Mutagenetix > Incidental Mutation

Incidental Mutation 'R9632:Slx4'

725625

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9632 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3796969-3821634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3803969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 948 (H948Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038871 (fasta)

Gene Model

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

AlphaFold

Q6P1D7

Predicted Effect

probably benign
Transcript: ENSMUST00000040790
AA Change: H948Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000038871
Gene: ENSMUSG00000039738
AA Change: H948Q

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,389,072 (GRCm39)	I570T	probably damaging	Het
Adamtsl4	G	A	3: 95,589,090 (GRCm39)	T447I	probably damaging	Het
Ahcyl1	T	A	3: 107,578,494 (GRCm39)	I248F	possibly damaging	Het
Arhgef2	T	C	3: 88,528,576 (GRCm39)	I4T	probably benign	Het
Bin2	T	C	15: 100,549,915 (GRCm39)	D176G	possibly damaging	Het
Bptf	T	A	11: 106,952,545 (GRCm39)	T2166S	probably damaging	Het
Cachd1	T	A	4: 100,832,092 (GRCm39)	N751K	probably benign	Het
Castor1	A	G	11: 4,169,015 (GRCm39)	K61E	probably benign	Het
CN725425	A	T	15: 91,126,851 (GRCm39)	T214S	possibly damaging	Het
Crtam	A	T	9: 40,895,671 (GRCm39)	D218E	probably benign	Het
Ctsj	C	T	13: 61,151,828 (GRCm39)	M76I	probably benign	Het
Cuedc1	C	A	11: 88,060,955 (GRCm39)	S99R	possibly damaging	Het
Cyp4a14	T	A	4: 115,349,347 (GRCm39)	I238F	probably benign	Het
Dnajb11	A	T	16: 22,681,344 (GRCm39)	I41F	probably damaging	Het
Drd3	A	G	16: 43,643,135 (GRCm39)	N425S	probably damaging	Het
Eci1	G	C	17: 24,645,859 (GRCm39)	G25R	probably damaging	Het
Etl4	A	T	2: 20,666,749 (GRCm39)	N52I	probably benign	Het
Fbxo34	T	C	14: 47,768,724 (GRCm39)	Y746H	probably damaging	Het
Fcgbpl1	A	G	7: 27,841,726 (GRCm39)	I554V	probably benign	Het
Fndc1	T	C	17: 7,991,622 (GRCm39)	I691M	unknown	Het
Fut8	A	G	12: 77,440,507 (GRCm39)	T165A	probably benign	Het
Galr1	A	T	18: 82,424,103 (GRCm39)	L58Q	probably damaging	Het
Glt28d2	T	C	3: 85,779,059 (GRCm39)	D138G	probably benign	Het
Gm11595	A	T	11: 99,663,097 (GRCm39)	C194*	probably null	Het
Gm14403	T	A	2: 177,201,421 (GRCm39)	N213K	probably benign	Het
Gmpr	T	C	13: 45,699,519 (GRCm39)	V343A	probably benign	Het
Hacd1	T	C	2: 14,040,678 (GRCm39)	N152D	possibly damaging	Het
Hcn1	A	G	13: 118,010,522 (GRCm39)	S367G	probably benign	Het
Impg1	A	G	9: 80,287,276 (GRCm39)	V390A	probably benign	Het
Itpr1	T	C	6: 108,382,481 (GRCm39)	C1458R	possibly damaging	Het
Kif16b	A	T	2: 142,553,960 (GRCm39)	V946E	probably benign	Het
Krt71	T	C	15: 101,644,988 (GRCm39)	E441G	probably damaging	Het
Lhcgr	A	G	17: 89,049,532 (GRCm39)	F665L	probably benign	Het
Lrrc37	T	A	11: 103,433,252 (GRCm39)	S3306C	unknown	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map3k8	A	T	18: 4,339,546 (GRCm39)	V275D	probably damaging	Het
Marchf8	C	T	6: 116,378,405 (GRCm39)	T113I	possibly damaging	Het
Mmp15	A	G	8: 96,098,731 (GRCm39)		probably null	Het
Mpst	A	G	15: 78,294,469 (GRCm39)	D67G	probably damaging	Het
Nanog	T	C	6: 122,684,799 (GRCm39)	S20P	probably benign	Het
Ndufc2	T	C	7: 97,056,102 (GRCm39)	S67P	probably damaging	Het
Nrg1	T	C	8: 32,407,621 (GRCm39)	K204R	possibly damaging	Het
Nsf	T	A	11: 103,714,594 (GRCm39)	K728N	probably damaging	Het
Nutm2	C	A	13: 50,628,901 (GRCm39)	P655H	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or10g9	A	T	9: 39,912,172 (GRCm39)	M117K	probably damaging	Het
