Mutagenetix > Incidental Mutation

Incidental Mutation 'R9522:Slfn3'

718965

Institutional Source

Beutler Lab

Gene Symbol

Slfn3

Ensembl Gene

ENSMUSG00000018986

Gene Name

schlafen 3

Synonyms

MMRRC Submission

Accession Numbers

MGI: 1329005

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9522 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83191330-83215154 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83212999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 232 (V232A)

Ref Sequence

ENSEMBL: ENSMUSP00000150425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019130] [ENSMUST00000214041]

AlphaFold

A0A1L1STQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000019130
AA Change: V109A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: V109A

Domain	Start	End	E-Value	Type
Pfam:AlbA_2	165	303	5.5e-11	PFAM
low complexity region	394	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214041
AA Change: V232A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit normal immune cell populations. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	T	5: 30,466,123	S5C	probably damaging	Het
5830411N06Rik	T	A	7: 140,274,074	I330N	possibly damaging	Het
Abca14	A	T	7: 120,248,145	Y744F	probably null	Het
Adam17	C	A	12: 21,345,692	V277F	probably damaging	Het
Adcy8	C	T	15: 64,920,711	C132Y	probably damaging	Het
Adgrf3	G	A	5: 30,199,484	P318L	possibly damaging	Het
Ahcyl1	A	T	3: 107,672,082	I212N	probably damaging	Het
Allc	A	T	12: 28,570,654	F33I	probably damaging	Het
Arhgap32	A	G	9: 32,116,154	T7A	probably benign	Het
Bbs4	A	G	9: 59,353,408		probably null	Het
Btbd1	G	T	7: 81,829,333	P20H	unknown	Het
Cass4	A	G	2: 172,427,428	I477V	possibly damaging	Het
Cep83	A	G	10: 94,750,322	E362G	probably damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Cntnap5b	A	G	1: 100,484,622	D896G	probably benign	Het
Crocc2	T	C	1: 93,189,707	V305A	probably benign	Het
Cse1l	G	A	2: 166,934,753	V495I	probably benign	Het
Ctsj	A	T	13: 61,004,443	Y36*	probably null	Het
Ctss	T	G	3: 95,546,798	D220E	probably benign	Het
Ctu1	T	C	7: 43,675,476	L113P	probably benign	Het
Cyp2d40	G	A	15: 82,764,073	A13V	possibly damaging	Het
Dhrs4	A	T	14: 55,478,762		probably benign	Het
Dlgap4	G	T	2: 156,704,594	R394L	possibly damaging	Het
Dpysl5	C	A	5: 30,778,055	Y167*	probably null	Het
E4f1	C	T	17: 24,447,122	G234D	probably damaging	Het
Eif3g	G	T	9: 20,898,155	T27N	probably benign	Het
Eif3g	T	A	9: 20,898,156	T27S	probably benign	Het
Fcrls	A	G	3: 87,256,794	F343L	possibly damaging	Het
Fdft1	T	C	14: 63,159,148		probably null	Het
Gm4450	T	C	3: 98,446,467	S239G	probably benign	Het
Gm960	T	C	19: 4,627,246	H612R	probably benign	Het
Igf2r	G	T	17: 12,698,328	Q1562K	probably benign	Het
Ilf3	G	A	9: 21,394,237	V232I	probably benign	Het
Irx5	C	T	8: 92,360,631	T397M	possibly damaging	Het
Kif16b	A	T	2: 142,849,907	V219D	probably damaging	Het
Klkb1	T	C	8: 45,277,015	I276M	probably benign	Het
Large2	A	G	2: 92,369,921	L115P	probably damaging	Het
Lrrc3b	T	C	14: 15,358,423	D61G	probably benign	Het
Map7	A	G	10: 20,229,896	Y31C	possibly damaging	Het
Moxd2	T	A	6: 40,880,441	I462F	probably benign	Het
Olfr1158	G	A	2: 87,990,831	C240Y	probably damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr1450	T	A	19: 12,954,013	C141*	probably null	Het
Phf20l1	T	C	15: 66,632,820	V770A	possibly damaging	Het
Ppfia4	G	A	1: 134,313,148	A819V	probably damaging	Het
Qrfpr	A	G	3: 36,182,527	W242R	probably damaging	Het
Rgs3	A	G	4: 62,605,492	I53M	probably benign	Het
Rif1	T	C	2: 52,081,299	F263S	probably damaging	Het
Rpl22l1	T	C	3: 28,806,594		probably null	Het
Ryr3	T	A	2: 112,730,414	I3001F	probably benign	Het
Safb2	A	G	17: 56,566,900	I675T	probably damaging	Het
Sec16b	C	T	1: 157,564,765	S901L	probably damaging	Het
Setd5	T	G	6: 113,115,034	I272S	probably damaging	Het
Slc40a1	A	T	1: 45,909,512	M536K	probably damaging	Het
Spata31d1b	T	C	13: 59,716,966	S643P	probably benign	Het
Tbc1d23	T	C	16: 57,198,744	D251G	probably benign	Het
Tbccd1	T	C	16: 22,822,499	E376G	possibly damaging	Het
Tmem184a	G	T	5: 139,805,730	P368T	probably benign	Het
Top1mt	T	C	15: 75,667,460	D362G	probably damaging	Het
Ugt3a2	C	A	15: 9,370,123	P451H	probably damaging	Het
Unc80	G	A	1: 66,638,062	C2050Y	possibly damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Vmn1r179	T	C	7: 23,928,777	V131A	probably damaging	Het
Wdr89	A	G	12: 75,633,150	F110S	probably damaging	Het
Znrf3	T	C	11: 5,282,379	Y282C	probably damaging	Het
Zscan18	T	C	7: 12,769,370	D754G	possibly damaging	Het

