Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01767:Slx4'

153382

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slx4

Ensembl Gene

ENSMUSG00000039738

Gene Name

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

Synonyms

Btbd12, D16Bwg1016e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

3979105-4003770 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3990248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 481 (K481E)

Ref Sequence

ENSEMBL: ENSMUSP00000038871 (fasta)

Gene Model

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

AlphaFold

Q6P1D7

Predicted Effect

probably benign
Transcript: ENSMUST00000040790
AA Change: K481E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000038871
Gene: ENSMUSG00000039738
AA Change: K481E

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

probably benign
Transcript: ENSMUST00000146569

SMART Domains

Protein: ENSMUSP00000126423
Gene: ENSMUSG00000039738

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156542

Predicted Effect

probably benign
Transcript: ENSMUST00000165830

Coding Region Coverage

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,041,363	V4505A	probably benign	Het
Aadat	A	T	8: 60,507,092	D31V	probably damaging	Het
Acaca	A	T	11: 84,320,542	Y1560F	probably benign	Het
Actl7a	A	G	4: 56,743,980	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,559,814	V270A	probably benign	Het
Adgre4	G	A	17: 55,797,740	V269I	probably benign	Het
Ankhd1	A	G	18: 36,648,374	T2160A	probably damaging	Het
Bnip2	T	A	9: 70,002,116		probably benign	Het
Casp16-ps	A	G	17: 23,552,053	V126A	probably damaging	Het
Ccser1	C	A	6: 61,718,152	T157K	probably benign	Het
Cdh23	A	G	10: 60,315,724	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,913,465	C21S	probably damaging	Het
Chmp6	G	A	11: 119,916,986	E72K	probably benign	Het
Cldn23	T	C	8: 35,825,662	Y224C	probably damaging	Het
Cry1	C	T	10: 85,146,474	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,506,982	F30I	probably benign	Het
Dgcr8	T	A	16: 18,278,336	D496V	probably damaging	Het
Dhx9	A	G	1: 153,468,868		probably benign	Het
Dnah10	C	T	5: 124,743,737		probably benign	Het
Dock9	T	C	14: 121,622,870	E880G	possibly damaging	Het
Dscam	A	G	16: 96,654,936	V1264A	probably damaging	Het
Eno1	T	C	4: 150,246,710	Y270H	probably benign	Het
Eprs	A	G	1: 185,384,915	D385G	probably damaging	Het
Ercc2	A	G	7: 19,390,421	Y215C	probably damaging	Het
Fam208b	G	A	13: 3,576,633	P1106S	probably benign	Het
Fscn2	A	G	11: 120,367,750	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,939,201	T449I	probably benign	Het
Gm43638	T	C	5: 87,465,431	K492E	probably damaging	Het
Gm4778	T	A	3: 94,266,484	D262E	probably benign	Het
Gm5263	T	G	1: 146,420,564		noncoding transcript	Het
Gm8122	T	C	14: 43,232,701	T111A	unknown	Het
Gtf3c2	T	A	5: 31,157,635	N923Y	probably benign	Het
Il17a	T	A	1: 20,733,640	D86E	probably benign	Het
Itgb2l	G	T	16: 96,430,575	N330K	probably benign	Het
Kcnj11	T	C	7: 46,099,065	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,619,176	Y272*	probably null	Het
Kndc1	A	T	7: 139,930,046	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,286,424	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,491,545	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,547,272	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,750,315	L270P	probably damaging	Het
Med13	A	T	11: 86,319,783	I511N	probably benign	Het
Myo3a	A	T	2: 22,423,222	E763D	probably damaging	Het
Olfr1240	C	T	2: 89,439,800	V160I	probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr1447	T	A	19: 12,901,748	T11S	probably benign	Het
Olfr384	T	A	11: 73,603,032	F151I	probably benign	Het
Olfr845	G	A	9: 19,339,302	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,237,678	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,118,055	Y127*	probably null	Het
Psg18	A	G	7: 18,353,397	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,469,574	N108K	probably benign	Het
Rictor	A	G	15: 6,777,384	Y707C	probably damaging	Het
Rptn	T	C	3: 93,395,639	F93S	probably benign	Het
Rxrg	T	A	1: 167,627,315	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,223,687		probably benign	Het
Slc25a27	C	T	17: 43,664,073		probably null	Het
Snx19	T	C	9: 30,463,264	W940R	possibly damaging	Het
Tcf20	G	A	15: 82,856,008	P414L	probably damaging	Het
Treml2	T	C	17: 48,302,810	V90A	probably benign	Het
Uckl1	C	T	2: 181,569,534	V501M	probably damaging	Het
Unc79	C	T	12: 103,141,997	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,420,037	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,380,238	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,954,435	D607G	probably benign	Het
Vps13a	C	T	19: 16,663,894	G2288D	probably damaging	Het
Znfx1	G	T	2: 167,055,723	T427N	probably damaging	Het

