Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00577:Sltm'

14146

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sltm

Ensembl Gene

ENSMUSG00000032212

Gene Name

SAFB-like, transcription modulator

Synonyms

5730455C01Rik, 5730555F13Rik, 9130215G10Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL00577

Quality Score

Status

Chromosome

Chromosomal Location

70450036-70499516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70486624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 430 (V430L)

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: V430L

SMART Domains

Protein: ENSMUSP00000049112
Gene: ENSMUSG00000032212
AA Change: V430L

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: V412L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216881

Predicted Effect

probably damaging
Transcript: ENSMUST00000217593
AA Change: V430L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	T	A	14: 44,239,458 (GRCm39)	Y90F	probably benign	Het
Arhgef6	T	A	X: 56,290,992 (GRCm39)		probably null	Het
Ccdc88a	A	G	11: 29,374,772 (GRCm39)	E115G	probably damaging	Het
Ceacam12	T	A	7: 17,801,186 (GRCm39)	V55E	probably damaging	Het
Depdc1a	A	T	3: 159,228,375 (GRCm39)	R376*	probably null	Het
Dop1a	A	T	9: 86,402,999 (GRCm39)	I1398F	probably damaging	Het
Eif2s1	T	G	12: 78,913,420 (GRCm39)	N40K	possibly damaging	Het
Epb41	T	A	4: 131,702,042 (GRCm39)	H531L	probably benign	Het
Frrs1	T	A	3: 116,696,049 (GRCm39)	W523R	probably damaging	Het
Gpatch8	T	C	11: 102,369,704 (GRCm39)	D1278G	probably damaging	Het
Mybpc1	C	T	10: 88,372,246 (GRCm39)	A795T	probably damaging	Het
Nrdc	T	C	4: 108,903,884 (GRCm39)		probably benign	Het
Os9	C	T	10: 126,933,845 (GRCm39)	R524K	probably benign	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Plekha5	T	A	6: 140,515,822 (GRCm39)		probably benign	Het
Prnp	A	G	2: 131,779,031 (GRCm39)	R228G	probably benign	Het
Prrc2c	G	A	1: 162,525,685 (GRCm39)	P307L	unknown	Het
Prss1	T	C	6: 41,439,645 (GRCm39)	V126A	possibly damaging	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Setdb1	T	C	3: 95,245,888 (GRCm39)	D678G	probably damaging	Het
Sphkap	A	G	1: 83,256,565 (GRCm39)	S395P	probably damaging	Het
Tas2r119	T	C	15: 32,177,599 (GRCm39)	I55T	probably damaging	Het
Tmc3	A	C	7: 83,252,682 (GRCm39)	E361A	probably null	Het
Uggt2	A	T	14: 119,272,312 (GRCm39)	S922T	possibly damaging	Het
Znhit1	A	T	5: 137,011,437 (GRCm39)	Y125*	probably null	Het

Other mutations in Sltm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06