Mutagenetix > Incidental Mutation

Incidental Mutation 'R2938:Saraf'

256109

Institutional Source

Beutler Lab

Gene Symbol

Saraf

Ensembl Gene

ENSMUSG00000031532

Gene Name

store-operated calcium entry-associated regulatory factor

Synonyms

Tmem66, 1810045K07Rik

MMRRC Submission

040515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2938 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

34621733-34638001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34635735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 346 (N346D)

Ref Sequence

ENSEMBL: ENSMUSP00000033933 (fasta)

Gene Model

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

AlphaFold

Q8R3Q0

Predicted Effect

probably benign
Transcript: ENSMUST00000033933
AA Change: N346D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000033933
Gene: ENSMUSG00000031532
AA Change: N346D

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

0.0759

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	T	A	2: 166,736,653 (GRCm39)	I1775K	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Astn2	A	T	4: 65,910,550 (GRCm39)	H427Q	possibly damaging	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc73	T	A	2: 104,805,980 (GRCm39)	L296*	probably null	Het
Cd40	G	C	2: 164,911,622 (GRCm39)	V191L	probably benign	Het
Cdc6	A	G	11: 98,801,586 (GRCm39)	I217V	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Cstl1	T	A	2: 148,592,977 (GRCm39)	I44N	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,222,900 (GRCm39)	T1000S	probably benign	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Gpr83	A	G	9: 14,776,167 (GRCm39)	T163A	probably benign	Het
Hmgcr	G	A	13: 96,799,576 (GRCm39)	L173F	probably damaging	Het
Htr2b	T	A	1: 86,030,177 (GRCm39)	I173F	possibly damaging	Het
Ifna11	T	C	4: 88,738,530 (GRCm39)	L112P	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Macf1	T	C	4: 123,326,695 (GRCm39)	N2815S	probably damaging	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Man2b2	A	G	5: 36,978,330 (GRCm39)	I318T	probably benign	Het
Mib1	T	A	18: 10,752,033 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,795,803 (GRCm39)	S1315T	probably damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Opcml	A	G	9: 27,702,682 (GRCm39)	M1V	probably null	Het
Or4d5	A	T	9: 40,012,039 (GRCm39)	I249K	probably benign	Het
Or5m3	T	C	2: 85,838,357 (GRCm39)	M79T	probably damaging	Het
Or6c66b	T	A	10: 129,376,484 (GRCm39)	F26Y	probably damaging	Het
Parm1	T	C	5: 91,742,328 (GRCm39)	I232T	possibly damaging	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Pfkfb2	G	A	1: 130,633,147 (GRCm39)	T202I	possibly damaging	Het
Postn	T	A	3: 54,277,731 (GRCm39)	F242Y	probably damaging	Het
Prss12	A	G	3: 123,280,625 (GRCm39)	T437A	probably benign	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Sec31b	T	C	19: 44,524,618 (GRCm39)	D93G	probably damaging	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Sh3rf2	A	G	18: 42,282,789 (GRCm39)	D449G	probably benign	Het
Slc9a3	T	C	13: 74,269,788 (GRCm39)	I52T	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,649,561 (GRCm39)	D670G	probably damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdsub1	T	C	2: 59,703,630 (GRCm39)	T112A	possibly damaging	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Zfp808	G	A	13: 62,319,032 (GRCm39)	V67M	probably benign	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
R1615:Saraf	UTSW	8	34,632,442 (GRCm39)	missense	possibly damaging	0.75
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
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'- TCTGATGACTTAGAAACCAGGAAGG -3'
(R):5'- GGCACTGTTTAAGGCGTGAG -3'

Sequencing Primer
(F):5'- CCAGGAAGGAGCTGTAAATTGTG -3'
(R):5'- AGGAAGAATGGCTGAGTTCTCTC -3'

Posted On

2014-12-29