Mutagenetix > Incidental Mutation

Incidental Mutation 'R1828:Sfswap'

207003

Institutional Source

Beutler Lab

Gene Symbol

Sfswap

Ensembl Gene

ENSMUSG00000029439

Gene Name

splicing factor SWAP

Synonyms

Sfrs8, 1190005N23Rik, 6330437E22Rik

MMRRC Submission

039855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129578286-129648448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129590148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 215 (T215I)

Ref Sequence

ENSEMBL: ENSMUSP00000062413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053737] [ENSMUST00000196698]

AlphaFold

Q3USH5

Predicted Effect

probably damaging
Transcript: ENSMUST00000053737
AA Change: T215I

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

SMART Domains

Protein: ENSMUSP00000062413
Gene: ENSMUSG00000029439
AA Change: T215I

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
DRY_EERY	33	157	1.15e-57	SMART
low complexity region	160	170	N/A	INTRINSIC
low complexity region	174	186	N/A	INTRINSIC
SWAP	209	262	3.94e-19	SMART
low complexity region	286	293	N/A	INTRINSIC
low complexity region	333	352	N/A	INTRINSIC
low complexity region	397	441	N/A	INTRINSIC
SWAP	456	507	9.55e-18	SMART
low complexity region	513	532	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
low complexity region	598	607	N/A	INTRINSIC
coiled coil region	631	686	N/A	INTRINSIC
low complexity region	741	788	N/A	INTRINSIC
low complexity region	797	821	N/A	INTRINSIC
low complexity region	840	865	N/A	INTRINSIC
low complexity region	871	888	N/A	INTRINSIC
low complexity region	889	905	N/A	INTRINSIC
low complexity region	909	920	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196698

SMART Domains

Protein: ENSMUSP00000142464
Gene: ENSMUSG00000029439

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
DRY_EERY	33	121	1.8e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200662

