Mutagenetix > Incidental Mutation

Incidental Mutation 'R5617:Samd13'

439570

Institutional Source

Beutler Lab

Gene Symbol

Samd13

Ensembl Gene

ENSMUSG00000048652

Gene Name

sterile alpha motif domain containing 13

Synonyms

LOC381481

MMRRC Submission

043276-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R5617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146350950-146391347 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 146352065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 95 (K95N)

Ref Sequence

ENSEMBL: ENSMUSP00000118934 (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: K95N

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118464
Gene: ENSMUSG00000048652
AA Change: K95N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125965
AA Change: K95N

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000119608
Gene: ENSMUSG00000048652
AA Change: K95N

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: K95N

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118934
Gene: ENSMUSG00000048652
AA Change: K95N

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: K76N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000143496
Gene: ENSMUSG00000048652
AA Change: K76N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154128

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,227,891 (GRCm39)	L645F	probably benign	Het
Acss3	T	C	10: 106,787,851 (GRCm39)	Y522C	probably damaging	Het
Asb18	A	G	1: 89,882,184 (GRCm39)	V118A	possibly damaging	Het
Aste1	T	A	9: 105,275,034 (GRCm39)	C8S	probably benign	Het
Atp10a	A	G	7: 58,453,423 (GRCm39)	S834G	probably benign	Het
Cdh18	A	G	15: 23,226,854 (GRCm39)	D105G	probably damaging	Het
Cenpb	T	C	2: 131,020,934 (GRCm39)	E288G	probably damaging	Het
Clcnka	C	T	4: 141,116,628 (GRCm39)	G541D	probably null	Het
Dctn3	T	C	4: 41,716,407 (GRCm39)	I134V	possibly damaging	Het
Dennd4b	T	C	3: 90,182,933 (GRCm39)	S917P	probably benign	Het
Fam135b	A	T	15: 71,493,865 (GRCm39)	D21E	probably damaging	Het
Fam174a	T	C	1: 95,241,972 (GRCm39)	V144A	probably damaging	Het
Fbxo38	A	G	18: 62,639,042 (GRCm39)	Y1087H	probably damaging	Het
Gm7275	A	T	16: 47,894,527 (GRCm39)		noncoding transcript	Het
Gm9271	G	T	7: 39,013,076 (GRCm39)		noncoding transcript	Het
Grm2	T	C	9: 106,528,275 (GRCm39)		probably null	Het
Htt	T	A	5: 35,028,150 (GRCm39)	V1802D	possibly damaging	Het
Ighv1-75	C	A	12: 115,797,874 (GRCm39)	G16V	probably benign	Het
Krt78	G	A	15: 101,856,044 (GRCm39)	T589I	probably damaging	Het
Lama3	T	C	18: 12,631,993 (GRCm39)		probably benign	Het
Lbr	A	T	1: 181,656,467 (GRCm39)	V227D	probably benign	Het
Lsamp	T	C	16: 41,954,786 (GRCm39)	V211A	probably damaging	Het
Map3k19	G	A	1: 127,750,703 (GRCm39)	R883C	probably damaging	Het
Marchf8	A	C	6: 116,380,481 (GRCm39)	I111L	possibly damaging	Het
Mrps10	T	A	17: 47,689,167 (GRCm39)	M187K	probably benign	Het
Ncdn	G	A	4: 126,638,840 (GRCm39)	R660C	probably damaging	Het
Notum	A	T	11: 120,547,171 (GRCm39)	Y332*	probably null	Het
Nr1h5	A	T	3: 102,855,145 (GRCm39)	L319I	probably damaging	Het
Or51q1	A	T	7: 103,628,921 (GRCm39)	H180L	possibly damaging	Het
Or8k35	T	A	2: 86,424,345 (GRCm39)	I276L	probably benign	Het
Osbpl5	T	C	7: 143,246,684 (GRCm39)	D765G	possibly damaging	Het
Parp3	C	T	9: 106,351,704 (GRCm39)	V170M	possibly damaging	Het
Pcdh15	A	G	10: 74,471,504 (GRCm39)		probably benign	Het
Pcdha9	T	G	18: 37,131,869 (GRCm39)	S313A	probably benign	Het
Pfkm	A	G	15: 98,020,107 (GRCm39)	R201G	possibly damaging	Het
Pgm5	G	A	19: 24,727,765 (GRCm39)	R375*	probably null	Het
Phactr2	A	G	10: 13,349,809 (GRCm39)	S72P	possibly damaging	Het
Plaat1	A	T	16: 29,039,162 (GRCm39)	R81*	probably null	Het
Plec	A	G	15: 76,058,732 (GRCm39)	L3600P	probably damaging	Het
Pou6f1	G	A	15: 100,483,874 (GRCm39)	T208M	possibly damaging	Het
Rabep1	C	T	11: 70,808,355 (GRCm39)	S394L	probably damaging	Het
Ranbp2	T	G	10: 58,301,489 (GRCm39)	F687C	probably damaging	Het
Ranbp6	A	G	19: 29,789,863 (GRCm39)	F163S	probably damaging	Het
Rcor3	T	C	1: 191,804,430 (GRCm39)	N240D	probably benign	Het
Slc25a17	G	T	15: 81,244,975 (GRCm39)		probably benign	Het
Slfn8	G	T	11: 82,895,547 (GRCm39)	H420N	probably benign	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Stim2	G	A	5: 54,267,075 (GRCm39)	E21K	probably damaging	Het
Tmem163	A	G	1: 127,479,067 (GRCm39)	Y151H	possibly damaging	Het
Trio	A	G	15: 27,902,834 (GRCm39)	I209T	probably benign	Het
Tubal3	T	A	13: 3,983,432 (GRCm39)	L404H	probably damaging	Het
Ubqln3	A	G	7: 103,791,640 (GRCm39)	F150S	probably damaging	Het
Ubr5	T	C	15: 38,030,901 (GRCm39)	S425G	possibly damaging	Het
Vmn2r52	T	A	7: 9,904,861 (GRCm39)	H326L	probably damaging	Het

Other mutations in Samd13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03290:Samd13	APN	3	146,352,070 (GRCm39)	missense	probably benign	0.31
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
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

Predicted Primers

PCR Primer
(F):5'- TTTTGCTCCTCCAGGCTGAG -3'
(R):5'- TGGTGTGACTTCAGCCTTCC -3'

Sequencing Primer
(F):5'- TGAGTCAGGCCAGCTGATG -3'
(R):5'- CCATTCCCCCAGAGTGCCTG -3'

Posted On

2016-11-08