

Protein: ENSMUSP00000126423
Gene: ENSMUSG00000039738
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:BTB	6	102	6.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156542

Meta Mutation Damage Score

0.1945

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein containing a BTB (POZ) domain that comprises a subunit of structure-specific endonucleases. The encoded protein aids in the resolution of DNA secondary structures that arise during the processes of DNA repair and recombination. Knock out of this gene in mouse recapitulates the phenotype of the human disease Fanconi anemia, including blood cytopenia and susceptibility to genomic instability. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit some preweaning lethality, reduced fertility, abnormal eye morphology, abnormal skeletal morphology, hydrocephalus, chromosomal instability, early cellular replicative senescence, and abnormal lymphopoeisis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Acsbg2	A	G	17: 57,168,580 (GRCm39)	Y180H	probably damaging	Het
Adgrb3	G	T	1: 25,133,447 (GRCm39)	T1213K	probably damaging	Het
Atrn	A	G	2: 130,802,388 (GRCm39)	T510A	probably benign	Het
Clasp1	C	A	1: 118,488,808 (GRCm39)	T857N	probably damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Col12a1	C	A	9: 79,580,192 (GRCm39)	V1562F	possibly damaging	Het
Cyp4f40	T	A	17: 32,890,186 (GRCm39)	D285E	probably benign	Het
Dis3	G	A	14: 99,321,550 (GRCm39)	S599L	possibly damaging	Het
Dnah11	T	C	12: 117,951,186 (GRCm39)	T3041A	probably benign	Het
Erbin	T	C	13: 103,981,393 (GRCm39)	N511D	probably benign	Het
F11	T	A	8: 45,694,511 (GRCm39)	I617F	probably damaging	Het
Gm11541	A	T	11: 94,595,048 (GRCm39)	C7S	unknown	Het
Klk12	A	T	7: 43,422,807 (GRCm39)	R245W	probably damaging	Het
Lao1	C	A	4: 118,822,504 (GRCm39)	S141R	probably benign	Het
Lrrk2	A	G	15: 91,632,023 (GRCm39)	K1316E	probably damaging	Het
Map3k6	A	G	4: 132,973,644 (GRCm39)	Y445C	possibly damaging	Het
Mup6	T	C	4: 60,004,000 (GRCm39)	I31T	probably damaging	Het
Ndnf	T	A	6: 65,681,180 (GRCm39)	D486E	probably benign	Het
Or2a54	T	C	6: 43,092,852 (GRCm39)	Y59H	probably damaging	Het
Or8h7	A	T	2: 86,721,494 (GRCm39)	N8K	probably benign	Het
Or8k37	A	T	2: 86,469,478 (GRCm39)	N191K	probably benign	Het
Rab19	T	C	6: 39,365,060 (GRCm39)	S107P	probably damaging	Het
Slc22a29	A	T	19: 8,140,088 (GRCm39)	L439*	probably null	Het
Slc5a1	A	G	5: 33,303,860 (GRCm39)	E225G	possibly damaging	Het
Snx25	A	G	8: 46,521,266 (GRCm39)	S373P	possibly damaging	Het
Stag2	A	G	X: 41,322,749 (GRCm39)	S400G	probably benign	Homo
Tas2r107	A	G	6: 131,636,972 (GRCm39)	Y26H	probably benign	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Zdhhc22	G	A	12: 87,034,997 (GRCm39)	L152F	probably benign	Het
Zfpm2	T	G	15: 40,959,557 (GRCm39)	M80R	probably benign	Het

