Mutagenetix > Incidental Mutation

Incidental Mutation 'R6081:Samd12'

482929

Institutional Source

Beutler Lab

Gene Symbol

Samd12

Ensembl Gene

ENSMUSG00000058656

Gene Name

sterile alpha motif domain containing 12

Synonyms

A830094I09Rik

MMRRC Submission

044240-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6081 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53317206-53765933 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53583074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 87 (K87E)

Ref Sequence

ENSEMBL: ENSMUSP00000077741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078673] [ENSMUST00000132059]

AlphaFold

Q0VE29

Predicted Effect

probably benign
Transcript: ENSMUST00000078673
AA Change: K87E

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077741
Gene: ENSMUSG00000058656
AA Change: K87E

Domain	Start	End	E-Value	Type
SAM	74	143	1e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154119

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,887,097 (GRCm39)	M33K	probably damaging	Het
4930556J24Rik	T	C	11: 3,888,140 (GRCm39)	Q82R	unknown	Het
Adcy9	T	C	16: 4,112,545 (GRCm39)	D714G	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ahctf1	G	T	1: 179,609,237 (GRCm39)	A639E	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Anxa5	C	T	3: 36,519,436 (GRCm39)	D18N	probably damaging	Het
Apc	C	T	18: 34,423,164 (GRCm39)	P299L	possibly damaging	Het
Btnl4	C	A	17: 34,693,210 (GRCm39)	W68C	probably damaging	Het
Cmya5	T	A	13: 93,281,021 (GRCm39)		probably benign	Het
Cstf2t	G	T	19: 31,060,523 (GRCm39)	V20L	probably benign	Het
D630045J12Rik	A	T	6: 38,119,633 (GRCm39)	V1703E	probably damaging	Het
Dhx32	A	G	7: 133,323,941 (GRCm39)	F535S	probably damaging	Het
Diras2	T	C	13: 52,662,181 (GRCm39)	D42G	probably damaging	Het
Dppa3	T	A	6: 122,606,931 (GRCm39)	D140E	probably damaging	Het
Gpr180	C	T	14: 118,391,086 (GRCm39)	T205I	probably benign	Het
Gzme	T	G	14: 56,355,764 (GRCm39)	T183P	possibly damaging	Het
H2-T23	T	A	17: 36,342,707 (GRCm39)	I144F	possibly damaging	Het
Hlx	T	C	1: 184,459,894 (GRCm39)	S415G	probably benign	Het
Krtap5-3	G	A	7: 141,755,223 (GRCm39)	C20Y	unknown	Het
Mcm8	G	T	2: 132,670,003 (GRCm39)	R359L	probably benign	Het
Mroh2b	G	C	15: 4,973,859 (GRCm39)	E1126Q	probably damaging	Het
Nav1	C	T	1: 135,398,560 (GRCm39)	R674H	probably damaging	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Rnaset2b	T	A	17: 7,256,193 (GRCm39)		probably null	Het
Sec16b	T	C	1: 157,388,324 (GRCm39)	S564P	probably benign	Het
Speer4a1	A	T	5: 26,239,960 (GRCm39)	C263*	probably null	Het
Susd1	C	A	4: 59,411,359 (GRCm39)	C158F	possibly damaging	Het
Vmn2r6	C	T	3: 64,463,953 (GRCm39)	V294M	probably benign	Het

Other mutations in Samd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02024:Samd12	APN	15	53,521,862 (GRCm39)	missense	probably damaging	1.00
R0398:Samd12	UTSW	15	53,583,116 (GRCm39)	missense	possibly damaging	0.88
R0511:Samd12	UTSW	15	53,723,567 (GRCm39)	missense	probably benign	0.05
R2991:Samd12	UTSW	15	53,723,592 (GRCm39)	missense	probably damaging	0.98
R4420:Samd12	UTSW	15	53,723,655 (GRCm39)	missense	probably damaging	1.00
R4632:Samd12	UTSW	15	53,583,067 (GRCm39)	missense	possibly damaging	0.90
R5264:Samd12	UTSW	15	53,723,669 (GRCm39)	missense	probably damaging	1.00
R5990:Samd12	UTSW	15	53,583,019 (GRCm39)	missense	probably damaging	1.00
R6879:Samd12	UTSW	15	53,521,826 (GRCm39)	missense	probably benign	0.01
R7198:Samd12	UTSW	15	53,723,649 (GRCm39)	missense	probably damaging	1.00
R8282:Samd12	UTSW	15	53,723,645 (GRCm39)	missense	probably damaging	1.00
R8909:Samd12	UTSW	15	53,521,853 (GRCm39)	missense	probably damaging	1.00
R9343:Samd12	UTSW	15	53,583,088 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTGTCTGGAATTTATTGCC -3'
(R):5'- GGCCATAAGAGCCATGTATTTC -3'

Sequencing Primer
(F):5'- TTTCAAAGCAAAGTTACACCAGG -3'
(R):5'- CTCTTCAGAGAATTCAGACTATGGTC -3'

Posted On

2017-07-14