Mutagenetix > Incidental Mutation

Incidental Mutation 'R8698:Sltm'

668856

Institutional Source

Beutler Lab

Gene Symbol

Sltm

Ensembl Gene

ENSMUSG00000032212

Gene Name

SAFB-like, transcription modulator

Synonyms

5730455C01Rik, 5730555F13Rik, 9130215G10Rik

MMRRC Submission

068552-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R8698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70450036-70499516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70494352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 901 (S901P)

Ref Sequence

ENSEMBL: ENSMUSP00000049112 (fasta)

Gene Model

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

AlphaFold

Q8CH25

Predicted Effect

probably benign
Transcript: ENSMUST00000049263
AA Change: S901P

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: S901P

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: ENSMUST00000216816
AA Change: S883P

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000217593

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,247,250 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,714 (GRCm39)	N1384S	probably benign	Het
Adgre1	T	C	17: 57,709,003 (GRCm39)	S65P	probably benign	Het
Adgrl4	G	T	3: 151,203,512 (GRCm39)	C124F	probably damaging	Het
Aldh1b1	G	A	4: 45,802,942 (GRCm39)	G160D	probably damaging	Het
Alpi	T	G	1: 87,028,208 (GRCm39)	D205A	probably damaging	Het
AW146154	C	A	7: 41,129,934 (GRCm39)	R394L	probably benign	Het
Bcl10	G	A	3: 145,639,022 (GRCm39)	M221I	probably benign	Het
Brpf3	G	A	17: 29,037,436 (GRCm39)	R768H	probably damaging	Het
Cad	G	T	5: 31,234,819 (GRCm39)	R2116L	probably benign	Het
Cand2	G	T	6: 115,763,852 (GRCm39)	R258L	probably damaging	Het
Car4	A	T	11: 84,855,009 (GRCm39)	N119I	probably benign	Het
Carmil1	C	T	13: 24,220,229 (GRCm39)	G1165D	probably damaging	Het
Ccdc66	T	C	14: 27,212,647 (GRCm39)	T403A	probably benign	Het
Cdon	T	G	9: 35,398,269 (GRCm39)		probably null	Het
Cemip	T	C	7: 83,607,790 (GRCm39)	I739V	probably damaging	Het
Cep85l	A	G	10: 53,234,201 (GRCm39)	I59T	probably damaging	Het
Clec4f	A	T	6: 83,630,267 (GRCm39)	V97D	probably benign	Het
Cnot6l	A	G	5: 96,225,149 (GRCm39)	C515R	probably damaging	Het
Cntnap2	G	A	6: 47,026,156 (GRCm39)	G935D	probably damaging	Het
Cntrl	A	G	2: 35,023,974 (GRCm39)	H553R	probably damaging	Het
Cops3	A	G	11: 59,708,886 (GRCm39)	S423P	probably damaging	Het
Cox15	C	T	19: 43,739,948 (GRCm39)	R39H	probably benign	Het
Ctnna2	A	G	6: 77,630,100 (GRCm39)	V131A	probably benign	Het
Dcst2	T	A	3: 89,276,044 (GRCm39)	F392I	probably benign	Het
Decr1	A	G	4: 15,922,483 (GRCm39)		probably null	Het
Dennd3	A	C	15: 73,394,154 (GRCm39)	T60P	possibly damaging	Het
Dipk1a	A	T	5: 108,057,776 (GRCm39)	F261I	probably damaging	Het
Dmxl2	T	C	9: 54,281,953 (GRCm39)	N2859S	probably benign	Het
Dnah12	A	T	14: 26,428,418 (GRCm39)	I280F	probably benign	Het
Dnah8	A	C	17: 31,094,009 (GRCm39)	D4701A	probably damaging	Het
Dyrk1a	C	A	16: 94,487,414 (GRCm39)	H541Q	possibly damaging	Het
Eml4	T	C	17: 83,785,345 (GRCm39)	S906P	probably benign	Het
Fam169a	G	T	13: 97,243,578 (GRCm39)	V203F	probably damaging	Het