Other mutations in Slx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Slx4	APN	16	3990888	missense	probably benign	0.17
IGL02525:Slx4	APN	16	3980597	missense	probably damaging	1.00
slim	UTSW	16	3990910	nonsense	probably null
R0033:Slx4	UTSW	16	3988000	missense	probably benign	0.08
R0070:Slx4	UTSW	16	3988016	missense	possibly damaging	0.71
R0070:Slx4	UTSW	16	3988016	missense	possibly damaging	0.71
R0242:Slx4	UTSW	16	3986952	missense	probably damaging	0.99
R0242:Slx4	UTSW	16	3986952	missense	probably damaging	0.99
R0363:Slx4	UTSW	16	3980089	missense	probably damaging	1.00
R0433:Slx4	UTSW	16	3986018	missense	probably benign	0.01
R0993:Slx4	UTSW	16	3985825	missense	probably benign	0.00
R1083:Slx4	UTSW	16	3990910	nonsense	probably null
R1373:Slx4	UTSW	16	3985510	missense	probably benign	0.02
R1710:Slx4	UTSW	16	3999158	missense	probably benign	0.15
R1712:Slx4	UTSW	16	3991594	missense	probably damaging	0.99
R1874:Slx4	UTSW	16	3986848	missense	probably benign	0.25
R1937:Slx4	UTSW	16	3987166	makesense	probably null
R2008:Slx4	UTSW	16	3979921	missense	probably damaging	1.00
R2156:Slx4	UTSW	16	3986359	missense	probably benign	0.00
R2427:Slx4	UTSW	16	3988987	missense	probably damaging	0.99
R3765:Slx4	UTSW	16	3980986	missense	probably damaging	1.00
R3890:Slx4	UTSW	16	3979909	missense	probably damaging	1.00
R3891:Slx4	UTSW	16	3979909	missense	probably damaging	1.00
R4465:Slx4	UTSW	16	3989055	missense	possibly damaging	0.82
R4467:Slx4	UTSW	16	3989055	missense	possibly damaging	0.82
R4497:Slx4	UTSW	16	3994909	missense	probably damaging	1.00
R4882:Slx4	UTSW	16	3980996	critical splice acceptor site	probably null
R5119:Slx4	UTSW	16	4001199	missense	possibly damaging	0.89
R5384:Slx4	UTSW	16	3990805	missense	probably damaging	1.00
R5472:Slx4	UTSW	16	3991540	missense	probably benign	0.13
R5578:Slx4	UTSW	16	3986862	missense	probably damaging	1.00
R5582:Slx4	UTSW	16	3985788	missense	possibly damaging	0.93
R5696:Slx4	UTSW	16	3979967	missense	probably damaging	1.00
R5827:Slx4	UTSW	16	4001284	missense	possibly damaging	0.94
R5964:Slx4	UTSW	16	4000951	critical splice donor site	probably null
R6032:Slx4	UTSW	16	3980157	missense	probably damaging	1.00
R6032:Slx4	UTSW	16	3980157	missense	probably damaging	1.00
R6039:Slx4	UTSW	16	3986047	missense	possibly damaging	0.82
R6039:Slx4	UTSW	16	3986047	missense	possibly damaging	0.82
R6345:Slx4	UTSW	16	3990850	missense	probably benign	0.06
R6612:Slx4	UTSW	16	3985276	missense	probably damaging	0.99
R6979:Slx4	UTSW	16	3985015	missense	probably damaging	0.96
R6989:Slx4	UTSW	16	3995838	missense	probably damaging	1.00
R7171:Slx4	UTSW	16	3990786	missense	probably benign
R7214:Slx4	UTSW	16	3988980	missense	probably benign	0.18
R7354:Slx4	UTSW	16	3987099	missense	probably benign	0.28
R7490:Slx4	UTSW	16	3980131	missense	possibly damaging	0.91
R7545:Slx4	UTSW	16	3999300	missense	probably benign	0.11
R7547:Slx4	UTSW	16	3985572	missense	probably benign	0.05
R7790:Slx4	UTSW	16	3986982	missense	probably benign	0.03
R8119:Slx4	UTSW	16	3985272	nonsense	probably null
R8815:Slx4	UTSW	16	3985594	missense	probably benign	0.26
R8955:Slx4	UTSW	16	3990247	missense	probably benign
R9205:Slx4	UTSW	16	3988063	missense	possibly damaging	0.74
R9321:Slx4	UTSW	16	3986790	missense	probably benign	0.06
R9364:Slx4	UTSW	16	3987956	missense	probably benign	0.00
R9544:Slx4	UTSW	16	3980053	missense	probably damaging	0.97
R9554:Slx4	UTSW	16	3987956	missense	probably benign	0.00
R9632:Slx4	UTSW	16	3986105	missense	probably benign	0.00
R9665:Slx4	UTSW	16	3989026	missense	probably benign	0.28
R9718:Slx4	UTSW	16	3986464	missense	possibly damaging	0.73
R9772:Slx4	UTSW	16	4000985	missense

Posted On

2014-02-04