Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03290:Samd13'

415865

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Samd13

Ensembl Gene

ENSMUSG00000048652

Gene Name

sterile alpha motif domain containing 13

Synonyms

LOC381481

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

IGL03290

Quality Score

Status

Chromosome

Chromosomal Location

146350950-146391347 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146352070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 75 (T75A)

Ref Sequence

ENSEMBL: ENSMUSP00000143496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049703] [ENSMUST00000124931] [ENSMUST00000125965] [ENSMUST00000147113] [ENSMUST00000149825] [ENSMUST00000197989]

AlphaFold

D3YUG0

Predicted Effect

probably benign
Transcript: ENSMUST00000049703

SMART Domains

Protein: ENSMUSP00000051453
Gene: ENSMUSG00000090202

Domain	Start	End	E-Value	Type
DnaJ	2	61	1.21e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124931
AA Change: T94A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118464
Gene: ENSMUSG00000048652
AA Change: T94A

Domain	Start	End	E-Value	Type
SAM	28	94	3.66e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125965
AA Change: T94A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000119608
Gene: ENSMUSG00000048652
AA Change: T94A

Domain	Start	End	E-Value	Type
SAM	28	94	3.66e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141199

Predicted Effect

probably benign
Transcript: ENSMUST00000147113
AA Change: T94A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118934
Gene: ENSMUSG00000048652
AA Change: T94A

Domain	Start	End	E-Value	Type
SAM	28	94	3.66e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149825

SMART Domains

Protein: ENSMUSP00000114745
Gene: ENSMUSG00000090202

Domain	Start	End	E-Value	Type
DnaJ	2	61	1.21e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197989
AA Change: T75A

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143496
Gene: ENSMUSG00000048652
AA Change: T75A

Domain	Start	End	E-Value	Type
SAM	9	75	2.2e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154128

