Mutagenetix > Incidental Mutation

Incidental Mutation 'R4756:Sltm'

358023

Institutional Source

Beutler Lab

Gene Symbol

Sltm

Ensembl Gene

ENSMUSG00000032212

Gene Name

SAFB-like, transcription modulator

Synonyms

5730455C01Rik, 5730555F13Rik, 9130215G10Rik

MMRRC Submission

041972-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70450036-70499516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70498892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 989 (M989L)

Ref Sequence

ENSEMBL: ENSMUSP00000149059 (fasta)

Gene Model

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

AlphaFold

Q8CH25

Predicted Effect

probably benign
Transcript: ENSMUST00000049263
AA Change: M1007L

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: M1007L

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

possibly damaging
Transcript: ENSMUST00000216816
AA Change: M989L

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000217593

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Acss2	T	C	2: 155,403,063 (GRCm39)	F627L	probably damaging	Het
Akap8	A	G	17: 32,535,184 (GRCm39)	S277P	probably damaging	Het
Akap9	T	A	5: 4,051,418 (GRCm39)	M1395K	probably damaging	Het
Ank1	A	G	8: 23,612,893 (GRCm39)	D1468G	probably benign	Het
Apoe	A	G	7: 19,430,846 (GRCm39)	V121A	probably benign	Het
Aqp9	A	T	9: 71,070,331 (GRCm39)	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,639,529 (GRCm39)	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,667,134 (GRCm39)	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,523,980 (GRCm39)		probably benign	Het
Bltp2	T	A	11: 78,154,854 (GRCm39)	L122H	probably damaging	Het
Brsk1	A	G	7: 4,711,866 (GRCm39)	E572G	possibly damaging	Het
C6	T	C	15: 4,811,394 (GRCm39)	I414T	probably benign	Het
C8b	T	A	4: 104,644,083 (GRCm39)	M250K	probably benign	Het
Camk1g	T	A	1: 193,044,393 (GRCm39)	E7V	probably benign	Het
Clcc1	A	G	3: 108,580,236 (GRCm39)		probably null	Het
Col4a3	G	T	1: 82,694,018 (GRCm39)		probably null	Het
Cox5b	T	A	1: 36,732,310 (GRCm39)	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,019,815 (GRCm39)	H251P	probably damaging	Het
Cyp2c67	G	A	19: 39,632,188 (GRCm39)	T60I	probably benign	Het
Defb42	T	A	14: 63,285,824 (GRCm39)	V68E	probably benign	Het
Ercc4	T	A	16: 12,941,287 (GRCm39)	I225N	probably damaging	Het
Fam120b	G	T	17: 15,622,658 (GRCm39)	C212F	probably damaging	Het
Fgf10	T	C	13: 118,918,045 (GRCm39)	V111A	probably benign	Het
Fn1	G	T	1: 71,629,967 (GRCm39)	T2186K	probably damaging	Het
Fras1	T	C	5: 96,929,518 (GRCm39)	V3974A	probably benign	Het
Galnt4	T	C	10: 98,944,362 (GRCm39)	V29A	probably benign	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,407,475 (GRCm39)	L236Q	probably damaging	Het
Hivep3	C	A	4: 119,955,020 (GRCm39)	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,708,069 (GRCm39)	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,185,783 (GRCm39)	Y69*	probably null	Het
Itgb1	G	A	8: 129,443,703 (GRCm39)	A320T	probably damaging	Het
Kcna2	T	C	3: 107,012,733 (GRCm39)	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545 (GRCm39)		probably null	Het
Klhl1	G	A	14: 96,389,402 (GRCm39)	T584I	probably benign	Het
Ltbp1	A	G	17: 75,532,199 (GRCm39)	D91G	probably damaging	Het
Mdga2	T	C	12: 66,844,427 (GRCm39)	I190M	probably damaging	Het
Meis2	G	A	2: 115,830,686 (GRCm39)	R276C	probably damaging	Het
Mob4	C	T	1: 55,191,855 (GRCm39)	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,114 (GRCm39)	I48T	possibly damaging	Het
Mst1	T	C	9: 107,960,826 (GRCm39)	V481A	probably benign	Het
Mttp	A	T	3: 137,821,832 (GRCm39)	V245E	possibly damaging	Het
Nbn	T	A	4: 15,981,470 (GRCm39)	S521T	probably benign	Het
Neb	G	T	2: 52,083,243 (GRCm39)	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,256,866 (GRCm39)	K161N	probably damaging	Het
Nod2	T	G	8: 89,390,902 (GRCm39)	F388C	possibly damaging	Het
Or3a1	G	T	11: 74,225,402 (GRCm39)	F218L	probably benign	Het
Or4a75	G	T	2: 89,447,814 (GRCm39)	H241N	possibly damaging	Het
Or4f58	A	G	2: 111,851,332 (GRCm39)	F289S	possibly damaging	Het
Or52e2	A	T	7: 102,804,332 (GRCm39)	N207K	probably benign	Het
Or7a38	T	A	10: 78,753,361 (GRCm39)	I229N	probably damaging	Het
Or7g25	G	A	9: 19,160,153 (GRCm39)	L181F	possibly damaging	Het
P2ry1	A	G	3: 60,911,898 (GRCm39)	S346G	probably benign	Het
Polr1f	T	A	12: 33,487,679 (GRCm39)		probably null	Het
Prkcd	A	G	14: 30,321,623 (GRCm39)	F524L	probably benign	Het
Qrfprl	T	C	6: 65,429,898 (GRCm39)	I198T	probably benign	Het
Ramp3	A	T	11: 6,624,843 (GRCm39)	M46L	probably benign	Het
Rint1	T	C	5: 24,014,791 (GRCm39)	Y278H	probably damaging	Het
Skint11	C	T	4: 114,051,874 (GRCm39)	T74I	probably benign	Het
Slc10a7	T	C	8: 79,433,579 (GRCm39)		probably null	Het
Slc45a2	T	A	15: 11,028,016 (GRCm39)	Y528*	probably null	Het
Slit1	A	G	19: 41,637,452 (GRCm39)	F329L	probably damaging	Het
Smad9	A	T	3: 54,701,874 (GRCm39)	T372S	possibly damaging	Het
Snrpc	T	A	17: 28,061,306 (GRCm39)	Y38*	probably null	Het
Spag17	A	G	3: 100,010,701 (GRCm39)	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,498,197 (GRCm39)	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,019,258 (GRCm39)		probably null	Het
Tgfb1i1	A	T	7: 127,848,571 (GRCm39)	M96L	probably damaging	Het
Tnc	T	A	4: 63,885,580 (GRCm39)	I1841F	probably damaging	Het
Ubap2	G	T	4: 41,211,771 (GRCm39)	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,632,580 (GRCm39)	N2592S	probably benign	Het
Xdh	G	A	17: 74,193,381 (GRCm39)	P1305L	probably benign	Het
Xrn1	G	A	9: 95,921,862 (GRCm39)	R1425K	probably benign	Het
Zfp418	G	A	7: 7,185,762 (GRCm39)	R575Q	possibly damaging	Het
Zfp608	T	A	18: 55,027,544 (GRCm39)	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,821,635 (GRCm39)	L150I	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
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
R8698:Sltm	UTSW	9	70,494,352 (GRCm39)	missense	probably benign	0.27
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'- ATGCACTGTACAGGACTAGGG -3'
(R):5'- CTCAGTGCTGCAAGAAAAGG -3'

Sequencing Primer
(F):5'- CAGGACTAGGGTCTTGGCTG -3'
(R):5'- GTCAGCTAGAACTCTCAAGCAGTCAG -3'

Posted On

2015-11-11