Mutagenetix > Incidental Mutation

Incidental Mutation 'R1615:Saraf'

177051

Institutional Source

Beutler Lab

Gene Symbol

Saraf

Ensembl Gene

ENSMUSG00000031532

Gene Name

store-operated calcium entry-associated regulatory factor

Synonyms

Tmem66, 1810045K07Rik

MMRRC Submission

039652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34621733-34638001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34632442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 174 (K174E)

Ref Sequence

ENSEMBL: ENSMUSP00000033933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033933]

AlphaFold

Q8R3Q0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033933
AA Change: K174E

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033933
Gene: ENSMUSG00000031532
AA Change: K174E

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:SARAF	48	363	4.8e-98	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211664

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 88.8%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,743,625 (GRCm39)	C328S	probably benign	Het
Adgrv1	G	T	13: 81,572,407 (GRCm39)	T4918K	probably benign	Het
Aen	T	C	7: 78,555,660 (GRCm39)	Y108H	probably damaging	Het
Amer3	T	C	1: 34,627,252 (GRCm39)	M497T	probably damaging	Het
Arid2	C	T	15: 96,269,535 (GRCm39)	T1216M	possibly damaging	Het
Birc6	A	G	17: 74,916,404 (GRCm39)		probably null	Het
Bzw2	A	G	12: 36,169,126 (GRCm39)		probably benign	Het
Ccr1	T	C	9: 123,763,573 (GRCm39)	H319R	probably benign	Het
Dnah11	A	G	12: 118,014,457 (GRCm39)	I2010T	probably damaging	Het
Dnhd1	A	G	7: 105,352,413 (GRCm39)	Y2522C	probably benign	Het
Dnhd1	T	A	7: 105,362,913 (GRCm39)	I3825K	possibly damaging	Het
Dst	A	T	1: 34,238,452 (GRCm39)	D3718V	probably damaging	Het
Esp36	A	G	17: 38,730,330 (GRCm39)		probably benign	Het
Fbxw21	T	C	9: 108,972,794 (GRCm39)	Y380C	probably damaging	Het
Fhad1	G	A	4: 141,649,634 (GRCm39)	T836M	probably damaging	Het
Fhod1	C	T	8: 106,074,463 (GRCm39)		probably benign	Het
Flt1	A	G	5: 147,576,098 (GRCm39)	C637R	probably damaging	Het
Fmnl2	A	G	2: 53,008,436 (GRCm39)	K809E	probably damaging	Het
Grm1	G	T	10: 10,617,252 (GRCm39)	Y510*	probably null	Het
Hey1	A	T	3: 8,729,898 (GRCm39)	H186Q	possibly damaging	Het
Insyn1	C	T	9: 58,406,351 (GRCm39)	A87V	probably damaging	Het
Itga2b	C	T	11: 102,350,963 (GRCm39)		probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Lmcd1	A	G	6: 112,250,911 (GRCm39)	D7G	probably benign	Het
Lrrc1	T	C	9: 77,342,400 (GRCm39)	D358G	possibly damaging	Het
Lyn	A	G	4: 3,748,765 (GRCm39)	K248E	probably benign	Het
Map4k4	A	G	1: 40,045,990 (GRCm39)		probably benign	Het
Map4k5	A	T	12: 69,891,187 (GRCm39)	L160H	probably damaging	Het
Mtcl2	T	G	2: 156,862,663 (GRCm39)	H1422P	probably damaging	Het
Myo6	C	T	9: 80,215,007 (GRCm39)	R1247C	probably damaging	Het
Myo9a	A	G	9: 59,695,739 (GRCm39)	E347G	possibly damaging	Het
Ndfip1	C	T	18: 38,593,672 (GRCm39)	P213S	probably benign	Het
Neurl3	T	C	1: 36,308,470 (GRCm39)	E114G	possibly damaging	Het
Nlrp14	A	T	7: 106,795,370 (GRCm39)	I877F	probably benign	Het
Obscn	A	G	11: 58,990,651 (GRCm39)	S1733P	probably benign	Het
Oxgr1	A	T	14: 120,260,185 (GRCm39)	S7R	probably benign	Het
Plcb1	A	T	2: 135,204,364 (GRCm39)		probably benign	Het
Prkag2	G	T	5: 25,080,176 (GRCm39)	N120K	possibly damaging	Het
Rnf43	C	T	11: 87,622,485 (GRCm39)	R529*	probably null	Het
Scrib	T	C	15: 75,938,054 (GRCm39)	Q264R	probably benign	Het
Sh3rf3	T	A	10: 58,966,899 (GRCm39)	M747K	probably benign	Het
Shf	T	C	2: 122,179,913 (GRCm39)	H421R	probably damaging	Het
Slc35g3	A	G	11: 69,651,368 (GRCm39)	S228P	probably damaging	Het
Slit1	A	G	19: 41,639,110 (GRCm39)		probably benign	Het
Srrm4	A	G	5: 116,585,359 (GRCm39)		probably benign	Het
Stfa1	T	G	16: 36,100,829 (GRCm39)	V23G	probably damaging	Het
Swap70	A	G	7: 109,872,498 (GRCm39)	D371G	probably benign	Het
Tada2a	T	C	11: 83,993,926 (GRCm39)	D186G	probably damaging	Het
Tdpoz3	C	A	3: 93,733,618 (GRCm39)	Q98K	probably benign	Het
Tgfbrap1	A	G	1: 43,091,145 (GRCm39)	V660A	probably benign	Het
Tnn	A	G	1: 159,945,978 (GRCm39)	Y947H	possibly damaging	Het
Trim60	A	T	8: 65,453,162 (GRCm39)	C362*	probably null	Het
Vmn1r81	T	A	7: 11,994,441 (GRCm39)	N56Y	probably damaging	Het
Vsig8	A	G	1: 172,387,280 (GRCm39)	D52G	probably damaging	Het
Wdfy4	G	A	14: 32,764,469 (GRCm39)	R2140C	probably damaging	Het

