Mutagenetix > Incidental Mutation

Incidental Mutation 'R4632:Sltm'

349287

Institutional Source

Beutler Lab

Gene Symbol

Sltm

Ensembl Gene

ENSMUSG00000032212

Gene Name

SAFB-like, transcription modulator

Synonyms

5730455C01Rik, 5730555F13Rik, 9130215G10Rik

MMRRC Submission

041897-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R4632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70450036-70499516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70486651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 439 (S439P)

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: S439P

SMART Domains

Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: S439P

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

probably benign
Transcript: ENSMUST00000216816
AA Change: S421P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216881

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217593
AA Change: S439P

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,283,447 (GRCm39)	V44A	probably benign	Het
Abr	C	T	11: 76,399,845 (GRCm39)	G39R	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,156,208 (GRCm39)		probably null	Het
Agbl1	A	G	7: 76,063,433 (GRCm39)	T47A	probably benign	Het
Akap13	G	T	7: 75,316,301 (GRCm39)	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankar	T	A	1: 72,686,343 (GRCm39)	T1286S	probably benign	Het
Ankrd13c	A	G	3: 157,667,939 (GRCm39)	H166R	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arl16	A	G	11: 120,356,610 (GRCm39)	S130P	probably damaging	Het
Atp10a	A	T	7: 58,457,186 (GRCm39)	Q895L	possibly damaging	Het
Atp13a5	T	A	16: 29,167,537 (GRCm39)	R138W	probably damaging	Het
Auts2	G	A	5: 131,501,113 (GRCm39)	T309M	probably damaging	Het
C6	A	T	15: 4,789,350 (GRCm39)	K265I	probably benign	Het
Casz1	A	G	4: 149,036,312 (GRCm39)	T1525A	possibly damaging	Het
Cd200l1	T	G	16: 45,238,271 (GRCm39)	H181P	probably benign	Het
Chpf2	A	G	5: 24,796,829 (GRCm39)	T592A	probably benign	Het
Cilp	A	T	9: 65,187,162 (GRCm39)	T1086S	probably benign	Het
Cmip	A	G	8: 118,174,150 (GRCm39)	Y410C	possibly damaging	Het
Csmd3	A	G	15: 47,874,605 (GRCm39)	C560R	probably damaging	Het
Dchs1	T	A	7: 105,403,562 (GRCm39)	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,467,110 (GRCm39)	F3585L	probably damaging	Het
Dspp	A	G	5: 104,325,272 (GRCm39)	D545G	unknown	Het
Dusp7	T	A	9: 106,247,965 (GRCm39)	S198T	possibly damaging	Het
Ell2	A	T	13: 75,917,693 (GRCm39)	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Galntl6	T	A	8: 58,880,857 (GRCm39)	I99F	probably damaging	Het
Gnat3	G	A	5: 18,220,364 (GRCm39)		probably null	Het
Hykk	T	C	9: 54,853,800 (GRCm39)	I374T	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,450,886 (GRCm39)	I722V	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Krt13	A	G	11: 100,012,050 (GRCm39)	L91P	possibly damaging	Het
Krtap4-13	A	C	11: 99,700,354 (GRCm39)	S102A	unknown	Het
Lrp2	A	G	2: 69,319,473 (GRCm39)		probably null	Het
Lrriq1	C	T	10: 103,057,288 (GRCm39)	V171I	probably damaging	Het
Map3k4	C	G	17: 12,451,391 (GRCm39)	E1501Q	probably damaging	Het
Mapk11	C	T	15: 89,030,579 (GRCm39)	V105M	probably damaging	Het
Mlph	G	A	1: 90,867,108 (GRCm39)	A377T	probably damaging	Het
Myo9a	G	A	9: 59,776,947 (GRCm39)	C1115Y	probably benign	Het
Nabp1	A	T	1: 51,513,761 (GRCm39)	Y78*	probably null	Het
Nos2	T	C	11: 78,848,417 (GRCm39)	F1108S	possibly damaging	Het
Oas2	T	C	5: 120,871,546 (GRCm39)	K699R	probably benign	Het
Olfm5	T	C	7: 103,810,100 (GRCm39)	D87G	probably benign	Het
Oog3	A	G	4: 143,884,698 (GRCm39)	F413L	probably benign	Het
Or2c1	C	T	16: 3,656,951 (GRCm39)	T38M	probably damaging	Het
Pik3r4	A	G	9: 105,532,098 (GRCm39)	M557V	probably benign	Het
Pkhd1l1	A	G	15: 44,347,796 (GRCm39)	T224A	probably benign	Het
Pknox2	A	G	9: 36,805,709 (GRCm39)	S367P	probably benign	Het
Ppfia2	A	G	10: 106,671,905 (GRCm39)		probably null	Het
Ppm1e	G	A	11: 87,122,356 (GRCm39)	P534S	probably damaging	Het
Prepl	T	C	17: 85,390,659 (GRCm39)	T100A	probably benign	Het
Ptpn13	A	G	5: 103,717,726 (GRCm39)	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Samd12	T	A	15: 53,583,067 (GRCm39)	H89L	possibly damaging	Het
Sephs1	T	A	2: 4,901,571 (GRCm39)	V211E	probably benign	Het
Setx	C	T	2: 29,038,627 (GRCm39)	T1704I	probably benign	Het
Sort1	G	T	3: 108,253,994 (GRCm39)	Q553H	probably damaging	Het
Svs5	G	T	2: 164,079,667 (GRCm39)	T80N	probably benign	Het
Tanc1	C	A	2: 59,626,179 (GRCm39)	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,118,432 (GRCm39)	V188E	probably damaging	Het
Tesk2	C	T	4: 116,598,909 (GRCm39)	R6W	probably benign	Het
Tex101	G	T	7: 24,367,793 (GRCm39)	C186*	probably null	Het
Timp2	C	T	11: 118,194,598 (GRCm39)	S197N	probably benign	Het
Tmem37	A	T	1: 119,995,979 (GRCm39)	C33S	probably damaging	Het
Tmem69	T	C	4: 116,410,235 (GRCm39)	D245G	probably benign	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Ube2j2	T	A	4: 156,039,715 (GRCm39)	I14N	probably damaging	Het
Ush2a	T	A	1: 188,128,071 (GRCm39)	N694K	possibly damaging	Het
Utp20	A	G	10: 88,614,123 (GRCm39)	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,752,216 (GRCm39)	S753F	probably damaging	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Zap70	G	T	1: 36,817,539 (GRCm39)	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,302,741 (GRCm39)	W87R	probably damaging	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981 (GRCm39)	F501S	probably 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
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
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'- AGCGGACAGAATGATTCCCATAG -3'
(R):5'- TGTTGAGCATCCTAACCAAGAAC -3'

Sequencing Primer
(F):5'- GGACAGAATGATTCCCATAGTGTATC -3'
(R):5'- GCATCCTAACCAAGAACTCTGAAATG -3'

Posted On

2015-10-08