Meta Mutation Damage Score

0.0764

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,302,646 (GRCm39)		probably benign	Het
Asb18	A	G	1: 89,942,296 (GRCm39)	S2P	probably damaging	Het
Atp2b2	A	G	6: 113,770,715 (GRCm39)	F398S	probably damaging	Het
BC034090	T	G	1: 155,101,856 (GRCm39)	D136A	probably damaging	Het
Ces5a	A	C	8: 94,246,260 (GRCm39)	F310V	probably damaging	Het
Chsy1	T	C	7: 65,820,779 (GRCm39)	V338A	probably benign	Het
Dbh	A	G	2: 27,064,944 (GRCm39)	E385G	probably damaging	Het
Dnah14	T	A	1: 181,591,543 (GRCm39)		probably benign	Het
F2rl1	A	G	13: 95,650,097 (GRCm39)	S262P	possibly damaging	Het
Fat2	T	C	11: 55,147,045 (GRCm39)	N3984D	probably benign	Het
Fbxo38	A	T	18: 62,659,234 (GRCm39)	H354Q	probably benign	Het
Fgf6	T	A	6: 127,001,095 (GRCm39)	V201D	probably damaging	Het
Gm16181	A	T	17: 35,442,933 (GRCm39)		probably benign	Het
Gm6811	T	C	17: 21,314,311 (GRCm39)		noncoding transcript	Het
Gna11	A	G	10: 81,366,771 (GRCm39)	F313S	probably damaging	Het
Gprc6a	C	T	10: 51,491,968 (GRCm39)	A523T	probably damaging	Het
Il22	T	C	10: 118,041,785 (GRCm39)		probably null	Het
Insr	T	C	8: 3,308,574 (GRCm39)	Y154C	probably damaging	Het
Irak4	T	A	15: 94,449,780 (GRCm39)	D86E	probably benign	Het
Itk	C	A	11: 46,225,764 (GRCm39)	W529L	probably damaging	Het
Klhl6	C	A	16: 19,765,887 (GRCm39)	A572S	probably benign	Het
Ldhc	C	T	7: 46,519,112 (GRCm39)	R112C	probably damaging	Het
Lrrc56	T	C	7: 140,779,685 (GRCm39)		probably benign	Het
Mdh2	A	G	5: 135,818,567 (GRCm39)	E274G	probably damaging	Het
N4bp1	G	T	8: 87,575,161 (GRCm39)	D711E	probably benign	Het
Ngly1	T	A	14: 16,281,866 (GRCm38)	I248K	probably damaging	Het
Or2ab1	A	G	11: 58,489,149 (GRCm39)	N309S	probably damaging	Het
Or7e176	T	C	9: 20,171,556 (GRCm39)	I140T	probably damaging	Het
Pbrm1	A	G	14: 30,829,241 (GRCm39)	E1421G	probably damaging	Het
Pcca	G	A	14: 122,822,518 (GRCm39)	R112H	possibly damaging	Het
Pgrmc2	T	C	3: 41,023,061 (GRCm39)		probably benign	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Pogz	A	T	3: 94,782,402 (GRCm39)		probably benign	Het
Ppp1r3a	A	G	6: 14,754,771 (GRCm39)	Y159H	probably damaging	Het
Rax	T	C	18: 66,071,231 (GRCm39)	K135E	probably damaging	Het
Rbm7	T	A	9: 48,401,267 (GRCm39)	M154L	probably benign	Het
Rp1	A	G	1: 4,420,264 (GRCm39)	S283P	probably damaging	Het
Rpusd4	T	C	9: 35,179,273 (GRCm39)	S30P	probably benign	Het
Sfxn4	A	G	19: 60,848,508 (GRCm39)	W22R	probably damaging	Het
Sh3pxd2a	T	A	19: 47,412,955 (GRCm39)	R43W	probably damaging	Het
Smc5	A	G	19: 23,251,022 (GRCm39)	V54A	probably benign	Het
Snap47	A	G	11: 59,319,424 (GRCm39)	I238T	probably damaging	Het
Tecpr2	T	G	12: 110,934,267 (GRCm39)	I1309S	possibly damaging	Het
Trappc8	A	G	18: 20,953,992 (GRCm39)	L1310P	probably damaging	Het
Vmn2r61	T	A	7: 41,915,408 (GRCm39)	H118Q	probably benign	Het
Zbtb17	C	T	4: 141,194,244 (GRCm39)	T731I	probably damaging	Het
Zfp287	A	G	11: 62,606,062 (GRCm39)	F282L	probably damaging	Het

Other mutations in Samd13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1626:Samd13	UTSW	3	146,368,481 (GRCm39)	missense	probably benign	0.40
R1699:Samd13	UTSW	3	146,368,469 (GRCm39)	missense	probably benign	0.01
R1717:Samd13	UTSW	3	146,352,070 (GRCm39)	missense	probably benign	0.31
R1919:Samd13	UTSW	3	146,368,467 (GRCm39)	missense	probably benign
R2289:Samd13	UTSW	3	146,368,446 (GRCm39)	missense	probably damaging	0.99
R4923:Samd13	UTSW	3	146,368,502 (GRCm39)	missense	probably benign	0.06
R5617:Samd13	UTSW	3	146,352,065 (GRCm39)	missense	probably benign	0.05
R5964:Samd13	UTSW	3	146,386,451 (GRCm39)	intron	probably benign
R6957:Samd13	UTSW	3	146,368,424 (GRCm39)	critical splice donor site	probably null
R7250:Samd13	UTSW	3	146,352,079 (GRCm39)	missense	probably benign	0.28
R8354:Samd13	UTSW	3	146,352,157 (GRCm39)	missense	probably benign	0.37
R8454:Samd13	UTSW	3	146,352,157 (GRCm39)	missense	probably benign	0.37
R9453:Samd13	UTSW	3	146,368,510 (GRCm39)	missense

Posted On

2016-08-02