Fmn1	C	T	2: 113,260,152 (GRCm39)	L682F	unknown	Het
Gli2	T	C	1: 118,769,887 (GRCm39)	Y555C	probably damaging	Het
Gm3278	A	G	14: 16,081,505 (GRCm39)	Y130C	possibly damaging	Het
Gm8237	T	A	14: 5,863,554 (GRCm38)	Y37F	probably damaging	Het
Golga4	T	G	9: 118,385,029 (GRCm39)	L717R	probably damaging	Het
Gtpbp4	C	T	13: 9,024,249 (GRCm39)	R568H	probably benign	Het
Il1f10	A	G	2: 24,183,197 (GRCm39)	N47S	probably damaging	Het
Itga6	A	G	2: 71,673,618 (GRCm39)	H884R	probably benign	Het
Kdm1a	T	C	4: 136,286,518 (GRCm39)	K482R	probably benign	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	T	A	2: 69,278,583 (GRCm39)	R3923S	probably benign	Het
Lrp2	C	T	2: 69,288,767 (GRCm39)	V3700M	probably benign	Het
Lrrk2	A	G	15: 91,636,400 (GRCm39)	D1458G	probably benign	Het
Mapre2	T	A	18: 24,011,090 (GRCm39)	S233T	probably benign	Het
Mki67	T	C	7: 135,296,937 (GRCm39)	D2699G	possibly damaging	Het
Mthfr	T	A	4: 148,128,947 (GRCm39)	Y214*	probably null	Het
Ncoa6	A	T	2: 155,257,041 (GRCm39)	M834K	possibly damaging	Het
Neurl2	C	T	2: 164,675,054 (GRCm39)	D103N	probably benign	Het
Niban3	T	A	8: 72,060,159 (GRCm39)	I93N	unknown	Het
Or1j15	T	C	2: 36,458,915 (GRCm39)	Y102H	possibly damaging	Het
Or2ag16	A	T	7: 106,352,571 (GRCm39)	V8E	probably benign	Het
Or2b7	G	A	13: 21,739,890 (GRCm39)	L101F	probably damaging	Het
P2ry14	A	G	3: 59,022,596 (GRCm39)	V288A	possibly damaging	Het
Pde6b	G	T	5: 108,576,105 (GRCm39)	S730I	possibly damaging	Het
Pdpk1	A	T	17: 24,298,542 (GRCm39)	V496D	probably damaging	Het
Plekho2	A	T	9: 65,463,554 (GRCm39)	L432M	probably damaging	Het
Ppa2	T	C	3: 133,082,362 (GRCm39)	L151P	unknown	Het
Ppp2r3c	G	A	12: 55,328,499 (GRCm39)	T422I	probably benign	Het
Prelid3a	T	C	18: 67,610,122 (GRCm39)	S151P	probably damaging	Het
Rad21l	G	A	2: 151,487,373 (GRCm39)	P537L	probably damaging	Het
Sacs	T	A	14: 61,450,802 (GRCm39)	S4283T	probably benign	Het
Samd9l	A	T	6: 3,373,843 (GRCm39)	D1139E	probably benign	Het
Scn9a	G	T	2: 66,366,628 (GRCm39)	H718Q	probably benign	Het
Slc1a3	A	T	15: 8,668,636 (GRCm39)	I443N	probably damaging	Het
Slc22a6	A	G	19: 8,600,889 (GRCm39)	M361V	probably benign	Het
Slc8a2	A	G	7: 15,891,132 (GRCm39)	Y724C	probably damaging	Het
Slf1	A	T	13: 77,197,284 (GRCm39)	S777T	possibly damaging	Het
Smc1b	A	T	15: 84,997,047 (GRCm39)	H524Q	probably benign	Het
Spast	T	C	17: 74,666,341 (GRCm39)	S225P	probably benign	Het
Srsf12	C	T	4: 33,231,246 (GRCm39)	R252W	probably damaging	Het
Syne1	A	G	10: 5,179,229 (GRCm39)	L4415P	probably damaging	Het
Tmem117	A	T	15: 94,535,990 (GRCm39)	Y8F	probably benign	Het
Tmem241	T	C	18: 12,197,288 (GRCm39)	D180G	possibly damaging	Het
Tomm40	C	T	7: 19,444,890 (GRCm39)	V164I	probably benign	Het
Ttc41	T	C	10: 86,548,841 (GRCm39)	Y12H	probably benign	Het
Twnk	T	C	19: 44,996,299 (GRCm39)	V244A	probably benign	Het
Ugt1a8	T	C	1: 88,015,952 (GRCm39)	S122P	probably damaging	Het
Vmn1r78	A	G	7: 11,886,539 (GRCm39)	K50R	probably benign	Het
Vmn2r10	A	G	5: 109,151,390 (GRCm39)	F75L	probably benign	Het
Wbp4	G	T	14: 79,707,573 (GRCm39)	Y179*	probably null	Het
Zfp106	A	G	2: 120,354,600 (GRCm39)		probably null	Het
Zfp974	A	T	7: 27,610,361 (GRCm39)	C455S	possibly damaging	Het

