Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03018:Samd7'

407965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Samd7

Ensembl Gene

ENSMUSG00000051860

Gene Name

sterile alpha motif domain containing 7

Synonyms

4930597A01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL03018

Quality Score

Status

Chromosome

Chromosomal Location

30800481-30821323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30816294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 347 (K347E)

Ref Sequence

ENSEMBL: ENSMUSP00000103897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108262] [ENSMUST00000172593] [ENSMUST00000174395]

AlphaFold

Q8C8Y5

Predicted Effect

probably damaging
Transcript: ENSMUST00000108262
AA Change: K347E

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

SMART Domains

Protein: ENSMUSP00000103897
Gene: ENSMUSG00000051860
AA Change: K347E

Domain	Start	End	E-Value	Type
SAM	321	388	2.12e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172593

Predicted Effect

probably benign
Transcript: ENSMUST00000174395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192872

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout reduces the sensitivity of the retinal rods to low-to-moderate flash luminescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,752,451 (GRCm39)	V474E	probably damaging	Het
Cpsf6	A	T	10: 117,203,861 (GRCm39)	D30E	probably benign	Het
Dnai7	A	G	6: 145,129,031 (GRCm39)	F394S	probably damaging	Het
Edem1	T	C	6: 108,806,103 (GRCm39)	F135L	probably damaging	Het
Elf3	C	T	1: 135,183,803 (GRCm39)	E239K	possibly damaging	Het
Farp1	C	T	14: 121,339,581 (GRCm39)	A53V	probably benign	Het
Gli3	T	A	13: 15,834,717 (GRCm39)	L400Q	probably damaging	Het
Gtf2i	T	A	5: 134,318,189 (GRCm39)	I109F	possibly damaging	Het
Lat2	A	T	5: 134,631,445 (GRCm39)	I191N	probably damaging	Het
Mtf1	G	A	4: 124,732,456 (GRCm39)	A505T	probably benign	Het
Naa30	G	T	14: 49,410,697 (GRCm39)	E208D	probably benign	Het
Nlrp5	T	C	7: 23,117,172 (GRCm39)	Y299H	probably benign	Het
Npc1	T	A	18: 12,347,436 (GRCm39)	N195Y	probably damaging	Het
Or2f1	A	G	6: 42,721,748 (GRCm39)	Y259C	probably damaging	Het
Or4p21	T	C	2: 88,277,163 (GRCm39)	N40D	probably damaging	Het
Or5t16	T	G	2: 86,819,349 (GRCm39)	Y57S	probably damaging	Het
Or7g18	T	C	9: 18,787,523 (GRCm39)	M300T	probably benign	Het
Or7g19	A	T	9: 18,856,177 (GRCm39)	I78F	probably damaging	Het
Pate12	A	G	9: 36,344,723 (GRCm39)	T84A	possibly damaging	Het
Pcdh9	G	A	14: 93,253,012 (GRCm39)	A1217V	probably null	Het
Pdhb	C	T	14: 8,171,537 (GRCm38)		probably benign	Het
Pknox2	A	G	9: 36,865,993 (GRCm39)	Y75H	probably damaging	Het
Ptprn2	T	C	12: 117,175,563 (GRCm39)	S748P	probably damaging	Het
Ranbp6	A	G	19: 29,788,789 (GRCm39)	V521A	probably damaging	Het
Selenom	A	G	11: 3,466,508 (GRCm39)	D63G	probably damaging	Het
Sema6d	T	C	2: 124,501,520 (GRCm39)	V487A	possibly damaging	Het
Tapt1	A	T	5: 44,361,666 (GRCm39)	M109K	probably damaging	Het
Trib1	T	C	15: 59,526,333 (GRCm39)	F301S	probably damaging	Het
Tspyl1	T	C	10: 34,159,112 (GRCm39)	V279A	probably damaging	Het
Ubr2	C	T	17: 47,264,972 (GRCm39)	V1184I	possibly damaging	Het
Urb1	T	C	16: 90,585,044 (GRCm39)	I526V	probably benign	Het
Vtcn1	A	G	3: 100,791,226 (GRCm39)	D88G	probably damaging	Het
Yod1	T	G	1: 130,646,695 (GRCm39)	L191V	probably benign	Het

Other mutations in Samd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01550:Samd7	APN	3	30,819,399 (GRCm39)	missense	probably damaging	1.00
IGL01813:Samd7	APN	3	30,808,435 (GRCm39)	missense	probably benign	0.00
IGL02884:Samd7	APN	3	30,810,322 (GRCm39)	missense	probably damaging	1.00
IGL03263:Samd7	APN	3	30,816,302 (GRCm39)	missense	probably damaging	1.00
R0244:Samd7	UTSW	3	30,805,222 (GRCm39)	missense	probably benign	0.41
R0638:Samd7	UTSW	3	30,810,670 (GRCm39)	missense	probably benign	0.01
R1490:Samd7	UTSW	3	30,812,502 (GRCm39)	missense	probably benign	0.01
R2099:Samd7	UTSW	3	30,810,709 (GRCm39)	missense	probably benign	0.00
R3725:Samd7	UTSW	3	30,805,283 (GRCm39)	missense	possibly damaging	0.46
R5557:Samd7	UTSW	3	30,810,769 (GRCm39)	missense	probably benign	0.21
R5899:Samd7	UTSW	3	30,810,883 (GRCm39)	missense	probably benign	0.00
R6088:Samd7	UTSW	3	30,810,632 (GRCm39)	missense	probably benign	0.00
R6985:Samd7	UTSW	3	30,805,272 (GRCm39)	missense	probably benign	0.02
R7066:Samd7	UTSW	3	30,805,272 (GRCm39)	missense	probably benign	0.02
R7067:Samd7	UTSW	3	30,805,272 (GRCm39)	missense	probably benign	0.02
R7073:Samd7	UTSW	3	30,810,631 (GRCm39)	missense	probably benign	0.21
R8007:Samd7	UTSW	3	30,812,531 (GRCm39)	missense	probably damaging	1.00
R8368:Samd7	UTSW	3	30,819,574 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02