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit a wobbly phenotype with inner ear defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,190,962 (GRCm39)	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,536,065 (GRCm39)		noncoding transcript	Het
Abca3	A	G	17: 24,585,171 (GRCm39)	D144G	probably benign	Het
Anxa2	T	A	9: 69,390,260 (GRCm39)	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,512,732 (GRCm39)	I267N	probably damaging	Het
Asb14	A	T	14: 26,633,797 (GRCm39)	D334V	possibly damaging	Het
Batf3	A	G	1: 190,830,714 (GRCm39)	N20S	probably benign	Het
Bub1b	A	G	2: 118,468,920 (GRCm39)	H895R	probably benign	Het
C1qtnf12	G	A	4: 156,050,160 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,130,385 (GRCm39)	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,084,462 (GRCm39)	A527T	probably damaging	Het
Ccdc168	A	T	1: 44,096,234 (GRCm39)	N1621K	possibly damaging	Het
Ccdc92	T	C	5: 124,913,242 (GRCm39)	N96D	probably benign	Het
Ceacam18	T	A	7: 43,288,880 (GRCm39)	D210E	probably benign	Het
Cenpe	A	G	3: 134,952,257 (GRCm39)	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,440,932 (GRCm39)		probably null	Het
Cimip4	T	C	15: 78,270,588 (GRCm39)	Y60C	possibly damaging	Het
Cldn19	A	G	4: 119,112,990 (GRCm39)	D74G	probably benign	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,811,397 (GRCm39)	Q78L	probably benign	Het
Crot	T	C	5: 9,019,080 (GRCm39)	N491S	probably benign	Het
Cspg4b	T	A	13: 113,505,342 (GRCm39)	L2157Q	probably damaging	Het
Ctr9	A	G	7: 110,643,165 (GRCm39)		probably null	Het
Cyp4f14	T	G	17: 33,130,209 (GRCm39)	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240 (GRCm39)	V191I	probably benign	Het
Dnah10	A	T	5: 124,838,343 (GRCm39)	N1124I	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Epdr1	G	A	13: 19,778,773 (GRCm39)	Q6*	probably null	Het
Erbin	A	G	13: 103,996,577 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,525,217 (GRCm39)	I436K	probably damaging	Het
Exph5	A	T	9: 53,287,941 (GRCm39)	Q1674L	possibly damaging	Het
Fat4	A	T	3: 39,037,607 (GRCm39)	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,174,098 (GRCm39)	V763A	probably damaging	Het
Golim4	G	A	3: 75,809,745 (GRCm39)	T216I	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,245,143 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,469,694 (GRCm39)	Y70C	probably damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hecw2	T	C	1: 53,965,182 (GRCm39)	D548G	probably benign	Het
Hr	G	A	14: 70,809,477 (GRCm39)		probably null	Het
Hrg	A	C	16: 22,774,853 (GRCm39)	E161A	probably damaging	Het
Hydin	A	T	8: 111,237,526 (GRCm39)	N1933I	probably benign	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,570,252 (GRCm39)		probably null	Het
Mgat5b	C	A	11: 116,868,614 (GRCm39)	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,502,943 (GRCm39)	V999A	probably benign	Het
Mttp	G	T	3: 137,813,041 (GRCm39)	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nexn	A	G	3: 151,948,405 (GRCm39)	I386T	probably damaging	Het
Nrip3	A	G	7: 109,365,763 (GRCm39)	S85P	probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Olr1	T	C	6: 129,465,895 (GRCm39)	N37S	possibly damaging	Het
Or14j5	C	T	17: 38,161,966 (GRCm39)	A161V	probably benign	Het
Or4b1d	A	G	2: 89,968,931 (GRCm39)	L184S	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or5p80	G	T	7: 108,229,855 (GRCm39)	V219F	possibly damaging	Het
Pax4	T	C	6: 28,443,446 (GRCm39)	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,640,310 (GRCm39)	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,098,614 (GRCm39)	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,703,483 (GRCm39)	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Pygm	T	C	19: 6,447,637 (GRCm39)	I648T	possibly damaging	Het
Rab4a	A	T	8: 124,550,565 (GRCm39)	K15I	probably damaging	Het
Rasa3	T	C	8: 13,635,035 (GRCm39)	E428G	probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rpl3	C	T	15: 79,964,591 (GRCm39)	V222M	possibly damaging	Het
Rtl9	C	T	X: 141,886,011 (GRCm39)	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Slit2	A	G	5: 48,461,372 (GRCm39)	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,008,317 (GRCm39)	V44I	probably benign	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Tpd52	G	T	3: 9,012,579 (GRCm39)	N59K	probably damaging	Het
Trpc3	G	A	3: 36,692,695 (GRCm39)	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,510,331 (GRCm39)	V312D	probably damaging	Het
Xirp2	A	G	2: 67,345,582 (GRCm39)	N2608D	possibly damaging	Het
Zfp764l1	T	A	7: 126,991,081 (GRCm39)	H302L	probably damaging	Het
Zscan25	C	A	5: 145,227,858 (GRCm39)	H507Q	possibly damaging	Het

