Mutagenetix > Incidental Mutation

Incidental Mutation 'R5627:Saraf'

441890

Institutional Source

Beutler Lab

Gene Symbol

Saraf

Ensembl Gene

ENSMUSG00000031532

Gene Name

store-operated calcium entry-associated regulatory factor

Synonyms

Tmem66, 1810045K07Rik

MMRRC Submission

043166-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5627 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34621733-34638001 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 34621799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000033933 (fasta)

Gene Model

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

AlphaFold

Q8R3Q0

Predicted Effect

probably null
Transcript: ENSMUST00000033933
AA Change: M1K

SMART Domains

Protein: ENSMUSP00000033933
Gene: ENSMUSG00000031532
AA Change: M1K

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: ENSMUST00000209470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211664

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Abl1	T	C	2: 31,690,595 (GRCm39)	W705R	probably benign	Het
Alpk1	A	T	3: 127,474,296 (GRCm39)	V569D	probably damaging	Het
Ano3	T	C	2: 110,587,298 (GRCm39)	N425S	possibly damaging	Het
Atad2b	A	G	12: 4,967,911 (GRCm39)	D68G	probably benign	Het
Cacna1e	A	G	1: 154,511,604 (GRCm39)	I173T	probably damaging	Het
Cenpe	G	T	3: 134,941,234 (GRCm39)	L716F	possibly damaging	Het
Cep85	A	T	4: 133,861,408 (GRCm39)	L622Q	probably damaging	Het
Cep97	A	G	16: 55,745,330 (GRCm39)		probably null	Het
Ces1f	A	T	8: 94,006,327 (GRCm39)	M1K	probably null	Het
Chil5	A	G	3: 105,926,951 (GRCm39)	L228P	probably damaging	Het
Col22a1	T	C	15: 71,853,767 (GRCm39)	E265G	probably damaging	Het
Col3a1	T	C	1: 45,370,720 (GRCm39)		probably benign	Het
Cyp3a59	T	A	5: 146,049,664 (GRCm39)	D497E	probably benign	Het
Egfem1	G	T	3: 29,722,548 (GRCm39)	E175*	probably null	Het
Eif4g2	A	G	7: 110,673,446 (GRCm39)	Y778H	probably benign	Het
Fam98b	T	C	2: 117,098,414 (GRCm39)	C295R	probably damaging	Het
Gm3149	A	T	14: 15,702,790 (GRCm39)	I246L	probably benign	Het
Gm5134	A	G	10: 75,821,942 (GRCm39)	T259A	possibly damaging	Het
Gm5150	A	G	3: 16,017,564 (GRCm39)	Y236H	probably damaging	Het
Golga2	C	A	2: 32,196,059 (GRCm39)	Y864*	probably null	Het
Inpp4a	A	G	1: 37,406,854 (GRCm39)	D199G	probably damaging	Het
Inpp4b	T	C	8: 82,470,445 (GRCm39)		probably benign	Het
Kremen1	T	C	11: 5,149,709 (GRCm39)	T321A	probably benign	Het
Map3k3	A	G	11: 106,039,428 (GRCm39)	S250G	probably benign	Het
Mtmr10	A	T	7: 63,986,500 (GRCm39)	K526M	probably damaging	Het
Nbea	C	T	3: 55,899,766 (GRCm39)	C1461Y	probably damaging	Het
Nckap5l	A	T	15: 99,325,587 (GRCm39)	N305K	possibly damaging	Het
Nup210l	A	T	3: 90,051,557 (GRCm39)	Y567F	probably damaging	Het
Or11g26	A	G	14: 50,753,257 (GRCm39)	M199V	probably benign	Het
Or14c39	G	T	7: 86,344,347 (GRCm39)	V228F	possibly damaging	Het
Or4a70	A	T	2: 89,324,388 (GRCm39)	N89K	probably benign	Het
Or56b2	G	A	7: 104,337,377 (GRCm39)	V52M	probably benign	Het
Or5b96	T	A	19: 12,867,663 (GRCm39)	I93F	probably damaging	Het
Or5g25	T	A	2: 85,477,991 (GRCm39)	I225F	probably damaging	Het
Rcc1	T	C	4: 132,065,454 (GRCm39)	R57G	probably damaging	Het
Rfx7	C	T	9: 72,440,066 (GRCm39)		probably benign	Het
Serpinb9d	C	T	13: 33,386,676 (GRCm39)	T248I	probably damaging	Het
Slc38a6	A	G	12: 73,390,457 (GRCm39)	I254M	possibly damaging	Het
Slc6a5	A	G	7: 49,561,522 (GRCm39)	D18G	possibly damaging	Het
Supt20	A	G	3: 54,620,611 (GRCm39)	D389G	possibly damaging	Het
Tecpr2	T	A	12: 110,907,916 (GRCm39)	I1001K	probably damaging	Het
Vcan	CAAAA	CAA	13: 89,839,254 (GRCm39)		probably null	Het
Wdr36	T	A	18: 32,994,691 (GRCm39)	D717E	possibly damaging	Het
Zfp318	T	C	17: 46,724,062 (GRCm39)	S2022P	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
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
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
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'- CCGGAACATTTGAGCACTCG -3'
(R):5'- ACTCACCAGGGTCGTTCCAG -3'

Sequencing Primer
(F):5'- GTACCACGGTACTGACAAGTC -3'
(R):5'- AGGGTCGTTCCAGCCCAG -3'

Posted On

2016-11-08