Mutagenetix > Incidental Mutation

Incidental Mutation 'R2885:Sit1'

261002

Institutional Source

Beutler Lab

Gene Symbol

Sit1

Ensembl Gene

ENSMUSG00000028460

Gene Name

suppression inducing transmembrane adaptor 1

Synonyms

Sit

MMRRC Submission

040473-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R2885 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43482083-43483709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43483314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 50 (R50H)

Ref Sequence

ENSEMBL: ENSMUSP00000030180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030180]

AlphaFold

Q8C503

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030180
AA Change: R50H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030180
Gene: ENSMUSG00000028460
AA Change: R50H

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123526

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (37/37)

MGI Phenotype

PHENOTYPE: Homozygous null mice exhibit altered T-cell development, thymus hyperplasia, decreased lymph node cellularity and are more susceptible to develop experimental autoimmune encephalomyelitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 80,749,940 (GRCm39)	S1453G	probably damaging	Het
Arhgap27	T	C	11: 103,251,669 (GRCm39)		probably null	Het
Casp1	A	T	9: 5,299,851 (GRCm39)	H108L	probably benign	Het
Cerk	A	G	15: 86,027,084 (GRCm39)	F142S	probably damaging	Het
Cmip	A	G	8: 118,111,704 (GRCm39)	N145S	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyp4b1	C	T	4: 115,492,849 (GRCm39)	D287N	probably damaging	Het
Dlx2	G	A	2: 71,375,808 (GRCm39)	R172*	probably null	Het
Dnah11	G	A	12: 117,951,162 (GRCm39)	Q1145*	probably null	Het
Dock2	A	T	11: 34,580,593 (GRCm39)	I659N	probably damaging	Het
Dync2h1	G	C	9: 7,102,329 (GRCm39)	F2690L	probably damaging	Het
Fcrl5	A	G	3: 87,364,698 (GRCm39)	Y566C	probably damaging	Het
Ift57	T	C	16: 49,584,114 (GRCm39)	V289A	probably damaging	Het
Lrrc46	G	A	11: 96,925,806 (GRCm39)	R219C	probably damaging	Het
Mapk1	A	G	16: 16,844,309 (GRCm39)	N269S	probably benign	Het
Mrgprb1	A	T	7: 48,097,469 (GRCm39)	Y148N	probably damaging	Het
Mzt2	G	T	16: 15,680,780 (GRCm39)	A3E	unknown	Het
Naif1	C	T	2: 32,344,887 (GRCm39)	P197L	probably benign	Het
Obscn	A	T	11: 58,977,574 (GRCm39)	V1959E	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Phf12	T	C	11: 77,914,595 (GRCm39)	I130T	possibly damaging	Het
Plekhg3	T	C	12: 76,611,735 (GRCm39)	V338A	probably benign	Het
Prl3b1	A	T	13: 27,433,505 (GRCm39)	N220I	probably damaging	Het
Rusc2	A	G	4: 43,415,456 (GRCm39)	Q254R	probably benign	Het
Ryr1	G	T	7: 28,774,223 (GRCm39)	R2404S	probably damaging	Het
Setdb1	A	G	3: 95,247,506 (GRCm39)	I463T	probably benign	Het
Setx	T	G	2: 29,038,637 (GRCm39)	C1707W	probably damaging	Het
Siglec1	A	G	2: 130,914,667 (GRCm39)	F1483S	possibly damaging	Het
Sis	G	A	3: 72,816,506 (GRCm39)	P1515S	probably benign	Het
Smc6	T	C	12: 11,326,294 (GRCm39)	V97A	probably damaging	Het
Ttc39d	A	G	17: 80,524,144 (GRCm39)	S268G	probably benign	Het
Ube2frt	A	G	12: 36,140,574 (GRCm39)		probably benign	Het
Utrn	A	T	10: 12,615,105 (GRCm39)		probably null	Het
Vmn2r60	T	A	7: 41,790,403 (GRCm39)	D463E	possibly damaging	Het
Vmn2r91	A	T	17: 18,325,628 (GRCm39)	Y82F	probably benign	Het
Zfp709	A	T	8: 72,643,549 (GRCm39)	D325V	probably benign	Het
Znrf3	A	T	11: 5,239,693 (GRCm39)	D58E	probably damaging	Het

Other mutations in Sit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02859:Sit1	APN	4	43,482,831 (GRCm39)	missense	probably benign	0.01
R0324:Sit1	UTSW	4	43,482,815 (GRCm39)	nonsense	probably null
R0483:Sit1	UTSW	4	43,482,991 (GRCm39)	missense	possibly damaging	0.52
R2679:Sit1	UTSW	4	43,483,157 (GRCm39)	missense	probably damaging	1.00
R2886:Sit1	UTSW	4	43,483,314 (GRCm39)	missense	possibly damaging	0.93
R5644:Sit1	UTSW	4	43,483,562 (GRCm39)	missense	probably benign	0.38
R6154:Sit1	UTSW	4	43,482,981 (GRCm39)	missense	probably benign	0.44
R6264:Sit1	UTSW	4	43,482,651 (GRCm39)	missense	possibly damaging	0.94
R6694:Sit1	UTSW	4	43,483,311 (GRCm39)	missense	probably damaging	0.97
R6796:Sit1	UTSW	4	43,482,761 (GRCm39)	missense	probably benign	0.00
R8345:Sit1	UTSW	4	43,483,168 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TAGTGCAGGTTGCCATACAG -3'
(R):5'- TCAACTCGCATGGGGTAAGC -3'

Sequencing Primer
(F):5'- TTGCCATACAGGGGAACTTC -3'
(R):5'- ATGTGGTTCCATGTTCTATCTGATC -3'

Posted On

2015-01-23