Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02740:Sprtn'

305862

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sprtn

Ensembl Gene

ENSMUSG00000031986

Gene Name

SprT-like N-terminal domain

Synonyms

Gm505, LOC244666

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

IGL02740

Quality Score

Status

Chromosome

Chromosomal Location

125624625-125632900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125625042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 49 (L49P)

Ref Sequence

ENSEMBL: ENSMUSP00000034467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034467] [ENSMUST00000098312]

AlphaFold

G3X912

Predicted Effect

probably damaging
Transcript: ENSMUST00000034467
AA Change: L49P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034467
Gene: ENSMUSG00000031986
AA Change: L49P

Domain	Start	End	E-Value	Type
SprT	44	213	4.39e-72	SMART
low complexity region	383	405	N/A	INTRINSIC
low complexity region	442	462	N/A	INTRINSIC
Blast:ZnF_Rad18	463	485	8e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000098312

SMART Domains

Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030

Domain	Start	End	E-Value	Type
Pfam:Vps51	13	99	7.1e-21	PFAM
PH	174	275	2.07e-6	SMART
low complexity region	279	294	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
Pfam:Exo84_C	326	531	6.8e-59	PFAM
low complexity region	633	646	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213052

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 may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele exhibit symptoms of progeria (lordokyphosis, cataracts, cachexia, reduced total fat mass and decreased exercise performance). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	C	T	1: 59,209,078 (GRCm39)	E1494K	probably benign	Het
Antxr2	A	G	5: 98,178,251 (GRCm39)		probably benign	Het
Arhgap23	A	C	11: 97,365,843 (GRCm39)	K998Q	probably damaging	Het
Bap1	A	G	14: 30,978,729 (GRCm39)	N47D	possibly damaging	Het
Carmil1	A	G	13: 24,278,501 (GRCm39)	I156T	probably damaging	Het
Ccdc141	T	C	2: 76,884,953 (GRCm39)	T563A	probably benign	Het
Cct7	T	C	6: 85,445,252 (GRCm39)	F501S	probably benign	Het
Cd59b	A	G	2: 103,909,242 (GRCm39)	I8V	probably benign	Het
Cep135	T	C	5: 76,786,115 (GRCm39)		probably null	Het
Cep170	T	G	1: 176,621,166 (GRCm39)	T4P	probably damaging	Het
Chaf1a	G	T	17: 56,374,500 (GRCm39)	G896W	probably damaging	Het
Cpt1b	A	T	15: 89,308,535 (GRCm39)	L131Q	probably damaging	Het
Dcaf13	C	T	15: 39,008,495 (GRCm39)	R366*	probably null	Het
Ddr2	A	T	1: 169,812,514 (GRCm39)	N659K	probably damaging	Het
Dmrt2	C	A	19: 25,655,837 (GRCm39)	L479I	possibly damaging	Het
Dnah10	A	G	5: 124,903,927 (GRCm39)		probably benign	Het
Dsg3	C	T	18: 20,660,765 (GRCm39)	T368M	possibly damaging	Het
Dspp	C	A	5: 104,325,104 (GRCm39)	S489*	probably null	Het
Eed	A	C	7: 89,621,464 (GRCm39)	V112G	possibly damaging	Het
Ehmt1	T	A	2: 24,705,851 (GRCm39)		probably benign	Het
Elavl3	T	C	9: 21,947,675 (GRCm39)	D89G	probably benign	Het
Ercc5	T	C	1: 44,206,652 (GRCm39)	S522P	probably benign	Het
Esrrg	T	C	1: 187,930,938 (GRCm39)	L320P	probably benign	Het
Gadl1	T	A	9: 115,835,629 (GRCm39)	Y352*	probably null	Het
Gemin5	G	A	11: 58,042,390 (GRCm39)	A477V	probably damaging	Het
Gm3086	A	T	12: 70,016,095 (GRCm39)		probably benign	Het
Gm8082	C	T	14: 42,846,570 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,377,161 (GRCm39)	L54P	probably damaging	Het
Gpsm1	G	A	2: 26,230,585 (GRCm39)	V512M	probably benign	Het
Ighv5-4	A	G	12: 113,561,100 (GRCm39)	S107P	probably damaging	Het
Irak4	T	C	15: 94,464,925 (GRCm39)	*460Q	probably null	Het
Nfkbiz	G	T	16: 55,638,317 (GRCm39)	T381N	probably benign	Het
Or1e25	A	T	11: 73,493,657 (GRCm39)	N84Y	probably benign	Het
Or5d39	T	A	2: 87,979,601 (GRCm39)	H254L	probably damaging	Het
Or8b46	T	C	9: 38,450,226 (GRCm39)	F12L	probably damaging	Het
Or8g23	T	C	9: 38,971,585 (GRCm39)	I126V	probably benign	Het
Pou2f1	G	A	1: 165,710,685 (GRCm39)	Q523*	probably null	Het
Ptcra	A	G	17: 47,069,473 (GRCm39)	S133P	probably damaging	Het
Ptgfrn	A	T	3: 100,980,253 (GRCm39)	D362E	possibly damaging	Het
Rbm33	A	T	5: 28,536,121 (GRCm39)	D19V	probably damaging	Het
Rnf4	T	A	5: 34,506,898 (GRCm39)	V74D	possibly damaging	Het
Rprd1b	A	G	2: 157,889,899 (GRCm39)	D7G	probably damaging	Het
Rrp1b	A	G	17: 32,278,305 (GRCm39)	T659A	probably damaging	Het
Scaf11	T	C	15: 96,316,883 (GRCm39)	N894D	probably benign	Het
Scn1a	G	A	2: 66,155,106 (GRCm39)	R618C	probably damaging	Het
Scn1a	A	T	2: 66,148,421 (GRCm39)	D1041E	probably benign	Het
Slc43a1	G	T	2: 84,690,094 (GRCm39)	A424S	probably damaging	Het
Sv2a	G	T	3: 96,092,723 (GRCm39)	R141L	possibly damaging	Het
Thsd7b	C	T	1: 129,540,864 (GRCm39)	S246F	probably damaging	Het
Tmem117	A	T	15: 94,612,863 (GRCm39)	D133V	probably benign	Het
Tnn	A	T	1: 159,968,347 (GRCm39)		probably benign	Het
Triobp	G	A	15: 78,850,889 (GRCm39)	V348I	probably benign	Het
Trps1	A	T	15: 50,709,935 (GRCm39)	D134E	probably damaging	Het
Ttn	T	C	2: 76,598,162 (GRCm39)	I19584V	probably benign	Het
Uqcrfs1	T	C	13: 30,725,006 (GRCm39)	H178R	probably damaging	Het
Ush2a	A	T	1: 188,380,585 (GRCm39)	Q2298L	possibly damaging	Het
Vmn2r67	A	G	7: 84,785,818 (GRCm39)	I729T	probably damaging	Het
Vmn2r79	A	T	7: 86,653,366 (GRCm39)	M544L	probably benign	Het
Vps41	T	A	13: 19,022,850 (GRCm39)	L404Q	probably damaging	Het
Xrcc5	T	G	1: 72,379,240 (GRCm39)		probably null	Het
Zfp735	A	G	11: 73,601,412 (GRCm39)	K119E	possibly damaging	Het

