Mutagenetix > Incidental Mutation

Incidental Mutation 'R2899:Saraf'

261410

Institutional Source

Beutler Lab

Gene Symbol

Saraf

Ensembl Gene

ENSMUSG00000031532

Gene Name

store-operated calcium entry-associated regulatory factor

Synonyms

Tmem66, 1810045K07Rik

MMRRC Submission

040487-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34154575-34170821 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34161231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 77 (L77P)

Ref Sequence

ENSEMBL: ENSMUSP00000033933 (fasta)

Gene Model

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

AlphaFold

Q8R3Q0

Predicted Effect

probably damaging
Transcript: ENSMUST00000033933
AA Change: L77P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033933
Gene: ENSMUSG00000031532
AA Change: L77P

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: ENSMUST00000211637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211664

Meta Mutation Damage Score

0.9588

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,682	K211E	probably benign	Het
4930430A15Rik	C	A	2: 111,220,670		probably benign	Het
Amigo3	T	C	9: 108,054,154	S259P	probably benign	Het
Bahd1	C	T	2: 118,916,406	P169S	probably damaging	Het
Cd200r4	T	C	16: 44,833,365	I175T	probably damaging	Het
Cep131	T	C	11: 120,072,028	D425G	probably benign	Het
Clmp	T	C	9: 40,782,392	S302P	probably damaging	Het
Dusp6	T	C	10: 99,263,845	S52P	probably damaging	Het
Epha5	T	A	5: 84,233,808	I395F	probably damaging	Het
F5	A	G	1: 164,186,900	E580G	possibly damaging	Het
Fbxo3	T	A	2: 104,051,135	Y271N	probably damaging	Het
Fuca1	G	A	4: 135,923,012	W131*	probably null	Het
Gdf7	C	T	12: 8,298,470	A276T	unknown	Het
Limk1	A	T	5: 134,688,300		probably null	Het
Lrrc37a	G	A	11: 103,497,864	T2245I	unknown	Het
Neb	A	G	2: 52,185,323	I210T	probably benign	Het
Nf1	T	G	11: 79,412,758	N420K	possibly damaging	Het
Olfr1453	T	A	19: 13,027,694	I212F	probably damaging	Het
Pask	G	T	1: 93,334,547	T197K	probably damaging	Het
Pou4f3	T	C	18: 42,395,523	L177P	probably benign	Het
Rassf1	G	A	9: 107,554,194	G107R	probably null	Het
Rdx	T	C	9: 52,068,911		probably benign	Het
Syngap1	A	G	17: 26,959,985	E483G	probably damaging	Het
Tsku	T	C	7: 98,352,917	N69S	probably damaging	Het
Usp36	G	A	11: 118,276,756		probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zc3h6	T	C	2: 129,002,232	V232A	probably benign	Het
Zfp143	T	A	7: 110,072,129	S99R	probably damaging	Het
Zkscan3	A	T	13: 21,393,973	L219Q	probably damaging	Het

Other mutations in Saraf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Saraf	APN	8	34167808	missense	probably benign	0.01
R1615:Saraf	UTSW	8	34165288	missense	possibly damaging	0.75
R2679:Saraf	UTSW	8	34165274	missense	probably damaging	1.00
R2938:Saraf	UTSW	8	34168581	missense	probably benign	0.00
R4458:Saraf	UTSW	8	34154716	missense	unknown
R4661:Saraf	UTSW	8	34168462	missense	probably damaging	0.96
R4662:Saraf	UTSW	8	34168462	missense	probably damaging	0.96
R5029:Saraf	UTSW	8	34161258	missense	probably damaging	1.00
R5473:Saraf	UTSW	8	34161258	missense	probably damaging	1.00
R5627:Saraf	UTSW	8	34154645	start codon destroyed	probably null
R5776:Saraf	UTSW	8	34165450	missense	probably damaging	1.00
R5980:Saraf	UTSW	8	34165387	missense	probably benign	0.37
R6793:Saraf	UTSW	8	34168613	critical splice donor site	probably null
R8404:Saraf	UTSW	8	34165448	missense	probably benign	0.30
R8406:Saraf	UTSW	8	34165448	missense	probably benign	0.30
R8425:Saraf	UTSW	8	34165448	missense	probably benign	0.30
R9168:Saraf	UTSW	8	34165189	missense	possibly damaging	0.87
Z1177:Saraf	UTSW	8	34170095	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGACACTTGACTTTGAGCCTG -3'
(R):5'- TCATGTCTCCCCAGGAAGAG -3'

Sequencing Primer
(F):5'- TGAGCCTGCTCCTTAGGATGC -3'
(R):5'- ATCACTCCATGGGATGCCC -3'

Posted On

2015-01-23