Mutagenetix > Incidental Mutation

Incidental Mutation 'R7437:Samd3'

576680

Institutional Source

Beutler Lab

Gene Symbol

Samd3

Ensembl Gene

ENSMUSG00000051354

Gene Name

sterile alpha motif domain containing 3

Synonyms

LOC268288

MMRRC Submission

045513-MU

Accession Numbers

Essential gene?

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

Stock #

R7437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26105605-26148070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26146004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 343 (Q343L)

Ref Sequence

ENSEMBL: ENSMUSP00000057805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040219] [ENSMUST00000060716] [ENSMUST00000105519] [ENSMUST00000220219]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040219

SMART Domains

Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089

Domain	Start	End	E-Value	Type
low complexity region	154	166	N/A	INTRINSIC
low complexity region	204	214	N/A	INTRINSIC
MBT	232	332	3.75e-48	SMART
MBT	340	439	3.67e-42	SMART
MBT	448	543	7.5e-48	SMART
low complexity region	604	615	N/A	INTRINSIC
low complexity region	662	770	N/A	INTRINSIC
SAM	808	875	2.49e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060716
AA Change: Q343L

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354
AA Change: Q343L

Domain	Start	End	E-Value	Type
SAM	1	66	3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105519

SMART Domains

Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089

Domain	Start	End	E-Value	Type
low complexity region	129	141	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC
MBT	207	307	3.75e-48	SMART
MBT	315	414	3.67e-42	SMART
MBT	423	518	7.5e-48	SMART
low complexity region	579	590	N/A	INTRINSIC
low complexity region	637	745	N/A	INTRINSIC
SAM	783	850	2.49e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220219
AA Change: Q343L

