Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01757:Lig4'

153210

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lig4

Ensembl Gene

ENSMUSG00000049717

Gene Name

ligase IV, DNA, ATP-dependent

Synonyms

DNA ligase IV, 5830471N16Rik, tiny

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01757

Quality Score

Status

Chromosome

Chromosomal Location

9969049-9977686 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9971185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 865 (I865T)

Ref Sequence

ENSEMBL: ENSMUSP00000130807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095476] [ENSMUST00000170033]

AlphaFold

Q8BTF7

Predicted Effect

probably benign
Transcript: ENSMUST00000095476
AA Change: I865T

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093130
Gene: ENSMUSG00000049717
AA Change: I865T

Domain	Start	End	E-Value	Type
Pfam:DNA_ligase_A_N	14	209	1.3e-43	PFAM
Pfam:DNA_ligase_A_M	248	451	2e-50	PFAM
Pfam:DNA_ligase_A_C	476	588	3.3e-16	PFAM
BRCT	656	733	2.8e-14	SMART
Pfam:DNA_ligase_IV	749	784	7.3e-21	PFAM
BRCT	816	901	1.6e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170033
AA Change: I865T

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130807
Gene: ENSMUSG00000049717
AA Change: I865T

Domain	Start	End	E-Value	Type
Pfam:DNA_ligase_A_N	15	208	8.8e-39	PFAM
Pfam:DNA_ligase_A_M	248	451	2.3e-52	PFAM
Pfam:DNA_ligase_A_C	476	588	4.8e-18	PFAM
BRCT	656	733	2.9e-14	SMART
Pfam:DNA_ligase_IV	750	783	5.5e-17	PFAM
BRCT	816	901	1.6e-5	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null homozygotes die late in gestation with extensive CNS apoptosis, blocked lymphopoeiesis and failure of V(D)J joining. Carrier fibroblasts show elevated chromosome breaks. ~40% of homozygous hypomorphs survive, with retarded growth, reduced PBL and progressive loss of hematopoietic stem cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,990,281		probably benign	Het
Adamts9	T	C	6: 92,796,159	Y1789C	probably damaging	Het
Cdcp1	A	T	9: 123,180,001	Y537*	probably null	Het
Chic2	T	C	5: 75,006,767		probably benign	Het
Cpa5	G	A	6: 30,625,927		probably benign	Het
Csgalnact2	T	C	6: 118,129,346	R4G	probably damaging	Het
Dnah10	T	A	5: 124,768,927	V1510D	probably benign	Het
Dnm2	T	A	9: 21,465,619	F91L	probably damaging	Het
Eif2b1	T	C	5: 124,573,140	K189E	probably benign	Het
Fgf17	A	T	14: 70,636,980	L123Q	probably damaging	Het
Ifna15	T	C	4: 88,558,085	K54R	possibly damaging	Het
Isg15	A	G	4: 156,199,844	C76R	probably damaging	Het
Ldb2	A	T	5: 44,541,867		probably benign	Het
Lrrc46	T	C	11: 97,035,875	Y154C	probably damaging	Het
Lrrc8a	G	A	2: 30,255,525	R117H	possibly damaging	Het
Mrpl2	A	G	17: 46,648,257	I96V	probably damaging	Het
Mtif2	G	A	11: 29,541,337		probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Ptpn23	G	A	9: 110,391,636	R269W	probably damaging	Het
Senp2	T	C	16: 22,009,664	V8A	probably benign	Het
Slf1	T	C	13: 77,084,440	D515G	probably benign	Het
Spc25	G	A	2: 69,202,608	Q58*	probably null	Het
Sult2a5	T	C	7: 13,665,154	S229P	probably damaging	Het
Tfap2d	A	G	1: 19,104,580	T86A	probably benign	Het
Trp53bp1	A	G	2: 121,211,304	V1257A	probably damaging	Het
Wdr6	A	G	9: 108,576,228	V152A	possibly damaging	Het
Zdhhc7	A	G	8: 120,087,923	V49A	probably benign	Het
Zfp648	T	C	1: 154,204,925	S277P	probably damaging	Het

