Mutagenetix > Incidental Mutation

Incidental Mutation 'R9718:Sectm1a'

730621

Institutional Source

Beutler Lab

Gene Symbol

Sectm1a

Ensembl Gene

ENSMUSG00000025165

Gene Name

secreted and transmembrane 1A

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9718 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120958233-120972046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120960490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 108 (D108E)

Ref Sequence

ENSEMBL: ENSMUSP00000026162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026162] [ENSMUST00000100126] [ENSMUST00000106119] [ENSMUST00000106120]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026162
AA Change: D108E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026162
Gene: ENSMUSG00000025165
AA Change: D108E

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Blast:IG	39	133	2e-64	BLAST
SCOP:d1biha2	42	114	3e-3	SMART
transmembrane domain	165	187	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100126

SMART Domains

Protein: ENSMUSP00000097702
Gene: ENSMUSG00000025165

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106119

SMART Domains

Protein: ENSMUSP00000101725
Gene: ENSMUSG00000025165

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106120
AA Change: D108E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101726
Gene: ENSMUSG00000025165
AA Change: D108E

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Blast:IG	39	133	2e-64	BLAST
SCOP:d1biha2	42	114	2e-3	SMART
transmembrane domain	147	169	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	C	2: 32,465,247 (GRCm39)		probably benign	Het
Acvr1c	A	T	2: 58,206,007 (GRCm39)	D34E	probably benign	Het
Arhgef19	T	C	4: 140,976,603 (GRCm39)	V455A	probably damaging	Het
Cbfa2t3	T	A	8: 123,364,936 (GRCm39)	D282V	probably benign	Het
Ccl9	T	A	11: 83,466,238 (GRCm39)	N114I	probably benign	Het
Cdan1	G	T	2: 120,554,650 (GRCm39)	A875E	probably damaging	Het
Celf2	A	T	2: 6,726,349 (GRCm39)	F61L	probably damaging	Het
Chd9	T	C	8: 91,712,801 (GRCm39)	Y875H	unknown	Het
Ckap5	A	T	2: 91,379,177 (GRCm39)	K39M	probably benign	Het
Clcn3	T	C	8: 61,390,434 (GRCm39)	H169R	possibly damaging	Het
Csmd3	C	A	15: 47,560,083 (GRCm39)	V1416F		Het
Cyp4v3	A	T	8: 45,773,703 (GRCm39)	H155Q	probably damaging	Het
Dhx36	A	G	3: 62,379,466 (GRCm39)	F874S	possibly damaging	Het
Dnah14	A	T	1: 181,450,544 (GRCm39)	Q719L	probably benign	Het
Evi2	C	T	11: 79,406,583 (GRCm39)	V331M	probably damaging	Het
Fcgrt	T	G	7: 44,744,853 (GRCm39)	E205A	possibly damaging	Het
Fkrp	G	T	7: 16,545,112 (GRCm39)	T250N	probably benign	Het
Ftdc1	A	G	16: 58,434,974 (GRCm39)	L117S	probably benign	Het
Galc	G	A	12: 98,225,573 (GRCm39)	P6S		Het
Gm5134	A	T	10: 75,828,331 (GRCm39)	M304L	possibly damaging	Het
Haao	T	C	17: 84,142,215 (GRCm39)	E208G	probably damaging	Het
Hook1	T	A	4: 95,904,678 (GRCm39)	H553Q	probably benign	Het
Igdcc3	A	G	9: 65,090,280 (GRCm39)		probably null	Het
Ighv10-3	C	T	12: 114,487,254 (GRCm39)	V56I	probably benign	Het
Ighv1-62-1	G	T	12: 115,350,705 (GRCm39)	A15E	probably benign	Het
Krtap24-1	T	C	16: 88,408,378 (GRCm39)	*249W	probably null	Het
Ktn1	T	G	14: 47,910,508 (GRCm39)	I318R	probably damaging	Het
L3mbtl2	A	G	15: 81,572,123 (GRCm39)	T710A	unknown	Het
Ldha	A	T	7: 46,504,456 (GRCm39)	Q326L	possibly damaging	Het
Map4	G	A	9: 109,901,774 (GRCm39)		probably null	Het
Mdfic	T	A	6: 15,770,514 (GRCm39)	H173Q	probably damaging	Het
Noxred1	T	A	12: 87,271,692 (GRCm39)	Q159L	possibly damaging	Het
Omd	T	C	13: 49,743,336 (GRCm39)	S129P	probably damaging	Het
Or14j3	C	T	17: 37,900,914 (GRCm39)	G110D	probably benign	Het
Or52r1c	T	C	7: 102,735,196 (GRCm39)	V152A	probably benign	Het
Parp16	A	G	9: 65,141,009 (GRCm39)	Y193C	probably damaging	Het
Pdzk1	A	G	3: 96,763,174 (GRCm39)	T201A		Het
Phldb2	T	A	16: 45,601,756 (GRCm39)	H728L	possibly damaging	Het
Prrt1b	A	T	2: 29,637,548 (GRCm39)	L42Q	probably damaging	Het
Ptchd4	C	T	17: 42,813,641 (GRCm39)	T514I	probably damaging	Het
Pusl1	T	C	4: 155,976,094 (GRCm39)	D24G	probably benign	Het
Rai1	G	A	11: 60,080,165 (GRCm39)	A1410T	probably benign	Het
Rint1	T	A	5: 24,005,721 (GRCm39)	H134Q	possibly damaging	Het
Rnf170	A	G	8: 26,619,243 (GRCm39)	S156G	unknown	Het
Rtf1	A	G	2: 119,535,986 (GRCm39)	D180G	possibly damaging	Het
Senp7	T	A	16: 55,944,277 (GRCm39)	D200E	probably damaging	Het
Sfswap	A	G	5: 129,616,848 (GRCm39)	S431G	probably benign	Het
Sh3bp4	T	A	1: 89,073,472 (GRCm39)	D773E	probably damaging	Het
Shprh	T	C	10: 11,089,248 (GRCm39)	L1662P	probably damaging	Het
Slx4	G	T	16: 3,804,328 (GRCm39)	P829T	possibly damaging	Het
Snapc4	A	T	2: 26,268,533 (GRCm39)	S43T	probably damaging	Het
Ssh3	C	T	19: 4,312,437 (GRCm39)	R636Q	probably benign	Het
Strn4	G	A	7: 16,572,496 (GRCm39)	V679M	probably damaging	Het
Tas2r121	T	G	6: 132,677,765 (GRCm39)	Y69S	probably benign	Het
Tcerg1	C	T	18: 42,663,836 (GRCm39)	T341M	unknown	Het
Tjp2	A	C	19: 24,078,207 (GRCm39)	S895R	probably damaging	Het
Tmem220	G	T	11: 66,916,086 (GRCm39)	A28S	probably damaging	Het
Trdv1	G	A	14: 54,119,663 (GRCm39)	C109Y	probably damaging	Het
Trpc6	A	G	9: 8,634,190 (GRCm39)	Y423C	probably damaging	Het
Ttn	T	C	2: 76,625,027 (GRCm39)	M15184V	possibly damaging	Het
Ugt2b37	T	A	5: 87,390,802 (GRCm39)	Y355F	probably benign	Het
Vnn3	C	T	10: 23,745,454 (GRCm39)	R468*	probably null	Het
Washc5	T	A	15: 59,217,192 (GRCm39)	T792S	probably benign	Het
Wdfy4	T	C	14: 32,847,893 (GRCm39)	M820V		Het
Zfp961	T	A	8: 72,721,933 (GRCm39)	C149S	possibly damaging	Het
Zmat4	G	A	8: 24,238,507 (GRCm39)	V30M	probably damaging	Het