Other mutations in Saraf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Saraf	APN	8	34,634,962 (GRCm39)	missense	probably benign	0.01
R2679:Saraf	UTSW	8	34,632,428 (GRCm39)	missense	probably damaging	1.00
R2899:Saraf	UTSW	8	34,628,385 (GRCm39)	missense	probably damaging	1.00
R2938:Saraf	UTSW	8	34,635,735 (GRCm39)	missense	probably benign	0.00
R4458:Saraf	UTSW	8	34,621,870 (GRCm39)	missense	unknown
R4661:Saraf	UTSW	8	34,635,616 (GRCm39)	missense	probably damaging	0.96
R4662:Saraf	UTSW	8	34,635,616 (GRCm39)	missense	probably damaging	0.96
R5029:Saraf	UTSW	8	34,628,412 (GRCm39)	missense	probably damaging	1.00
R5473:Saraf	UTSW	8	34,628,412 (GRCm39)	missense	probably damaging	1.00
R5627:Saraf	UTSW	8	34,621,799 (GRCm39)	start codon destroyed	probably null
R5776:Saraf	UTSW	8	34,632,604 (GRCm39)	missense	probably damaging	1.00
R5980:Saraf	UTSW	8	34,632,541 (GRCm39)	missense	probably benign	0.37
R6793:Saraf	UTSW	8	34,635,767 (GRCm39)	critical splice donor site	probably null
R8404:Saraf	UTSW	8	34,632,602 (GRCm39)	missense	probably benign	0.30
R8406:Saraf	UTSW	8	34,632,602 (GRCm39)	missense	probably benign	0.30
R8425:Saraf	UTSW	8	34,632,602 (GRCm39)	missense	probably benign	0.30
R9168:Saraf	UTSW	8	34,632,343 (GRCm39)	missense	possibly damaging	0.87
Z1177:Saraf	UTSW	8	34,637,249 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCACCCAGTAGACCTAGTCTCTG -3'
(R):5'- CCTGTGAACTCCGACTTAAAGCCC -3'

Sequencing Primer
(F):5'- GCAAAACTGTGGTGAGCTGT -3'
(R):5'- CTGGCAAACCTCTGAGAGTG -3'

Posted On

2014-04-24