Mutagenetix > Incidental Mutation

Incidental Mutation 'R1937:Slx4'

213592

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

039955-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3796969-3821634 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 3805030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 105 (*105W)

Gene Model

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

AlphaFold

Q6P1D7

Predicted Effect

probably benign
Transcript: ENSMUST00000040790
AA Change: S595G

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038871
Gene: ENSMUSG00000039738
AA Change: S595G

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

noncoding transcript
Transcript: ENSMUST00000145706

Predicted Effect

probably null
Transcript: ENSMUST00000146569
AA Change: *105W

SMART Domains

Protein: ENSMUSP00000126423
Gene: ENSMUSG00000039738
AA Change: *105W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156542

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	A	5: 48,531,777 (GRCm39)	T35K	probably benign	Het
Abhd14a	A	G	9: 106,317,446 (GRCm39)		probably benign	Het
Abhd8	A	G	8: 71,914,506 (GRCm39)	F41L	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Actr5	T	C	2: 158,477,949 (GRCm39)	Y440H	possibly damaging	Het
Akr1c6	T	A	13: 4,496,383 (GRCm39)	N81K	probably benign	Het
Aqp11	T	A	7: 97,386,725 (GRCm39)	N157I	possibly damaging	Het
Arhgap10	T	C	8: 78,071,282 (GRCm39)	E568G	probably damaging	Het
Asb7	T	A	7: 66,329,001 (GRCm39)	Q13L	probably benign	Het
Atf7ip	C	A	6: 136,537,778 (GRCm39)	A345E	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bpifb4	A	T	2: 153,785,996 (GRCm39)	I259F	probably damaging	Het
Cand1	A	T	10: 119,038,925 (GRCm39)	D1218E	probably damaging	Het
Capg	A	G	6: 72,535,236 (GRCm39)		probably null	Het
Cep290	C	T	10: 100,333,815 (GRCm39)	T289M	possibly damaging	Het
Cfap69	T	C	5: 5,643,818 (GRCm39)	Y548C	probably damaging	Het
Cfap97d1	A	T	11: 101,877,989 (GRCm39)	H17L	probably damaging	Het
Cimip2b	T	A	4: 43,427,586 (GRCm39)	K220N	probably damaging	Het
Clock	A	G	5: 76,377,340 (GRCm39)	L652P	probably damaging	Het
Col3a1	C	T	1: 45,373,453 (GRCm39)		probably benign	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Crebrf	T	C	17: 26,961,442 (GRCm39)	S188P	probably damaging	Het
Crppa	G	A	12: 36,440,367 (GRCm39)	V92I	probably benign	Het
Cul1	T	C	6: 47,485,289 (GRCm39)	F307L	probably benign	Het
Cyb561d2	G	A	9: 107,417,515 (GRCm39)	R79W	probably damaging	Het
Cyp3a59	T	C	5: 146,031,187 (GRCm39)	S117P	possibly damaging	Het
Ddias	A	G	7: 92,507,830 (GRCm39)	I695T	probably benign	Het
Dhx29	G	A	13: 113,101,864 (GRCm39)	G1311D	probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Ece2	T	A	16: 20,436,616 (GRCm39)	V146E	probably damaging	Het
Eml2	A	G	7: 18,937,889 (GRCm39)	K586E	possibly damaging	Het
Eps8l3	A	G	3: 107,791,708 (GRCm39)	E316G	probably benign	Het
Fam135b	A	T	15: 71,493,863 (GRCm39)	L22H	probably damaging	Het
Focad	T	A	4: 88,319,318 (GRCm39)	M1K	probably null	Het
Fryl	A	G	5: 73,290,710 (GRCm39)	S65P	probably damaging	Het
Gm14190	C	T	11: 99,581,556 (GRCm39)	C4Y	unknown	Het
H2-T5	T	A	17: 36,478,899 (GRCm39)	T117S	probably damaging	Het
Ift74	T	A	4: 94,550,883 (GRCm39)	M345K	probably benign	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Kcng1	T	C	2: 168,104,941 (GRCm39)	T302A	probably benign	Het
Kif20b	T	C	19: 34,930,278 (GRCm39)	V1221A	possibly damaging	Het
Kif23	A	T	9: 61,853,892 (GRCm39)		probably null	Het
Lpxn	T	G	19: 12,802,274 (GRCm39)	S200A	probably benign	Het
Meiob	A	G	17: 25,037,305 (GRCm39)	H61R	probably benign	Het
Mfhas1	C	T	8: 36,056,799 (GRCm39)	L425F	probably damaging	Het
Myo3a	A	T	2: 22,401,126 (GRCm39)	S632C	probably damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nbeal1	T	A	1: 60,307,100 (GRCm39)	Y374*	probably null	Het