Other mutations in Sectm1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01664:Sectm1a	APN	11	120,959,870 (GRCm39)	missense	possibly damaging	0.55
R0571:Sectm1a	UTSW	11	120,959,928 (GRCm39)	intron	probably benign
R1987:Sectm1a	UTSW	11	120,960,506 (GRCm39)	missense	probably damaging	1.00
R2023:Sectm1a	UTSW	11	120,960,408 (GRCm39)	splice site	probably benign
R3157:Sectm1a	UTSW	11	120,959,603 (GRCm39)	missense	probably benign	0.19
R3158:Sectm1a	UTSW	11	120,959,603 (GRCm39)	missense	probably benign	0.19
R4463:Sectm1a	UTSW	11	120,960,477 (GRCm39)	missense	probably benign
R4664:Sectm1a	UTSW	11	120,960,552 (GRCm39)	missense	possibly damaging	0.76
R7241:Sectm1a	UTSW	11	120,960,708 (GRCm39)	missense	possibly damaging	0.46
R7418:Sectm1a	UTSW	11	120,960,119 (GRCm39)	splice site	probably null
R7712:Sectm1a	UTSW	11	120,959,631 (GRCm39)	missense	probably damaging	0.99
R8990:Sectm1a	UTSW	11	120,960,701 (GRCm39)	missense	probably damaging	1.00
R9100:Sectm1a	UTSW	11	120,960,569 (GRCm39)	missense	possibly damaging	0.90
R9200:Sectm1a	UTSW	11	120,960,473 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGGACAGATTAAGTTCCTCTG -3'
(R):5'- GCAGTGATGACCTGTAACATCTC -3'

Sequencing Primer
(F):5'- GAAATATCAAAATCTTTGCCTTCCCC -3'
(R):5'- GTGATGACCTGTAACATCTCTAACAC -3'

Posted On

2022-10-06