Mutagenetix > Incidental Mutation

Incidental Mutation 'R2038:Sfpq'

225285

Institutional Source

Beutler Lab

Gene Symbol

Sfpq

Ensembl Gene

ENSMUSG00000028820

Gene Name

splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated)

Synonyms

1110004P21Rik, 5730453G22Rik, 9030402K04Rik, 2810416M14Rik, PSF, REP1, D4Ertd314e

MMRRC Submission

040045-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2038 (G1)

Quality Score

122

Status

Not validated

Chromosome

Chromosomal Location

126915117-126930806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126915295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 29 (H29L)

Ref Sequence

ENSEMBL: ENSMUSP00000030623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030623]

AlphaFold

Q8VIJ6

Predicted Effect

unknown
Transcript: ENSMUST00000030623
AA Change: H29L

SMART Domains

Protein: ENSMUSP00000030623
Gene: ENSMUSG00000028820
AA Change: H29L

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
low complexity region	48	101	N/A	INTRINSIC
low complexity region	105	236	N/A	INTRINSIC
low complexity region	238	258	N/A	INTRINSIC
RRM	290	357	3.97e-18	SMART
RRM	364	440	3.83e-11	SMART
low complexity region	526	544	N/A	INTRINSIC
low complexity region	554	587	N/A	INTRINSIC
low complexity region	595	614	N/A	INTRINSIC
low complexity region	617	639	N/A	INTRINSIC
low complexity region	660	680	N/A	INTRINSIC
low complexity region	682	692	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146285

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele die. Heterozygous mice show abnormality in entrainment of circadian rhythm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,389,762 (GRCm39)	Y54C	probably damaging	Het
Adgrf4	A	T	17: 42,978,754 (GRCm39)	H196Q	probably damaging	Het
Astn1	T	G	1: 158,484,690 (GRCm39)	S918A	probably benign	Het
Cd79a	A	T	7: 24,598,782 (GRCm39)	K110N	probably benign	Het
Cdc34b	C	T	11: 94,633,114 (GRCm39)	Q105*	probably null	Het
Cdh23	T	C	10: 60,148,366 (GRCm39)	D2667G	probably damaging	Het
Clpx	G	A	9: 65,224,775 (GRCm39)	G168R	probably damaging	Het
Col8a2	T	C	4: 126,205,108 (GRCm39)		probably benign	Het
Ddx27	G	A	2: 166,875,675 (GRCm39)	E669K	probably damaging	Het
Dnah8	A	T	17: 30,977,255 (GRCm39)	I2898F	probably damaging	Het
Dus2	T	C	8: 106,775,294 (GRCm39)	Y274H	probably damaging	Het
Dync2h1	A	G	9: 6,967,226 (GRCm39)	S4073P	probably damaging	Het
Dynlrb2	G	A	8: 117,241,549 (GRCm39)	R31Q	possibly damaging	Het
Esyt1	C	T	10: 128,347,820 (GRCm39)	V957I	probably benign	Het
Fhdc1	A	T	3: 84,351,868 (GRCm39)	L1119Q	probably benign	Het
H2-T10	T	C	17: 36,430,317 (GRCm39)	K212E	probably benign	Het
H60b	A	T	10: 22,162,114 (GRCm39)	N113I	probably benign	Het
Hace1	A	C	10: 45,576,721 (GRCm39)	K798Q	probably benign	Het
Hdac7	C	T	15: 97,696,151 (GRCm39)	R631H	probably damaging	Het
Kat7	T	A	11: 95,190,928 (GRCm39)	I153F	probably benign	Het
Lman1	T	C	18: 66,131,681 (GRCm39)	T101A	probably benign	Het
Mapk8	A	T	14: 33,110,893 (GRCm39)	C245*	probably null	Het
Mfhas1	T	A	8: 36,058,431 (GRCm39)	W969R	probably damaging	Het
Mlxipl	A	T	5: 135,135,853 (GRCm39)	D26V	probably damaging	Het
Msh5	A	G	17: 35,265,016 (GRCm39)	V53A	probably benign	Het
Msl2	C	A	9: 100,979,183 (GRCm39)	A519D	probably damaging	Het
Nbeal1	A	G	1: 60,245,503 (GRCm39)	S176G	probably benign	Het
Ninl	T	A	2: 150,817,763 (GRCm39)	K134*	probably null	Het
Or10d1	A	G	9: 39,484,283 (GRCm39)	S91P	probably damaging	Het
Or1e25	T	A	11: 73,494,239 (GRCm39)	Y278N	probably damaging	Het
Or4a68	C	A	2: 89,269,689 (GRCm39)	M311I	probably benign	Het
Pabpn1	T	G	14: 55,134,609 (GRCm39)	I250S	probably damaging	Het
Ppp4r4	G	A	12: 103,542,539 (GRCm39)		probably null	Het
Rad51ap2	T	C	12: 11,507,025 (GRCm39)	S316P	possibly damaging	Het
Scn7a	C	A	2: 66,567,780 (GRCm39)	W271C	probably damaging	Het
Set	T	C	2: 29,960,212 (GRCm39)	S182P	probably benign	Het
Sez6l	T	C	5: 112,620,618 (GRCm39)	T321A	possibly damaging	Het
Slc33a1	A	G	3: 63,855,577 (GRCm39)	L356P	probably damaging	Het
Sptbn1	C	G	11: 30,109,293 (GRCm39)		probably null	Het
Srrd	C	T	5: 112,486,316 (GRCm39)	G179D	probably benign	Het
Taf4b	T	C	18: 14,940,456 (GRCm39)	S312P	probably damaging	Het
Tgfbrap1	A	T	1: 43,093,794 (GRCm39)	L566*	probably null	Het
Tln2	T	A	9: 67,304,935 (GRCm39)	M1L	probably benign	Het
Ttc27	T	C	17: 75,163,497 (GRCm39)	F702L	probably benign	Het
Vmn2r54	C	T	7: 12,363,637 (GRCm39)	G419R	possibly damaging	Het
Vps13b	A	G	15: 35,884,887 (GRCm39)	S3187G	probably damaging	Het
Vps13d	C	A	4: 144,907,685 (GRCm39)		probably null	Het
Vps35l	T	C	7: 118,411,097 (GRCm39)	F677L	probably damaging	Het
Zfp568	A	T	7: 29,688,507 (GRCm39)	E23V	probably null	Het