Other mutations in Sprtn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Sprtn	APN	8	125,627,037 (GRCm39)	missense	probably damaging	1.00
IGL02735:Sprtn	APN	8	125,630,126 (GRCm39)	missense	probably benign	0.03
IGL03234:Sprtn	APN	8	125,629,888 (GRCm39)	missense	possibly damaging	0.79
R0600:Sprtn	UTSW	8	125,626,957 (GRCm39)	missense	probably damaging	1.00
R1718:Sprtn	UTSW	8	125,625,096 (GRCm39)	missense	probably damaging	1.00
R1719:Sprtn	UTSW	8	125,628,372 (GRCm39)	missense	probably damaging	1.00
R1808:Sprtn	UTSW	8	125,629,770 (GRCm39)	missense	probably benign	0.03
R6390:Sprtn	UTSW	8	125,629,958 (GRCm39)	missense	probably benign	0.01
R6474:Sprtn	UTSW	8	125,625,873 (GRCm39)	nonsense	probably null
R7163:Sprtn	UTSW	8	125,625,044 (GRCm39)	missense	probably damaging	1.00
R7239:Sprtn	UTSW	8	125,626,983 (GRCm39)	missense	probably damaging	0.99
R7779:Sprtn	UTSW	8	125,624,982 (GRCm39)	missense	possibly damaging	0.94
R8321:Sprtn	UTSW	8	125,629,994 (GRCm39)	missense	possibly damaging	0.51
R8493:Sprtn	UTSW	8	125,629,933 (GRCm39)	missense	probably benign	0.01
R9731:Sprtn	UTSW	8	125,629,704 (GRCm39)	nonsense	probably null
Z1177:Sprtn	UTSW	8	125,625,089 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16