Other mutations in Sltm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Sltm	APN	9	70,486,624 (GRCm39)	missense	probably damaging	1.00
IGL01755:Sltm	APN	9	70,491,204 (GRCm39)	splice site	probably null
IGL01782:Sltm	APN	9	70,480,923 (GRCm39)	missense	probably damaging	1.00
IGL02441:Sltm	APN	9	70,494,467 (GRCm39)	missense	probably damaging	1.00
IGL02831:Sltm	APN	9	70,492,147 (GRCm39)	missense	probably damaging	1.00
IGL02947:Sltm	APN	9	70,498,946 (GRCm39)	missense	probably benign	0.05
IGL03166:Sltm	APN	9	70,450,251 (GRCm39)	missense	possibly damaging	0.87
R0288:Sltm	UTSW	9	70,486,633 (GRCm39)	missense	probably damaging	1.00
R0555:Sltm	UTSW	9	70,493,363 (GRCm39)	missense	probably damaging	1.00
R0815:Sltm	UTSW	9	70,469,190 (GRCm39)	missense	probably benign	0.04
R0863:Sltm	UTSW	9	70,469,190 (GRCm39)	missense	probably benign	0.04
R1315:Sltm	UTSW	9	70,450,347 (GRCm39)	missense	probably benign	0.13
R1533:Sltm	UTSW	9	70,493,948 (GRCm39)	missense	probably damaging	1.00
R1676:Sltm	UTSW	9	70,480,929 (GRCm39)	missense	probably damaging	1.00
R1764:Sltm	UTSW	9	70,469,082 (GRCm39)	missense	probably benign	0.00
R1845:Sltm	UTSW	9	70,450,314 (GRCm39)	missense	possibly damaging	0.60
R2049:Sltm	UTSW	9	70,488,583 (GRCm39)	missense	probably benign	0.00
R2163:Sltm	UTSW	9	70,498,964 (GRCm39)	missense	probably damaging	0.99
R3410:Sltm	UTSW	9	70,493,240 (GRCm39)	missense	probably damaging	0.97
R4323:Sltm	UTSW	9	70,487,529 (GRCm39)	missense	probably benign
R4632:Sltm	UTSW	9	70,486,651 (GRCm39)	missense	possibly damaging	0.86
R4748:Sltm	UTSW	9	70,488,647 (GRCm39)	missense	probably damaging	1.00
R4756:Sltm	UTSW	9	70,498,892 (GRCm39)	missense	possibly damaging	0.57
R4782:Sltm	UTSW	9	70,496,339 (GRCm39)	missense	probably damaging	1.00
R4799:Sltm	UTSW	9	70,496,339 (GRCm39)	missense	probably damaging	1.00
R4887:Sltm	UTSW	9	70,496,260 (GRCm39)	missense	probably damaging	1.00
R5221:Sltm	UTSW	9	70,486,685 (GRCm39)	missense	probably damaging	1.00
R5263:Sltm	UTSW	9	70,492,081 (GRCm39)	missense	unknown
R5982:Sltm	UTSW	9	70,494,086 (GRCm39)	missense	probably damaging	1.00