Other mutations in Sfpq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Sfpq	APN	4	126,917,481 (GRCm39)	missense	possibly damaging	0.80
IGL00578:Sfpq	APN	4	126,919,700 (GRCm39)	missense	probably damaging	1.00
IGL01301:Sfpq	APN	4	126,920,553 (GRCm39)	splice site	probably benign
IGL02385:Sfpq	APN	4	126,919,929 (GRCm39)	splice site	probably null
IGL03373:Sfpq	APN	4	126,920,578 (GRCm39)	missense	possibly damaging	0.92
R0645:Sfpq	UTSW	4	126,916,762 (GRCm39)	missense	possibly damaging	0.75
R3120:Sfpq	UTSW	4	126,915,926 (GRCm39)	missense	unknown
R4609:Sfpq	UTSW	4	126,915,404 (GRCm39)	missense	unknown
R4788:Sfpq	UTSW	4	126,919,791 (GRCm39)	missense	probably damaging	1.00
R5034:Sfpq	UTSW	4	126,917,462 (GRCm39)	splice site	probably benign
R5411:Sfpq	UTSW	4	126,915,516 (GRCm39)	missense	unknown
R6115:Sfpq	UTSW	4	126,915,141 (GRCm39)	start gained	probably null
R6906:Sfpq	UTSW	4	126,915,419 (GRCm39)	small deletion	probably benign
R6907:Sfpq	UTSW	4	126,915,419 (GRCm39)	small deletion	probably benign
R6908:Sfpq	UTSW	4	126,915,419 (GRCm39)	small deletion	probably benign
R6929:Sfpq	UTSW	4	126,915,419 (GRCm39)	small deletion	probably benign
R6933:Sfpq	UTSW	4	126,915,419 (GRCm39)	small deletion	probably benign
R7029:Sfpq	UTSW	4	126,923,675 (GRCm39)	missense	probably benign	0.23
R7124:Sfpq	UTSW	4	126,919,725 (GRCm39)	missense	possibly damaging	0.50
R8752:Sfpq	UTSW	4	126,919,969 (GRCm39)	missense	possibly damaging	0.47
R9041:Sfpq	UTSW	4	126,915,296 (GRCm39)	missense	unknown
R9111:Sfpq	UTSW	4	126,915,401 (GRCm39)	small deletion	probably benign
R9125:Sfpq	UTSW	4	126,915,633 (GRCm39)	missense	unknown
R9288:Sfpq	UTSW	4	126,916,627 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CATTTTGTGCTCAGCAAGGT -3'
(R):5'- GCATCTTGCCGCCTTTTGGA -3'

Sequencing Primer
(F):5'- TGCTCAGCAAGGTGGCAAC -3'
(R):5'- ACGACGGGCTTGGATTCCTG -3'

Posted On

2014-08-25