Mutagenetix > Incidental Mutation

Incidental Mutation 'R0288:Sltm'

24734

Institutional Source

Beutler Lab

Gene Symbol

Sltm

Ensembl Gene

ENSMUSG00000032212

Gene Name

SAFB-like, transcription modulator

Synonyms

9130215G10Rik, 5730555F13Rik, 5730455C01Rik

MMRRC Submission

038507-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R0288 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70542754-70592234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70579351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 433 (S433P)

Ref Sequence

ENSEMBL: ENSMUSP00000150324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049263] [ENSMUST00000213808] [ENSMUST00000216816] [ENSMUST00000217593]

AlphaFold

Q8CH25

Predicted Effect

unknown
Transcript: ENSMUST00000049263
AA Change: S433P

SMART Domains

Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: S433P

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SAP	22	56	2.49e-10	SMART
low complexity region	74	86	N/A	INTRINSIC
coiled coil region	152	180	N/A	INTRINSIC
low complexity region	318	330	N/A	INTRINSIC
low complexity region	352	384	N/A	INTRINSIC
RRM	385	458	2.06e-16	SMART
low complexity region	498	526	N/A	INTRINSIC
low complexity region	536	552	N/A	INTRINSIC
low complexity region	591	601	N/A	INTRINSIC
coiled coil region	635	727	N/A	INTRINSIC
low complexity region	824	853	N/A	INTRINSIC
low complexity region	979	990	N/A	INTRINSIC
low complexity region	1015	1028	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214834

Predicted Effect

unknown
Transcript: ENSMUST00000216816
AA Change: S415P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216881

Predicted Effect

probably damaging
Transcript: ENSMUST00000217593
AA Change: S433P

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

Meta Mutation Damage Score

0.5028

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.7%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,039,940	E413G	possibly damaging	Het
Amigo2	G	T	15: 97,245,679	N287K	probably damaging	Het
Ankle2	T	A	5: 110,236,390	I260K	probably damaging	Het
Apob	C	T	12: 7,990,779	R635*	probably null	Het
Camkv	A	G	9: 107,946,356	Y153C	probably damaging	Het
Capn9	A	G	8: 124,600,491		probably benign	Het
Ces2c	A	G	8: 104,849,744	I130V	probably benign	Het
Cfap44	T	A	16: 44,415,894		probably benign	Het
Cfhr3	A	G	1: 139,597,687		noncoding transcript	Het
Chmp1a	G	T	8: 123,208,006	D70E	probably damaging	Het
Coil	G	A	11: 88,981,868	G352R	probably damaging	Het
Colq	T	C	14: 31,543,992	E188G	possibly damaging	Het
Cyfip2	A	G	11: 46,253,972	F685S	possibly damaging	Het
Cyp4f39	A	G	17: 32,492,436	N519S	probably benign	Het
Dennd1c	A	T	17: 57,076,870		probably null	Het
Dnah9	A	T	11: 66,025,134		probably null	Het
Dnmbp	T	C	19: 43,902,459	T290A	possibly damaging	Het
Dsc2	T	C	18: 20,033,120	D818G	probably damaging	Het
Gnptab	G	A	10: 88,433,105	V557I	probably benign	Het
Hdac4	A	T	1: 91,971,006	H675Q	probably damaging	Het
Kcnk3	T	C	5: 30,588,420	M35T	probably benign	Het
Kif1b	A	T	4: 149,199,338	I1290N	probably damaging	Het
Klhl14	G	A	18: 21,565,563	R398W	probably damaging	Het
Marveld1	T	C	19: 42,147,826	F60L	probably damaging	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Ndst3	A	T	3: 123,672,194	V43D	probably benign	Het
Nhsl1	A	G	10: 18,524,046	D306G	probably damaging	Het
Nlrp2	A	G	7: 5,328,545	V284A	probably benign	Het
Pcdhb15	T	C	18: 37,475,398	V561A	probably damaging	Het
Pdcl2	T	C	5: 76,312,497	I177V	possibly damaging	Het
Pkd1l3	G	A	8: 109,646,499		probably null	Het
Pla2g6	A	C	15: 79,286,906		probably benign	Het
Plekhj1	A	T	10: 80,796,610	I122N	probably damaging	Het
Pmel	T	C	10: 128,714,306	I70T	probably benign	Het
Psip1	T	C	4: 83,464,959	D273G	probably damaging	Het
Rictor	A	G	15: 6,786,540	I1098V	probably benign	Het
Rif1	T	C	2: 52,110,013	S1160P	probably damaging	Het
Rsbn1l	T	C	5: 20,920,040	I255V	probably damaging	Het
Slc15a5	A	G	6: 138,017,916		probably benign	Het
Slc29a1	G	A	17: 45,589,804	R111W	probably damaging	Het
Slc36a1	G	A	11: 55,219,087	A74T	probably damaging	Het
Slc5a7	A	T	17: 54,293,018	Y122*	probably null	Het
Slc6a3	G	T	13: 73,560,928	G324W	probably damaging	Het
Spta1	T	C	1: 174,243,179	S2190P	probably damaging	Het
Sry	A	T	Y: 2,662,818	F281I	unknown	Het
Stk32a	T	A	18: 43,304,995		probably null	Het
Sytl2	T	C	7: 90,403,020		probably benign	Het
Tbl3	G	A	17: 24,701,807	H612Y	probably damaging	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Top2a	A	G	11: 99,016,423		probably benign	Het
Usp9y	A	T	Y: 1,333,606		probably benign	Het
Vldlr	G	A	19: 27,240,651		probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vmn2r28	A	G	7: 5,488,021	L409P	probably damaging	Het
Vps13c	T	C	9: 67,927,366	V1659A	probably damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zfp280d	A	T	9: 72,331,339	K646*	probably null	Het
Zfp36	A	G	7: 28,378,241	S81P	probably benign	Het
Zfp618	A	T	4: 63,132,934	T651S	possibly damaging	Het