Or11h4	C	T	14: 50,974,199 (GRCm39)	C140Y	probably benign	Het
Or4a15	T	C	2: 89,193,065 (GRCm39)	Y236C	probably damaging	Het
Or4c102	A	T	2: 88,423,057 (GRCm39)	Q303L	probably benign	Het
Or4c120	T	C	2: 89,001,752 (GRCm39)		probably benign	Het
Or56a5	T	A	7: 104,793,165 (GRCm39)	T112S	probably benign	Het
Otog	A	T	7: 45,915,143 (GRCm39)	Q836L	probably benign	Het
Pcdhb11	T	C	18: 37,556,019 (GRCm39)	F450L	probably damaging	Het
Pelp1	T	C	11: 70,284,835 (GRCm39)	E1011G	unknown	Het
Pfkfb3	T	G	2: 11,486,109 (GRCm39)	R459S	probably benign	Het
Pgm1	T	C	4: 99,843,918 (GRCm39)	L567P	probably damaging	Het
Phf2	T	A	13: 48,971,292 (GRCm39)	D460V	unknown	Het
Polr1f	G	A	12: 33,479,723 (GRCm39)	G24R	possibly damaging	Het
Pou5f1	G	A	17: 35,819,731 (GRCm39)		probably benign	Het
Pou6f2	T	C	13: 18,299,848 (GRCm39)	R604G		Het
Pramel5	T	A	4: 143,999,545 (GRCm39)	I181F	probably benign	Het
Ptprc	T	C	1: 138,008,627 (GRCm39)	R687G	probably damaging	Het
Ptprz1	T	A	6: 23,007,292 (GRCm39)	H1618Q	probably damaging	Het
Qars1	G	A	9: 108,391,582 (GRCm39)	D618N	probably damaging	Het
Ripply3	A	G	16: 94,134,139 (GRCm39)	T68A	probably benign	Het
Rrad	A	G	8: 105,356,320 (GRCm39)	M160T	probably benign	Het
Rtn1	A	G	12: 72,350,961 (GRCm39)	V416A	probably damaging	Het
Rttn	A	G	18: 89,035,334 (GRCm39)	N736S	possibly damaging	Het
Sash1	A	T	10: 8,615,969 (GRCm39)	V631E	probably damaging	Het
Selenof	T	A	3: 144,283,370 (GRCm39)	F33L	probably benign	Het
Serpinb6b	A	T	13: 33,155,532 (GRCm39)	N82Y	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Shpk	G	T	11: 73,104,238 (GRCm39)	R129L	probably damaging	Het
Slc2a10	A	C	2: 165,358,176 (GRCm39)	I434L	probably damaging	Het
Slc30a6	G	T	17: 74,730,059 (GRCm39)	M316I	probably benign	Het
Sncaip	A	G	18: 53,039,726 (GRCm39)	E640G	probably damaging	Het
Sox7	G	A	14: 64,185,509 (GRCm39)	A182T	probably benign	Het
Spata31e5	T	A	1: 28,817,120 (GRCm39)	Y304F	probably benign	Het
Srcin1	A	G	11: 97,442,648 (GRCm39)	I60T	probably benign	Het
Srm	C	T	4: 148,676,039 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,689 (GRCm39)	M447K	possibly damaging	Het
Stam	A	T	2: 14,122,204 (GRCm39)	H101L	probably damaging	Het
Suz12	C	T	11: 79,915,748 (GRCm39)	T407M	possibly damaging	Het
Tbc1d10b	A	G	7: 126,807,036 (GRCm39)	V167A	probably benign	Het
Trav16	T	A	14: 53,980,910 (GRCm39)	V33E	possibly damaging	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ttc17	A	G	2: 94,209,097 (GRCm39)	V119A	probably damaging	Het
Ttc19	A	G	11: 62,203,997 (GRCm39)	I319M	probably benign	Het
Ttc6	A	G	12: 57,664,299 (GRCm39)	M351V	probably benign	Het
Ttn	G	A	2: 76,714,897 (GRCm39)	R8026*	probably null	Het
Ttn	A	T	2: 76,750,210 (GRCm39)	V3613E	probably benign	Het
Txndc16	T	C	14: 45,400,467 (GRCm39)	I345V	probably benign	Het
Ube3b	T	C	5: 114,553,370 (GRCm39)	I914T	probably benign	Het
Vmn1r73	T	C	7: 11,490,407 (GRCm39)	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,363,753 (GRCm39)	M380K	possibly damaging	Het
Zfp820	T	C	17: 22,038,107 (GRCm39)	Y407C	probably damaging	Het
Zic5	C	T	14: 122,701,787 (GRCm39)	A315T	unknown	Het
Zmiz1	C	A	14: 25,663,411 (GRCm39)	D1053E	unknown	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
R4465:Slx4	UTSW	16	3,806,919 (GRCm39)	missense	possibly damaging	0.82
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
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'- GGCTTTGGAAATGTTCATGATCTTC -3'
(R):5'- TGGCATCCCCAAGATCACTG -3'

Sequencing Primer
(F):5'- TGATCTTCTTCAACATCAATGACTG -3'
(R):5'- GGAGGGGCAGTAACATTGTCAC -3'

Posted On

2022-09-12