R6297:Sltm	UTSW	9	70,488,641 (GRCm39)	missense	probably damaging	0.99
R6456:Sltm	UTSW	9	70,450,269 (GRCm39)	missense	probably damaging	1.00
R6658:Sltm	UTSW	9	70,488,644 (GRCm39)	missense	probably damaging	1.00
R6720:Sltm	UTSW	9	70,480,992 (GRCm39)	missense	probably damaging	1.00
R6770:Sltm	UTSW	9	70,492,059 (GRCm39)	missense	unknown
R6923:Sltm	UTSW	9	70,481,892 (GRCm39)	missense	probably damaging	1.00
R7051:Sltm	UTSW	9	70,466,348 (GRCm39)	missense	probably damaging	1.00
R7166:Sltm	UTSW	9	70,492,132 (GRCm39)	missense	probably damaging	1.00
R7257:Sltm	UTSW	9	70,451,247 (GRCm39)	splice site	probably null
R7400:Sltm	UTSW	9	70,493,352 (GRCm39)	missense	probably damaging	1.00
R7438:Sltm	UTSW	9	70,480,748 (GRCm39)	missense	unknown
R7484:Sltm	UTSW	9	70,481,179 (GRCm39)	missense	unknown
R7630:Sltm	UTSW	9	70,493,955 (GRCm39)	missense	possibly damaging	0.94
R7631:Sltm	UTSW	9	70,493,955 (GRCm39)	missense	possibly damaging	0.94
R7632:Sltm	UTSW	9	70,493,955 (GRCm39)	missense	possibly damaging	0.94
R7633:Sltm	UTSW	9	70,493,955 (GRCm39)	missense	possibly damaging	0.94
R7862:Sltm	UTSW	9	70,479,446 (GRCm39)	nonsense	probably null
R7885:Sltm	UTSW	9	70,493,955 (GRCm39)	missense	possibly damaging	0.94
R7886:Sltm	UTSW	9	70,493,955 (GRCm39)	missense	possibly damaging	0.94
R7888:Sltm	UTSW	9	70,493,955 (GRCm39)	missense	possibly damaging	0.94
R7889:Sltm	UTSW	9	70,493,955 (GRCm39)	missense	possibly damaging	0.94
R7891:Sltm	UTSW	9	70,493,955 (GRCm39)	missense	possibly damaging	0.94
R7915:Sltm	UTSW	9	70,494,431 (GRCm39)	missense	probably damaging	1.00
R8030:Sltm	UTSW	9	70,493,261 (GRCm39)	nonsense	probably null
R8062:Sltm	UTSW	9	70,480,779 (GRCm39)	missense	unknown
R8099:Sltm	UTSW	9	70,493,360 (GRCm39)	missense	probably damaging	1.00
R8374:Sltm	UTSW	9	70,469,227 (GRCm39)	missense	probably null
R9541:Sltm	UTSW	9	70,481,057 (GRCm39)	missense	unknown
R9563:Sltm	UTSW	9	70,480,841 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAACTTCCTGGAAAAGCGAAG -3'
(R):5'- ACGGATCCAAATTCTGTCTGGC -3'

Sequencing Primer
(F):5'- CGAAGCGAATATGTCCACAGAG -3'
(R):5'- GTAACTCTAGTTCCAGGAGACCTG -3'

Posted On

2021-04-30