Other mutations in Lig4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Lig4	APN	8	9972775	missense	probably damaging	1.00
IGL00655:Lig4	APN	8	9973305	missense	probably benign	0.09
IGL01388:Lig4	APN	8	9973586	missense	probably damaging	1.00
IGL01669:Lig4	APN	8	9973673	missense	probably benign	0.01
IGL02115:Lig4	APN	8	9973247	missense	possibly damaging	0.58
IGL02167:Lig4	APN	8	9971821	missense	probably benign	0.06
IGL02239:Lig4	APN	8	9972473	missense	probably damaging	1.00
IGL02576:Lig4	APN	8	9971116	missense	probably damaging	1.00
IGL02955:Lig4	APN	8	9972103	missense	possibly damaging	0.95
IGL03056:Lig4	APN	8	9972580	missense	possibly damaging	0.90
nosegay	UTSW	8	9972954	missense	probably damaging	1.00
posey	UTSW	8	9972955	missense	probably damaging	1.00
posey2	UTSW	8	9971585	missense	probably benign
BB004:Lig4	UTSW	8	9973629	missense	possibly damaging	0.92
BB014:Lig4	UTSW	8	9973629	missense	possibly damaging	0.92
R0791:Lig4	UTSW	8	9973012	missense	possibly damaging	0.70
R1208:Lig4	UTSW	8	9971062	missense	probably damaging	1.00
R1208:Lig4	UTSW	8	9971062	missense	probably damaging	1.00
R1368:Lig4	UTSW	8	9971176	missense	possibly damaging	0.89
R1522:Lig4	UTSW	8	9973012	missense	possibly damaging	0.70
R1566:Lig4	UTSW	8	9973650	missense	probably benign	0.41
R1674:Lig4	UTSW	8	9971692	missense	probably benign	0.01
R2024:Lig4	UTSW	8	9972436	missense	probably damaging	1.00
R2025:Lig4	UTSW	8	9972436	missense	probably damaging	1.00
R2026:Lig4	UTSW	8	9972436	missense	probably damaging	1.00
R2155:Lig4	UTSW	8	9972766	missense	probably benign	0.00
R2243:Lig4	UTSW	8	9972161	missense	possibly damaging	0.81
R2917:Lig4	UTSW	8	9971596	missense	possibly damaging	0.56
R4763:Lig4	UTSW	8	9972955	missense	probably damaging	1.00
R4819:Lig4	UTSW	8	9971885	missense	probably benign
R5153:Lig4	UTSW	8	9973003	missense	possibly damaging	0.95
R5397:Lig4	UTSW	8	9972644	missense	probably benign	0.01
R5618:Lig4	UTSW	8	9972021	missense	probably benign
R6102:Lig4	UTSW	8	9972872	missense	probably damaging	1.00
R6210:Lig4	UTSW	8	9971585	missense	probably benign
R6312:Lig4	UTSW	8	9971739	missense	probably benign
R6955:Lig4	UTSW	8	9973384	missense	probably damaging	1.00
R6991:Lig4	UTSW	8	9971098	missense	probably damaging	0.99
R7207:Lig4	UTSW	8	9972101	nonsense	probably null
R7769:Lig4	UTSW	8	9973629	missense	possibly damaging	0.92
R7927:Lig4	UTSW	8	9973629	missense	possibly damaging	0.92
R8113:Lig4	UTSW	8	9973485	missense	probably benign	0.07
R8124:Lig4	UTSW	8	9972954	missense	probably damaging	1.00
R8382:Lig4	UTSW	8	9972346	missense	probably damaging	1.00
R8443:Lig4	UTSW	8	9973777	start codon destroyed	probably null	0.00
R8956:Lig4	UTSW	8	9971378	missense	probably benign
R9165:Lig4	UTSW	8	9972394	missense	probably damaging	1.00
R9170:Lig4	UTSW	8	9972202	missense	probably damaging	1.00
R9356:Lig4	UTSW	8	9972538	missense	possibly damaging	0.94
R9535:Lig4	UTSW	8	9972325	missense	probably damaging	1.00
R9672:Lig4	UTSW	8	9973213	missense	probably damaging	0.98

Posted On

2014-02-04