Other mutations in Slx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Slx4	APN	16	3,808,752 (GRCm39)	missense	probably benign	0.17
IGL01767:Slx4	APN	16	3,808,112 (GRCm39)	missense	probably benign	0.01
IGL02525:Slx4	APN	16	3,798,461 (GRCm39)	missense	probably damaging	1.00
slim	UTSW	16	3,808,774 (GRCm39)	nonsense	probably null
R0033:Slx4	UTSW	16	3,805,864 (GRCm39)	missense	probably benign	0.08
R0070:Slx4	UTSW	16	3,805,880 (GRCm39)	missense	possibly damaging	0.71
R0070:Slx4	UTSW	16	3,805,880 (GRCm39)	missense	possibly damaging	0.71
R0242:Slx4	UTSW	16	3,804,816 (GRCm39)	missense	probably damaging	0.99
R0242:Slx4	UTSW	16	3,804,816 (GRCm39)	missense	probably damaging	0.99
R0363:Slx4	UTSW	16	3,797,953 (GRCm39)	missense	probably damaging	1.00
R0433:Slx4	UTSW	16	3,803,882 (GRCm39)	missense	probably benign	0.01
R0993:Slx4	UTSW	16	3,803,689 (GRCm39)	missense	probably benign	0.00
R1083:Slx4	UTSW	16	3,808,774 (GRCm39)	nonsense	probably null
R1373:Slx4	UTSW	16	3,803,374 (GRCm39)	missense	probably benign	0.02
R1710:Slx4	UTSW	16	3,817,022 (GRCm39)	missense	probably benign	0.15
R1712:Slx4	UTSW	16	3,809,458 (GRCm39)	missense	probably damaging	0.99
R1874:Slx4	UTSW	16	3,804,712 (GRCm39)	missense	probably benign	0.25
R1937:Slx4	UTSW	16	3,805,030 (GRCm39)	makesense	probably null
R2008:Slx4	UTSW	16	3,797,785 (GRCm39)	missense	probably damaging	1.00
R2156:Slx4	UTSW	16	3,804,223 (GRCm39)	missense	probably benign	0.00
R2427:Slx4	UTSW	16	3,806,851 (GRCm39)	missense	probably damaging	0.99
R3765:Slx4	UTSW	16	3,798,850 (GRCm39)	missense	probably damaging	1.00
R3890:Slx4	UTSW	16	3,797,773 (GRCm39)	missense	probably damaging	1.00
R3891:Slx4	UTSW	16	3,797,773 (GRCm39)	missense	probably damaging	1.00
R4467:Slx4	UTSW	16	3,806,919 (GRCm39)	missense	possibly damaging	0.82
R4497:Slx4	UTSW	16	3,812,773 (GRCm39)	missense	probably damaging	1.00
R4882:Slx4	UTSW	16	3,798,860 (GRCm39)	critical splice acceptor site	probably null
R5119:Slx4	UTSW	16	3,819,063 (GRCm39)	missense	possibly damaging	0.89
R5384:Slx4	UTSW	16	3,808,669 (GRCm39)	missense	probably damaging	1.00
R5472:Slx4	UTSW	16	3,809,404 (GRCm39)	missense	probably benign	0.13
R5578:Slx4	UTSW	16	3,804,726 (GRCm39)	missense	probably damaging	1.00
R5582:Slx4	UTSW	16	3,803,652 (GRCm39)	missense	possibly damaging	0.93
R5696:Slx4	UTSW	16	3,797,831 (GRCm39)	missense	probably damaging	1.00
R5827:Slx4	UTSW	16	3,819,148 (GRCm39)	missense	possibly damaging	0.94
R5964:Slx4	UTSW	16	3,818,815 (GRCm39)	critical splice donor site	probably null
R6032:Slx4	UTSW	16	3,798,021 (GRCm39)	missense	probably damaging	1.00
R6032:Slx4	UTSW	16	3,798,021 (GRCm39)	missense	probably damaging	1.00
R6039:Slx4	UTSW	16	3,803,911 (GRCm39)	missense	possibly damaging	0.82
R6039:Slx4	UTSW	16	3,803,911 (GRCm39)	missense	possibly damaging	0.82
R6345:Slx4	UTSW	16	3,808,714 (GRCm39)	missense	probably benign	0.06
R6612:Slx4	UTSW	16	3,803,140 (GRCm39)	missense	probably damaging	0.99
R6979:Slx4	UTSW	16	3,802,879 (GRCm39)	missense	probably damaging	0.96
R6989:Slx4	UTSW	16	3,813,702 (GRCm39)	missense	probably damaging	1.00
R7171:Slx4	UTSW	16	3,808,650 (GRCm39)	missense	probably benign
R7214:Slx4	UTSW	16	3,806,844 (GRCm39)	missense	probably benign	0.18
R7354:Slx4	UTSW	16	3,804,963 (GRCm39)	missense	probably benign	0.28
R7490:Slx4	UTSW	16	3,797,995 (GRCm39)	missense	possibly damaging	0.91
R7545:Slx4	UTSW	16	3,817,164 (GRCm39)	missense	probably benign	0.11
R7547:Slx4	UTSW	16	3,803,436 (GRCm39)	missense	probably benign	0.05
R7790:Slx4	UTSW	16	3,804,846 (GRCm39)	missense	probably benign	0.03
R8119:Slx4	UTSW	16	3,803,136 (GRCm39)	nonsense	probably null
R8815:Slx4	UTSW	16	3,803,458 (GRCm39)	missense	probably benign	0.26
R8955:Slx4	UTSW	16	3,808,111 (GRCm39)	missense	probably benign
R9205:Slx4	UTSW	16	3,805,927 (GRCm39)	missense	possibly damaging	0.74
R9321:Slx4	UTSW	16	3,804,654 (GRCm39)	missense	probably benign	0.06
R9364:Slx4	UTSW	16	3,805,820 (GRCm39)	missense	probably benign	0.00
R9544:Slx4	UTSW	16	3,797,917 (GRCm39)	missense	probably damaging	0.97
R9554:Slx4	UTSW	16	3,805,820 (GRCm39)	missense	probably benign	0.00
R9632:Slx4	UTSW	16	3,803,969 (GRCm39)	missense	probably benign	0.00
R9665:Slx4	UTSW	16	3,806,890 (GRCm39)	missense	probably benign	0.28
R9718:Slx4	UTSW	16	3,804,328 (GRCm39)	missense	possibly damaging	0.73
R9772:Slx4	UTSW	16	3,818,849 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ATCAGGAGTCTCACAGTGATGC -3'
(R):5'- CATTCTGGCTCGATGATTGATGTC -3'

Sequencing Primer
(F):5'- GAGTCTCACAGTGATGCAAATAC -3'
(R):5'- GATGTCTTCAATGTAACCCAGAGG -3'

Posted On

2015-07-21