Mutagenetix > Incidental Mutation

Incidental Mutation 'R5980:Saraf'

481387

Institutional Source

Beutler Lab

Gene Symbol

Saraf

Ensembl Gene

ENSMUSG00000031532

Gene Name

store-operated calcium entry-associated regulatory factor

Synonyms

Tmem66, 1810045K07Rik

MMRRC Submission

044162-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34154575-34170821 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34165387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 207 (F207I)

Ref Sequence

ENSEMBL: ENSMUSP00000033933 (fasta)

Gene Model

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

AlphaFold

Q8R3Q0

Predicted Effect

probably benign
Transcript: ENSMUST00000033933
AA Change: F207I

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033933
Gene: ENSMUSG00000031532
AA Change: F207I

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,567,055	N508D	possibly damaging	Het
Ago1	C	T	4: 126,460,569		probably benign	Het
Apol6	A	T	15: 77,051,019	T163S	possibly damaging	Het
Arhgap27	T	C	11: 103,356,269	T33A	probably benign	Het
Atg7	C	A	6: 114,680,236	F132L	possibly damaging	Het
Cep104	C	A	4: 153,988,473	A396E	probably benign	Het
Cers4	T	A	8: 4,518,269	C107*	probably null	Het
Cntn6	T	C	6: 104,848,132	S878P	probably damaging	Het
Dnah6	T	C	6: 73,181,722	K633E	probably benign	Het
Dst	T	A	1: 34,182,891	I2592K	probably benign	Het
Ep400	G	A	5: 110,733,729		probably benign	Het
Fbn1	A	G	2: 125,315,404	C2320R	probably damaging	Het
Gm17677	A	C	9: 35,741,615	D51A	probably damaging	Het
Gpi1	A	G	7: 34,228,926		probably null	Het
Gse1	T	G	8: 120,229,637		probably benign	Het
Hid1	G	A	11: 115,350,948	T612I	possibly damaging	Het
Ighmbp2	G	T	19: 3,265,295	H708Q	probably benign	Het
Igkv10-95	T	C	6: 68,680,589	S10P	probably damaging	Het
Igkv14-100	T	C	6: 68,519,025	V5A	probably benign	Het
Irgq	G	A	7: 24,533,345	G204S	probably damaging	Het
Kansl1	T	C	11: 104,343,637	K681R	possibly damaging	Het
Kcnv1	C	A	15: 45,109,414	V358L	probably damaging	Het
Lrp2	A	T	2: 69,535,005	S275T	probably damaging	Het
Lysmd1	A	T	3: 95,137,908	D155V	probably damaging	Het
Magel2	A	T	7: 62,380,596	I1083F	unknown	Het
Mta3	T	A	17: 83,708,405	V12D	probably damaging	Het
Mtmr4	T	C	11: 87,604,151	I423T	probably damaging	Het
Mup11	A	G	4: 60,660,888	Y16H	possibly damaging	Het
Mycbp	G	A	4: 123,911,096	V91I	probably benign	Het
Ngly1	A	C	14: 16,270,509	Q72P	possibly damaging	Het
Nol4	T	A	18: 22,952,201	Q52L	probably damaging	Het
Nrcam	T	C	12: 44,571,633	V808A	probably damaging	Het
Olfr1058	A	T	2: 86,385,797	L207*	probably null	Het
Olfr9	A	G	10: 128,990,440	H176R	probably damaging	Het
Olfr993	A	T	2: 85,414,165	F238Y	probably damaging	Het
Pik3c2b	C	A	1: 133,088,308	D869E	probably benign	Het
Pom121l2	T	C	13: 21,983,376	S606P	probably damaging	Het
Prdm15	G	A	16: 97,812,570	R517*	probably null	Het
Ralgapa1	T	A	12: 55,770,616		probably null	Het
Sema6d	A	G	2: 124,664,708	D874G	probably damaging	Het
Sfrp5	A	T	19: 42,201,972	L14M	unknown	Het
Sidt1	A	T	16: 44,263,312	C485*	probably null	Het
Sptbn4	A	G	7: 27,372,171	Y1618H	probably damaging	Het
Syt14	T	C	1: 192,980,408	Q127R	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Ticrr	G	A	7: 79,660,955	A206T	probably damaging	Het
Tmem132d	T	A	5: 127,784,598	I820F	probably benign	Het
Trafd1	A	G	5: 121,373,457	Y433H	probably damaging	Het
Trim68	A	G	7: 102,678,831	V305A	probably damaging	Het
Vmn2r58	T	A	7: 41,865,056	Y163F	possibly damaging	Het
Vmn2r83	T	A	10: 79,478,792	H291Q	probably benign	Het
Vmn2r95	A	G	17: 18,441,362	I457V	probably benign	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
R2899:Saraf	UTSW	8	34161231	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
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'- GTCCTCTGAAGACCAGTATGTCC -3'
(R):5'- TCCTCTTCAAACCAGGCACG -3'

Sequencing Primer
(F):5'- TGAAGACCAGTATGTCCTCAGG -3'
(R):5'- ACGTGACTGGCCAGCTC -3'

Posted On

2017-06-26