Mutagenetix > Incidental Mutation

Incidental Mutation 'R9453:Samd13'

714381

Institutional Source

Beutler Lab

Gene Symbol

Samd13

Ensembl Gene

ENSMUSG00000048652

Gene Name

sterile alpha motif domain containing 13

Synonyms

LOC381481

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9453 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146350950-146391347 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146368510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 27 (D27E)

Ref Sequence

ENSEMBL: ENSMUSP00000118464 (fasta)

Gene Model

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

AlphaFold

D3YUG0

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118464
Gene: ENSMUSG00000048652
AA Change: D27E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125965
AA Change: D27E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119608
Gene: ENSMUSG00000048652
AA Change: D27E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000147113
AA Change: D27E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118934
Gene: ENSMUSG00000048652
AA Change: D27E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197989
AA Change: D8E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143496
Gene: ENSMUSG00000048652
AA Change: D8E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,771,054 (GRCm39)	A179T	probably benign	Het
Abca6	A	G	11: 110,138,090 (GRCm39)		probably null	Het
Agps	A	C	2: 75,662,585 (GRCm39)	D10A	probably damaging	Het
Atad2b	T	A	12: 5,081,578 (GRCm39)	D1162E	probably benign	Het
Atp13a4	T	C	16: 29,239,659 (GRCm39)	K851R	unknown	Het
Cdh15	A	G	8: 123,586,029 (GRCm39)	D136G	probably damaging	Het
Cdk5rap1	A	T	2: 154,190,585 (GRCm39)	Y459N	probably damaging	Het
Cep192	A	T	18: 67,989,354 (GRCm39)	K1834*	probably null	Het
Cfap221	C	T	1: 119,853,361 (GRCm39)	V778I	probably benign	Het
Chpf	G	A	1: 75,452,854 (GRCm39)	T362I	probably benign	Het
Cyp4x1	T	C	4: 114,991,069 (GRCm39)	R36G	probably damaging	Het
D16Ertd472e	T	A	16: 78,342,052 (GRCm39)	Q276L	probably damaging	Het
Dapk3	T	C	10: 81,025,825 (GRCm39)	Y39H	probably damaging	Het
Eefsec	T	C	6: 88,353,337 (GRCm39)	T111A	probably damaging	Het
Ehbp1l1	G	A	19: 5,758,371 (GRCm39)	R1714C	unknown	Het
Flcn	A	G	11: 59,694,609 (GRCm39)	V121A	probably damaging	Het
Gaa	G	T	11: 119,165,958 (GRCm39)	D423Y	probably damaging	Het
Gaa	A	C	11: 119,165,959 (GRCm39)	D423A	probably benign	Het
Garnl3	A	G	2: 32,893,881 (GRCm39)	I694T	probably damaging	Het
Gm5114	T	A	7: 39,058,242 (GRCm39)	Q459L	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hmmr	A	G	11: 40,612,655 (GRCm39)		probably null	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lmnb1	G	A	18: 56,873,114 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,288,832 (GRCm39)	Y3678C	probably damaging	Het
Map7	T	C	10: 20,153,981 (GRCm39)	V699A	unknown	Het
Mme	G	T	3: 63,272,306 (GRCm39)	G635V	possibly damaging	Het
Mroh8	A	T	2: 157,071,948 (GRCm39)	I519N	possibly damaging	Het
Mrps11	T	C	7: 78,442,390 (GRCm39)	S157P	probably damaging	Het
Muc16	T	C	9: 18,572,061 (GRCm39)	T153A	unknown	Het
Nlrp1b	A	G	11: 71,072,913 (GRCm39)	V310A	probably damaging	Het
Oas1f	T	C	5: 120,993,592 (GRCm39)	V268A	probably damaging	Het
Or56a3b	T	A	7: 104,770,817 (GRCm39)	I51N		Het
Or6y1	A	T	1: 174,276,233 (GRCm39)	T15S	probably benign	Het
Padi4	A	G	4: 140,479,950 (GRCm39)	L401P	probably benign	Het
Pdzd7	A	G	19: 45,016,056 (GRCm39)	*1022Q	probably null	Het
Plcl2	C	A	17: 50,915,391 (GRCm39)	T800K	probably damaging	Het
Polr1has	TCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCAC	17: 37,275,939 (GRCm39)		probably benign	Het
Ppp1r37	A	T	7: 19,295,796 (GRCm39)	F54I	probably damaging	Het
Prl7c1	T	A	13: 27,957,870 (GRCm39)	Y190F	probably benign	Het
Prpf8	A	G	11: 75,397,212 (GRCm39)	E2015G	possibly damaging	Het
Rpap3	A	G	15: 97,579,641 (GRCm39)	V457A		Het
Sephs1	A	T	2: 4,889,174 (GRCm39)		probably benign	Het
Slc22a20	T	G	19: 6,023,024 (GRCm39)	Q373P	probably damaging	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
Src	A	T	2: 157,307,852 (GRCm39)	T254S	probably damaging	Het
St6galnac2	A	T	11: 116,569,344 (GRCm39)	M301K	possibly damaging	Het
Tnfsf13	A	T	11: 69,576,010 (GRCm39)	W26R	probably damaging	Het
Trbv28	T	A	6: 41,248,687 (GRCm39)	D72E	probably benign	Het
Trim75	T	A	8: 65,436,561 (GRCm39)		probably benign	Het
Ttc39d	T	C	17: 80,524,754 (GRCm39)	F471S	probably damaging	Het
Vav1	C	T	17: 57,613,191 (GRCm39)	P621L	probably benign	Het
Vezt	A	T	10: 93,832,856 (GRCm39)	L185*	probably null	Het
Vmn2r42	T	C	7: 8,187,295 (GRCm39)	I826V	probably benign	Het
Vmn2r67	G	A	7: 84,800,697 (GRCm39)	T413M	probably benign	Het
Vnn1	G	A	10: 23,776,723 (GRCm39)	C358Y	probably damaging	Het
Wdr83os	G	C	8: 85,808,638 (GRCm39)	W106C	probably damaging	Het
Wdr95	T	C	5: 149,475,917 (GRCm39)	S72P	probably damaging	Het
Zfp423	T	A	8: 88,508,251 (GRCm39)	T698S	probably damaging	Het
Zfp521	G	A	18: 13,977,293 (GRCm39)	T1040I	probably damaging	Het
Zfp563	T	A	17: 33,308,565 (GRCm39)	V9E		Het
Zmym2	T	A	14: 57,180,770 (GRCm39)	V894E	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
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

Predicted Primers

PCR Primer
(F):5'- AGGGAACTGTGTCTCTTCAGTC -3'
(R):5'- TCATGAGTCCTTCCGTGGGTAG -3'

Sequencing Primer
(F):5'- TACTCTATAGACCCGGGCTG -3'
(R):5'- TAGACCTGGATGGACTCTGAG -3'

Posted On

2022-06-15