Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00898:Sectm1b'

28473

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sectm1b

Ensembl Gene

ENSMUSG00000039364

Gene Name

secreted and transmembrane 1B

Synonyms

1810003C24Rik, Sectm1, K12

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL00898

Quality Score

Status

Chromosome

Chromosomal Location

120944284-120954395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120947075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 17 (W17R)

Ref Sequence

ENSEMBL: ENSMUSP00000116010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039309] [ENSMUST00000081499] [ENSMUST00000130786] [ENSMUST00000168459] [ENSMUST00000170381]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039309
AA Change: W17R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045748
Gene: ENSMUSG00000039364
AA Change: W17R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	40	134	1.81e-1	SMART
transmembrane domain	161	183	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000081499
AA Change: W17R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080217
Gene: ENSMUSG00000039364
AA Change: W17R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	40	134	1.81e-1	SMART
transmembrane domain	161	183	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130786
AA Change: W17R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116010
Gene: ENSMUSG00000039364
AA Change: W17R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	40	134	1.81e-1	SMART
transmembrane domain	160	182	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150577

Predicted Effect

probably damaging
Transcript: ENSMUST00000168459
AA Change: W17R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125965
Gene: ENSMUSG00000039364
AA Change: W17R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	40	134	1.81e-1	SMART
transmembrane domain	161	183	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170381
AA Change: W17R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126486
Gene: ENSMUSG00000039364
AA Change: W17R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	40	134	1.81e-1	SMART
transmembrane domain	161	183	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,783,690 (GRCm39)	G956S	probably damaging	Het
Alpk2	G	T	18: 65,483,644 (GRCm39)	D121E	probably benign	Het
Apc	A	G	18: 34,450,147 (GRCm39)	T2314A	probably damaging	Het
Arhgef11	T	C	3: 87,636,810 (GRCm39)	L990P	probably damaging	Het
Ccar1	T	A	10: 62,589,013 (GRCm39)	K823N	unknown	Het
Celsr2	C	T	3: 108,321,195 (GRCm39)	R539H	possibly damaging	Het
Clca3b	A	G	3: 144,550,389 (GRCm39)		probably benign	Het
Cpxcr1	T	C	X: 115,387,407 (GRCm39)	L106S	possibly damaging	Het
Edc4	T	A	8: 106,607,755 (GRCm39)	L16Q	probably damaging	Het
Emc1	A	G	4: 139,098,941 (GRCm39)	E808G	probably damaging	Het
Epha6	A	T	16: 59,595,904 (GRCm39)		probably null	Het
Epha7	G	A	4: 28,938,693 (GRCm39)	R516Q	probably damaging	Het
Fancm	T	C	12: 65,152,774 (GRCm39)	S1077P	probably benign	Het
Gm4952	C	T	19: 12,595,772 (GRCm39)	T54I	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Il1b	T	C	2: 129,209,253 (GRCm39)	R126G	possibly damaging	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Lamb3	A	T	1: 193,021,191 (GRCm39)	T923S	possibly damaging	Het
Lrp6	C	T	6: 134,456,702 (GRCm39)	S854N	probably damaging	Het
Ltv1	A	G	10: 13,058,031 (GRCm39)	F258L	probably damaging	Het
Mcm3ap	T	C	10: 76,306,159 (GRCm39)	S91P	probably benign	Het
Msra	A	G	14: 64,360,774 (GRCm39)	I125T	probably damaging	Het
Nr0b1	A	T	X: 85,236,077 (GRCm39)	Q224L	probably benign	Het
Nr2e1	T	A	10: 42,444,449 (GRCm39)	D220V	probably damaging	Het
Nup160	C	A	2: 90,523,450 (GRCm39)	H351Q	probably damaging	Het
Or5b96	T	A	19: 12,867,282 (GRCm39)	M220L	probably benign	Het
Pcdh12	C	A	18: 38,414,510 (GRCm39)	V872L	probably benign	Het
Pcnx2	T	A	8: 126,614,324 (GRCm39)	S376C	probably damaging	Het
Pkd2	A	G	5: 104,631,001 (GRCm39)	E475G	probably damaging	Het
Psg22	A	G	7: 18,458,392 (GRCm39)	Y322C	probably damaging	Het
Rgl2	T	C	17: 34,152,392 (GRCm39)	I363T	possibly damaging	Het
Rimklb	G	T	6: 122,433,590 (GRCm39)	Q187K	possibly damaging	Het
Snu13	C	A	15: 81,926,516 (GRCm39)	A60S	probably benign	Het
Sox30	T	A	11: 45,882,727 (GRCm39)	F586I	possibly damaging	Het
Tnfsfm13	C	A	11: 69,575,127 (GRCm39)	V220L	probably benign	Het
Ttn	A	T	2: 76,593,117 (GRCm39)	V20711E	probably damaging	Het
Vmn2r116	A	G	17: 23,604,969 (GRCm39)	N94S	possibly damaging	Het
Yipf2	T	C	9: 21,503,820 (GRCm39)		probably null	Het
Zzef1	T	C	11: 72,765,999 (GRCm39)	S1509P	probably benign	Het

Other mutations in Sectm1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Sectm1b	APN	11	120,946,799 (GRCm39)	missense	probably benign	0.02
IGL02071:Sectm1b	APN	11	120,946,761 (GRCm39)	missense	probably damaging	0.96
R0243:Sectm1b	UTSW	11	120,946,611 (GRCm39)	missense	probably damaging	1.00
R1483:Sectm1b	UTSW	11	120,946,652 (GRCm39)	missense	probably benign	0.14
R1862:Sectm1b	UTSW	11	120,945,768 (GRCm39)	missense	possibly damaging	0.92
R4647:Sectm1b	UTSW	11	120,946,760 (GRCm39)	missense	probably damaging	1.00
R5927:Sectm1b	UTSW	11	120,946,500 (GRCm39)	missense	probably benign
R6011:Sectm1b	UTSW	11	120,946,704 (GRCm39)	missense	possibly damaging	0.66
R7749:Sectm1b	UTSW	11	120,945,768 (GRCm39)	missense	possibly damaging	0.92
RF018:Sectm1b	UTSW	11	120,945,756 (GRCm39)	missense	probably benign	0.37

Posted On

2013-04-17