Notch3	T	C	17: 32,372,826 (GRCm39)	S582G	probably benign	Het
Nphs1	A	T	7: 30,173,798 (GRCm39)	Q985L	probably damaging	Het
Oas1c	T	A	5: 120,941,049 (GRCm39)	H248L	probably benign	Het
Or5c1	A	T	2: 37,221,896 (GRCm39)	N46Y	probably damaging	Het
Or5g26	T	C	2: 85,494,341 (GRCm39)	I146V	probably benign	Het
Or5h25	A	T	16: 58,930,157 (GRCm39)	M272K	probably benign	Het
Or8g35	A	G	9: 39,381,333 (GRCm39)	S230P	possibly damaging	Het
Pamr1	A	T	2: 102,472,617 (GRCm39)	I639F	possibly damaging	Het
Panx1	G	T	9: 14,918,980 (GRCm39)	T293K	possibly damaging	Het
Papss1	G	T	3: 131,305,632 (GRCm39)	V226F	probably benign	Het
Pax1	G	T	2: 147,209,809 (GRCm39)	G301V	possibly damaging	Het
Pdlim5	C	A	3: 141,950,742 (GRCm39)	R557L	possibly damaging	Het
Pdyn	C	A	2: 129,531,729 (GRCm39)	M20I	probably benign	Het
Pelp1	G	A	11: 70,284,541 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,626,790 (GRCm39)	V324A	probably damaging	Het
Pkdrej	A	G	15: 85,703,368 (GRCm39)	I856T	probably benign	Het
Polr1a	T	C	6: 71,913,536 (GRCm39)		probably null	Het
Pot1a	A	T	6: 25,753,323 (GRCm39)	D404E	probably benign	Het
Ppp2r2a	A	T	14: 67,253,878 (GRCm39)	I430N	possibly damaging	Het
Prob1	C	T	18: 35,787,279 (GRCm39)	R325Q	possibly damaging	Het
Prrc2a	T	C	17: 35,376,884 (GRCm39)	D742G	probably damaging	Het
Psmc1	C	T	12: 100,081,102 (GRCm39)	P54S	probably benign	Het
Rab22a	A	G	2: 173,530,004 (GRCm39)	T61A	probably damaging	Het
Rims1	T	A	1: 22,358,754 (GRCm39)	K184N	probably damaging	Het
Rnf213	G	A	11: 119,322,511 (GRCm39)	R1376H	probably damaging	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Serpina1b	T	C	12: 103,698,420 (GRCm39)	K143R	probably benign	Het
Slc22a15	T	G	3: 101,787,505 (GRCm39)		probably null	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a48	A	C	13: 56,596,811 (GRCm39)	T31P	probably damaging	Het
Slc9a3	C	T	13: 74,314,175 (GRCm39)		probably null	Het
Smc6	A	G	12: 11,349,399 (GRCm39)	N794S	probably benign	Het
Spata18	G	A	5: 73,834,307 (GRCm39)	R387Q	probably damaging	Het
Sphkap	C	A	1: 83,245,162 (GRCm39)	E1486*	probably null	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St8sia1	C	T	6: 142,909,398 (GRCm39)	A33T	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Tmem144	G	T	3: 79,732,611 (GRCm39)	S222R	probably damaging	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Top1	A	T	2: 160,512,042 (GRCm39)	K27N	unknown	Het
Tox2	A	G	2: 163,067,476 (GRCm39)	H30R	probably benign	Het
Tra2b	T	C	16: 22,065,993 (GRCm39)		probably benign	Het
Trio	A	T	15: 27,833,142 (GRCm39)	V1165E	probably damaging	Het
Troap	T	A	15: 98,975,269 (GRCm39)	S145R	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttc6	C	T	12: 57,663,109 (GRCm39)	P302S	probably benign	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ugt2b35	G	T	5: 87,149,141 (GRCm39)	V131F	probably damaging	Het
Utp25	A	T	1: 192,804,401 (GRCm39)	D200E	probably damaging	Het
Vmn1r167	G	A	7: 23,204,452 (GRCm39)	T188I	probably benign	Het
Vmn1r46	G	T	6: 89,953,716 (GRCm39)	M188I	probably benign	Het
Vmn2r115	T	A	17: 23,578,388 (GRCm39)	N620K	probably damaging	Het
Vmn2r66	A	G	7: 84,644,344 (GRCm39)	S689P	probably damaging	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zbtb16	T	C	9: 48,571,078 (GRCm39)	S563G	probably benign	Het
Zfp319	T	C	8: 96,055,199 (GRCm39)	T335A	probably damaging	Het
Zfp418	A	G	7: 7,185,401 (GRCm39)	R455G	possibly damaging	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
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
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'- CTCTTCTTCACAGAGCTCAGG -3'
(R):5'- CTGTGATTGCCAGCTGAGTC -3'

Sequencing Primer
(F):5'- TCACAGAGCTCAGGTTTCAG -3'
(R):5'- TGAGTCTGACGCACCTTCAG -3'

Posted On

2014-07-14