Mutagenetix > Incidental Mutation

Incidental Mutation 'R9731:Sprtn'

731403

Institutional Source

Beutler Lab

Gene Symbol

Sprtn

Ensembl Gene

ENSMUSG00000031986

Gene Name

SprT-like N-terminal domain

Synonyms

Gm505, LOC244666

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R9731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125624625-125632900 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 125629704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 332 (Y332*)

Ref Sequence

ENSEMBL: ENSMUSP00000034467 (fasta)

Gene Model

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

AlphaFold

G3X912

Predicted Effect

probably null
Transcript: ENSMUST00000034467
AA Change: Y332*

SMART Domains

Protein: ENSMUSP00000034467
Gene: ENSMUSG00000031986
AA Change: Y332*

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	G	4: 109,362,918 (GRCm39)	S134R	probably damaging	Het
A930033H14Rik	T	A	10: 69,048,679 (GRCm39)	R53W	unknown	Het
Abca9	G	T	11: 110,025,024 (GRCm39)	D1006E	probably benign	Het
Abcc6	T	A	7: 45,669,660 (GRCm39)	R132*	probably null	Het
Ankrd40	C	T	11: 94,229,250 (GRCm39)	T283I	probably damaging	Het
Atr	A	G	9: 95,747,092 (GRCm39)	K125E	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cep290	A	T	10: 100,346,404 (GRCm39)	L527F	probably damaging	Het
Cep295	T	C	9: 15,245,262 (GRCm39)	N1065D	possibly damaging	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Ddx54	C	T	5: 120,758,807 (GRCm39)	A350V	probably benign	Het
Defb23	C	T	2: 152,301,333 (GRCm39)	V80I	probably benign	Het
Dennd5b	G	A	6: 148,970,138 (GRCm39)	T127I	probably damaging	Het
Dnah6	G	T	6: 73,168,589 (GRCm39)	Q445K	probably benign	Het
Dync2h1	T	C	9: 7,141,166 (GRCm39)	H1287R	probably benign	Het
Enpp7	G	A	11: 118,879,151 (GRCm39)	G37R	probably damaging	Het
Exoc2	T	C	13: 31,061,233 (GRCm39)	T554A	probably benign	Het
Fgf8	T	C	19: 45,730,846 (GRCm39)	N60D	probably benign	Het
Gdi2	A	G	13: 3,588,299 (GRCm39)	M1V	probably null	Het
Glra3	G	T	8: 56,542,058 (GRCm39)	R267L	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,598 (GRCm39)	R1455H	probably damaging	Het
Grk6	C	A	13: 55,607,640 (GRCm39)	P575T	possibly damaging	Het
Hpgd	A	T	8: 56,751,391 (GRCm39)	D73V	probably benign	Het
Hpse	G	A	5: 100,842,022 (GRCm39)	H288Y	probably damaging	Het
Hpse2	G	A	19: 42,794,826 (GRCm39)	R506*	probably null	Het
Ing1	C	A	8: 11,611,649 (GRCm39)	T123N	probably benign	Het
Kdm2b	T	C	5: 123,125,823 (GRCm39)	D27G	probably benign	Het
Kmt2c	A	T	5: 25,577,956 (GRCm39)	D773E	probably benign	Het
Lrrc7	T	C	3: 157,880,888 (GRCm39)	D516G	probably benign	Het
Lrsam1	A	G	2: 32,835,452 (GRCm39)		probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Meak7	C	A	8: 120,498,010 (GRCm39)	A165S	probably benign	Het
Ndufaf3	T	C	9: 108,443,158 (GRCm39)	*186W	probably null	Het
Ndufaf5	C	T	2: 140,012,807 (GRCm39)	A59V	possibly damaging	Het
Nphp3	T	C	9: 103,886,369 (GRCm39)	L281S	probably damaging	Het
Or10a4	T	G	7: 106,696,786 (GRCm39)	V38G	probably benign	Het
Or4c12	T	A	2: 89,774,316 (GRCm39)	I48F	possibly damaging	Het
Or8b37	A	T	9: 37,958,892 (GRCm39)	I125F	probably damaging	Het
Otogl	G	T	10: 107,735,328 (GRCm39)	T152K	probably damaging	Het
Oxgr1	C	T	14: 120,260,094 (GRCm39)	V38I	probably benign	Het
Polr2a	G	A	11: 69,638,043 (GRCm39)	T142M	possibly damaging	Het
Pou6f1	C	T	15: 100,476,206 (GRCm39)	R560Q	possibly damaging	Het
Ptgr3	T	G	18: 84,113,128 (GRCm39)	V268G	probably damaging	Het
Rbm33	A	G	5: 28,544,242 (GRCm39)	E166G	probably damaging	Het
Rgs14	T	A	13: 55,528,784 (GRCm39)	Y308*	probably null	Het
Rpl10a	T	C	17: 28,547,594 (GRCm39)		probably benign	Het
Rras2	A	C	7: 113,659,593 (GRCm39)	I57S	probably damaging	Het
Scn1b	C	T	7: 30,824,596 (GRCm39)	V31M	probably damaging	Het
Sema6d	G	A	2: 124,506,117 (GRCm39)	A642T	probably damaging	Het
Sis	T	A	3: 72,835,543 (GRCm39)	T940S	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc22a27	G	A	19: 7,904,126 (GRCm39)	Q4*	probably null	Het
Slc44a2	T	A	9: 21,263,770 (GRCm39)	I646N	possibly damaging	Het
Srpk1	A	G	17: 28,825,297 (GRCm39)	I125T	probably damaging	Het
Sv2b	G	A	7: 74,786,068 (GRCm39)	H451Y	probably benign	Het
Tec	G	A	5: 72,939,439 (GRCm39)	T192M	probably benign	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trim25	C	A	11: 88,906,391 (GRCm39)	P405T	probably benign	Het
Trpm4	T	C	7: 44,958,054 (GRCm39)	D952G	probably damaging	Het
Tsc1	A	G	2: 28,566,486 (GRCm39)	D635G	probably benign	Het
Ttc7b	T	C	12: 100,461,683 (GRCm39)	E98G	possibly damaging	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Usp19	T	A	9: 108,376,885 (GRCm39)	S1153T	probably damaging	Het
Vmn2r63	A	T	7: 42,553,361 (GRCm39)	L632M	probably benign	Het
Vps13c	C	T	9: 67,826,526 (GRCm39)	T1389I	probably benign	Het
Wasf1	T	A	10: 40,806,731 (GRCm39)	Y125N	probably 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
IGL02740:Sprtn	APN	8	125,625,042 (GRCm39)	missense	probably damaging	1.00
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
Z1177:Sprtn	UTSW	8	125,625,089 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAAGCTGAACACCTCATAC -3'
(R):5'- ATATGGTTGCGGATGTCCCAG -3'

Sequencing Primer
(F):5'- CATGGTTAATGAAGCCAAAGGTCTC -3'
(R):5'- ATGTCCCAGCTGCAGATGTCAC -3'

Posted On

2022-11-14