Other mutations in Sfswap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Sfswap	APN	5	129,590,297 (GRCm39)	missense	probably damaging	1.00
IGL02064:Sfswap	APN	5	129,637,860 (GRCm39)	missense	probably benign	0.17
IGL02083:Sfswap	APN	5	129,616,855 (GRCm39)	missense	probably benign
IGL02378:Sfswap	APN	5	129,616,668 (GRCm39)	missense	probably damaging	1.00
FR4340:Sfswap	UTSW	5	129,646,815 (GRCm39)	unclassified	probably benign
FR4342:Sfswap	UTSW	5	129,646,821 (GRCm39)	unclassified	probably benign
FR4449:Sfswap	UTSW	5	129,646,813 (GRCm39)	unclassified	probably benign
FR4449:Sfswap	UTSW	5	129,646,812 (GRCm39)	unclassified	probably benign
FR4548:Sfswap	UTSW	5	129,646,819 (GRCm39)	unclassified	probably benign
FR4548:Sfswap	UTSW	5	129,646,813 (GRCm39)	unclassified	probably benign
FR4737:Sfswap	UTSW	5	129,646,820 (GRCm39)	unclassified	probably benign
FR4976:Sfswap	UTSW	5	129,646,815 (GRCm39)	unclassified	probably benign
I1329:Sfswap	UTSW	5	129,584,201 (GRCm39)	unclassified	probably benign
P0033:Sfswap	UTSW	5	129,616,819 (GRCm39)	missense	possibly damaging	0.60
R0184:Sfswap	UTSW	5	129,584,253 (GRCm39)	missense	probably damaging	0.97
R0233:Sfswap	UTSW	5	129,631,607 (GRCm39)	missense	possibly damaging	0.82
R0233:Sfswap	UTSW	5	129,631,607 (GRCm39)	missense	possibly damaging	0.82
R0414:Sfswap	UTSW	5	129,581,115 (GRCm39)	missense	possibly damaging	0.83
R0415:Sfswap	UTSW	5	129,581,190 (GRCm39)	missense	probably damaging	1.00
R0570:Sfswap	UTSW	5	129,581,042 (GRCm39)	splice site	probably benign
R1018:Sfswap	UTSW	5	129,631,640 (GRCm39)	missense	possibly damaging	0.91
R1173:Sfswap	UTSW	5	129,584,207 (GRCm39)	critical splice acceptor site	probably null
R1298:Sfswap	UTSW	5	129,618,442 (GRCm39)	missense	probably benign	0.14
R1723:Sfswap	UTSW	5	129,616,758 (GRCm39)	missense	probably benign
R1783:Sfswap	UTSW	5	129,590,304 (GRCm39)	missense	possibly damaging	0.92
R1879:Sfswap	UTSW	5	129,618,392 (GRCm39)	missense	probably benign	0.01
R2078:Sfswap	UTSW	5	129,593,171 (GRCm39)	missense	possibly damaging	0.81
R2349:Sfswap	UTSW	5	129,646,802 (GRCm39)	missense	possibly damaging	0.87
R3757:Sfswap	UTSW	5	129,590,298 (GRCm39)	missense	probably damaging	1.00
R4093:Sfswap	UTSW	5	129,637,805 (GRCm39)	missense	possibly damaging	0.85
R4094:Sfswap	UTSW	5	129,637,805 (GRCm39)	missense	possibly damaging	0.85
R4095:Sfswap	UTSW	5	129,637,805 (GRCm39)	missense	possibly damaging	0.85
R4785:Sfswap	UTSW	5	129,590,147 (GRCm39)	missense	probably damaging	1.00
R5139:Sfswap	UTSW	5	129,648,073 (GRCm39)	missense	possibly damaging	0.73
R5355:Sfswap	UTSW	5	129,616,810 (GRCm39)	missense	probably benign	0.09
R5481:Sfswap	UTSW	5	129,591,882 (GRCm39)	missense	probably damaging	0.98
R5600:Sfswap	UTSW	5	129,590,222 (GRCm39)	missense	probably damaging	1.00
R5686:Sfswap	UTSW	5	129,591,882 (GRCm39)	missense	probably damaging	0.98
R5906:Sfswap	UTSW	5	129,619,107 (GRCm39)	missense	probably benign	0.22
R6332:Sfswap	UTSW	5	129,648,105 (GRCm39)	missense	possibly damaging	0.91
R6738:Sfswap	UTSW	5	129,618,505 (GRCm39)	missense	probably damaging	0.98
R6743:Sfswap	UTSW	5	129,627,883 (GRCm39)	nonsense	probably null
R7371:Sfswap	UTSW	5	129,620,305 (GRCm39)	missense	probably benign	0.01
R7747:Sfswap	UTSW	5	129,627,657 (GRCm39)	splice site	probably null
R8286:Sfswap	UTSW	5	129,616,783 (GRCm39)	missense	probably damaging	0.99
R8738:Sfswap	UTSW	5	129,620,345 (GRCm39)	missense	possibly damaging	0.52
R8943:Sfswap	UTSW	5	129,581,168 (GRCm39)	missense	probably damaging	1.00
R9119:Sfswap	UTSW	5	129,591,829 (GRCm39)	missense	probably benign
R9587:Sfswap	UTSW	5	129,618,427 (GRCm39)	missense	probably benign	0.00
R9601:Sfswap	UTSW	5	129,618,463 (GRCm39)	missense	possibly damaging	0.94
R9718:Sfswap	UTSW	5	129,616,848 (GRCm39)	missense	probably benign
RF003:Sfswap	UTSW	5	129,646,828 (GRCm39)	unclassified	probably benign
RF042:Sfswap	UTSW	5	129,646,807 (GRCm39)	unclassified	probably benign
RF049:Sfswap	UTSW	5	129,646,808 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GATGAGGTCCTGAAGTTACATAAGC -3'
(R):5'- TCTCAGCTAGCACCGTGTAC -3'

Sequencing Primer
(F):5'- TGTGCCTCAATACACAAGTGG -3'
(R):5'- TAGCACCGTGTACCGTCC -3'

Posted On

2014-06-23