Other mutations in Sltm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Sltm	APN	9	70579342	missense	probably damaging	1.00
IGL01755:Sltm	APN	9	70583922	splice site	probably null
IGL01782:Sltm	APN	9	70573641	missense	probably damaging	1.00
IGL02441:Sltm	APN	9	70587185	missense	probably damaging	1.00
IGL02831:Sltm	APN	9	70584865	missense	probably damaging	1.00
IGL02947:Sltm	APN	9	70591664	missense	probably benign	0.05
IGL03166:Sltm	APN	9	70542969	missense	possibly damaging	0.87
R0555:Sltm	UTSW	9	70586081	missense	probably damaging	1.00
R0815:Sltm	UTSW	9	70561908	missense	probably benign	0.04
R0863:Sltm	UTSW	9	70561908	missense	probably benign	0.04
R1315:Sltm	UTSW	9	70543065	missense	probably benign	0.13
R1533:Sltm	UTSW	9	70586666	missense	probably damaging	1.00
R1676:Sltm	UTSW	9	70573647	missense	probably damaging	1.00
R1764:Sltm	UTSW	9	70561800	missense	probably benign	0.00
R1845:Sltm	UTSW	9	70543032	missense	possibly damaging	0.60
R2049:Sltm	UTSW	9	70581301	missense	probably benign	0.00
R2163:Sltm	UTSW	9	70591682	missense	probably damaging	0.99
R3410:Sltm	UTSW	9	70585958	missense	probably damaging	0.97
R4323:Sltm	UTSW	9	70580247	missense	probably benign
R4632:Sltm	UTSW	9	70579369	missense	possibly damaging	0.86
R4748:Sltm	UTSW	9	70581365	missense	probably damaging	1.00
R4756:Sltm	UTSW	9	70591610	missense	possibly damaging	0.57
R4782:Sltm	UTSW	9	70589057	missense	probably damaging	1.00
R4799:Sltm	UTSW	9	70589057	missense	probably damaging	1.00
R4887:Sltm	UTSW	9	70588978	missense	probably damaging	1.00
R5221:Sltm	UTSW	9	70579403	missense	probably damaging	1.00
R5263:Sltm	UTSW	9	70584799	missense	unknown
R5982:Sltm	UTSW	9	70586804	missense	probably damaging	1.00
R6297:Sltm	UTSW	9	70581359	missense	probably damaging	0.99
R6456:Sltm	UTSW	9	70542987	missense	probably damaging	1.00
R6658:Sltm	UTSW	9	70581362	missense	probably damaging	1.00
R6720:Sltm	UTSW	9	70573710	missense	probably damaging	1.00
R6770:Sltm	UTSW	9	70584777	missense	unknown
R6923:Sltm	UTSW	9	70574610	missense	probably damaging	1.00
R7051:Sltm	UTSW	9	70559066	missense	probably damaging	1.00
R7166:Sltm	UTSW	9	70584850	missense	probably damaging	1.00
R7257:Sltm	UTSW	9	70543965	splice site	probably null
R7400:Sltm	UTSW	9	70586070	missense	probably damaging	1.00
R7438:Sltm	UTSW	9	70573466	missense	unknown
R7484:Sltm	UTSW	9	70573897	missense	unknown
R7630:Sltm	UTSW	9	70586673	missense	possibly damaging	0.94
R7631:Sltm	UTSW	9	70586673	missense	possibly damaging	0.94
R7632:Sltm	UTSW	9	70586673	missense	possibly damaging	0.94
R7633:Sltm	UTSW	9	70586673	missense	possibly damaging	0.94
R7862:Sltm	UTSW	9	70572164	nonsense	probably null
R7885:Sltm	UTSW	9	70586673	missense	possibly damaging	0.94
R7886:Sltm	UTSW	9	70586673	missense	possibly damaging	0.94
R7888:Sltm	UTSW	9	70586673	missense	possibly damaging	0.94
R7889:Sltm	UTSW	9	70586673	missense	possibly damaging	0.94
R7891:Sltm	UTSW	9	70586673	missense	possibly damaging	0.94
R7915:Sltm	UTSW	9	70587149	missense	probably damaging	1.00
R8030:Sltm	UTSW	9	70585979	nonsense	probably null
R8062:Sltm	UTSW	9	70573497	missense	unknown
R8099:Sltm	UTSW	9	70586078	missense	probably damaging	1.00
R8374:Sltm	UTSW	9	70561945	missense	probably null
R8698:Sltm	UTSW	9	70587070	missense	probably benign	0.27
R9541:Sltm	UTSW	9	70573775	missense	unknown
R9563:Sltm	UTSW	9	70573559	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCACATTGGTCCAGATCCACTCTC -3'
(R):5'- GTAACCACGGTCCCTGTTGGTTTAG -3'

Sequencing Primer
(F):5'- TATGAGCGGACAGAATGATTCCC -3'
(R):5'- TCTGTTGAGCATCCTAACCAAG -3'

Posted On

2013-04-16