Other mutations in Slfn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Slfn3	APN	11	83213431	missense	probably damaging	1.00
IGL01405:Slfn3	APN	11	83214716	missense	possibly damaging	0.90
IGL01631:Slfn3	APN	11	83213535	missense	probably damaging	0.99
IGL01944:Slfn3	APN	11	83213148	missense	possibly damaging	0.59
IGL02354:Slfn3	APN	11	83213242	missense	possibly damaging	0.95
IGL02361:Slfn3	APN	11	83213242	missense	possibly damaging	0.95
IGL02512:Slfn3	APN	11	83213025	missense	possibly damaging	0.55
IGL02875:Slfn3	APN	11	83213427	missense	probably damaging	0.98
IGL02944:Slfn3	APN	11	83213011	missense	probably damaging	0.99
IGL03402:Slfn3	APN	11	83213431	missense	probably damaging	1.00
R0452:Slfn3	UTSW	11	83213128	missense	possibly damaging	0.87
R0506:Slfn3	UTSW	11	83213160	missense	probably damaging	0.99
R0560:Slfn3	UTSW	11	83213152	missense	probably damaging	0.99
R0788:Slfn3	UTSW	11	83212836	missense	possibly damaging	0.47
R1602:Slfn3	UTSW	11	83212715	missense	probably damaging	1.00
R1713:Slfn3	UTSW	11	83213314	missense	probably damaging	0.98
R1881:Slfn3	UTSW	11	83213376	missense	possibly damaging	0.80
R2264:Slfn3	UTSW	11	83212972	missense	probably benign	0.00
R2441:Slfn3	UTSW	11	83212683	missense	probably benign	0.00
R2921:Slfn3	UTSW	11	83215045	missense	probably benign	0.01
R4163:Slfn3	UTSW	11	83212770	missense	probably damaging	1.00
R5099:Slfn3	UTSW	11	83214938	missense	probably damaging	0.98
R5448:Slfn3	UTSW	11	83214605	missense	probably damaging	0.99
R6441:Slfn3	UTSW	11	83214914	missense	probably benign	0.00
R6527:Slfn3	UTSW	11	83213106	missense	probably benign	0.01
R6785:Slfn3	UTSW	11	83214601	missense	possibly damaging	0.73
R7128:Slfn3	UTSW	11	83214895	missense	probably benign	0.00
R7344:Slfn3	UTSW	11	83212822	missense	probably benign	0.28
R7528:Slfn3	UTSW	11	83214905	missense	probably benign	0.01
R7763:Slfn3	UTSW	11	83214788	missense	possibly damaging	0.95
R8155:Slfn3	UTSW	11	83212785	missense	probably damaging	1.00
R8178:Slfn3	UTSW	11	83214679	missense	probably benign	0.33
R8210:Slfn3	UTSW	11	83214506	missense	possibly damaging	0.48
R8347:Slfn3	UTSW	11	83213589	missense	possibly damaging	0.95
R8671:Slfn3	UTSW	11	83212999	missense	probably benign	0.00
R9093:Slfn3	UTSW	11	83213122	missense	probably damaging	0.99
R9106:Slfn3	UTSW	11	83212632	missense	probably benign	0.00
R9293:Slfn3	UTSW	11	83214790	missense	possibly damaging	0.85
R9362:Slfn3	UTSW	11	83212981	missense	probably benign
R9521:Slfn3	UTSW	11	83212999	missense	probably benign
R9644:Slfn3	UTSW	11	83214902	missense	probably damaging	1.00
Z1176:Slfn3	UTSW	11	83213409	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTACCCGGTATCATGCACC -3'
(R):5'- GGGAGGAGCTCTAAAATCTTTTCC -3'

Sequencing Primer
(F):5'- GGTATCATGCACCTTCCTCATGAC -3'
(R):5'- CCTTAGGAGTCAATTTTACTTCAGC -3'

Posted On

2022-07-18