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,619,472 (GRCm39)	I1192F	probably damaging	Het
Abca8a	A	G	11: 109,941,790 (GRCm39)	S1160P	probably benign	Het
Adamtsl2	A	G	2: 26,979,721 (GRCm39)	I297V	probably damaging	Het
Aebp1	T	A	11: 5,819,757 (GRCm39)	F687L	possibly damaging	Het
Ahsa1	A	G	12: 87,314,930 (GRCm39)	T28A	probably damaging	Het
Akap3	A	T	6: 126,842,618 (GRCm39)	K412N	probably damaging	Het
Atl1	A	G	12: 69,978,396 (GRCm39)	I123V	probably benign	Het
Atp10a	G	A	7: 58,308,288 (GRCm39)	R29H	unknown	Het
C4b	T	C	17: 34,953,707 (GRCm39)	D967G	probably benign	Het
Ccdc186	T	C	19: 56,795,429 (GRCm39)	N416S	probably damaging	Het
Ccna2	T	C	3: 36,625,239 (GRCm39)		probably benign	Het
Cep70	T	C	9: 99,173,582 (GRCm39)	L371P	probably damaging	Het
Cfap46	A	T	7: 139,230,753 (GRCm39)	C958*	probably null	Het
Crlf2	T	C	5: 109,702,839 (GRCm39)	D318G	probably benign	Het
Csf1	T	C	3: 107,658,072 (GRCm39)	N14D	probably benign	Het
Dars1	A	G	1: 128,299,941 (GRCm39)	Y348H	possibly damaging	Het
Dnah2	T	C	11: 69,389,453 (GRCm39)	E813G	probably damaging	Het
Ebi3	T	A	17: 56,261,410 (GRCm39)	M102K	probably benign	Het
Epg5	A	G	18: 78,066,493 (GRCm39)	D2131G	probably benign	Het
Fam186a	A	T	15: 99,840,775 (GRCm39)	L1823H	probably damaging	Het
H2-M3	T	C	17: 37,583,569 (GRCm39)	M309T	probably benign	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ino80	A	G	2: 119,273,067 (GRCm39)	S470P	possibly damaging	Het
Kcnh5	C	T	12: 75,184,417 (GRCm39)		probably null	Het
Kif24	T	C	4: 41,404,687 (GRCm39)	T438A	possibly damaging	Het
Kndc1	G	A	7: 139,488,959 (GRCm39)	G205R	probably damaging	Het
Lrp1b	G	T	2: 40,712,658 (GRCm39)	D3225E		Het
Lrp1b	A	T	2: 40,712,657 (GRCm39)	Y3226N		Het
Megf10	G	C	18: 57,395,203 (GRCm39)	G522R	probably damaging	Het
Nectin2	A	T	7: 19,483,193 (GRCm39)	L12*	probably null	Het
Ngef	A	T	1: 87,408,327 (GRCm39)	M580K	probably damaging	Het
Oga	A	T	19: 45,767,046 (GRCm39)	M110K	possibly damaging	Het
Or10ag56	A	G	2: 87,139,687 (GRCm39)	M205V	probably benign	Het
Or1e1c	A	G	11: 73,265,844 (GRCm39)	S93G	probably benign	Het
Or5an1b	T	C	19: 12,299,472 (GRCm39)	N240D	probably damaging	Het
Pcdhb13	T	C	18: 37,577,728 (GRCm39)	L702P	probably damaging	Het
Pcdhb17	A	G	18: 37,619,145 (GRCm39)	I312V	probably benign	Het
Pglyrp3	A	G	3: 91,937,985 (GRCm39)	N265D	probably benign	Het
Pkd1l2	A	G	8: 117,757,421 (GRCm39)	V1539A	probably damaging	Het
Prxl2b	C	A	4: 154,981,053 (GRCm39)	C194F	possibly damaging	Het
Rcn2	T	C	9: 55,965,353 (GRCm39)	L274P	probably damaging	Het
Rpp30	A	G	19: 36,081,838 (GRCm39)	E267G	possibly damaging	Het
Rundc3a	A	G	11: 102,289,230 (GRCm39)	M134V	probably damaging	Het
Serpinb3c	A	T	1: 107,199,444 (GRCm39)	F359Y	probably damaging	Het
Slc9a9	T	C	9: 95,110,994 (GRCm39)	L604P	probably benign	Het
Strn3	A	T	12: 51,656,946 (GRCm39)	H777Q	probably damaging	Het
Tap1	G	A	17: 34,409,616 (GRCm39)	W284*	probably null	Het
Tlcd5	C	T	9: 43,023,080 (GRCm39)	W91*	probably null	Het
Tmem181a	A	G	17: 6,353,540 (GRCm39)	D384G	possibly damaging	Het
Txndc12	T	C	4: 108,713,368 (GRCm39)	S77P	probably damaging	Het
Wnt16	G	A	6: 22,288,560 (GRCm39)	V19M	probably benign	Het
Zfp932	T	A	5: 110,157,880 (GRCm39)	M526K	probably benign	Het
Zfp959	G	T	17: 56,205,334 (GRCm39)	C457F	probably damaging	Het
Zscan4-ps3	T	C	7: 11,346,863 (GRCm39)	S300P	probably benign	Het

Other mutations in Samd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00532:Samd3	APN	10	26,127,744 (GRCm39)	missense	probably damaging	1.00
IGL00754:Samd3	APN	10	26,120,425 (GRCm39)	missense	probably benign	0.19
IGL01672:Samd3	APN	10	26,146,067 (GRCm39)	missense	possibly damaging	0.94
IGL02211:Samd3	APN	10	26,109,455 (GRCm39)	missense	probably damaging	1.00
IGL02397:Samd3	APN	10	26,109,474 (GRCm39)	missense	possibly damaging	0.85
IGL02755:Samd3	APN	10	26,120,475 (GRCm39)	missense	probably damaging	1.00
IGL02885:Samd3	APN	10	26,147,762 (GRCm39)	missense	probably benign	0.43
IGL03115:Samd3	APN	10	26,147,606 (GRCm39)	missense	probably damaging	1.00
IGL03157:Samd3	APN	10	26,139,740 (GRCm39)	missense	probably benign	0.05
IGL03172:Samd3	APN	10	26,106,064 (GRCm39)	missense	probably damaging	1.00
BB006:Samd3	UTSW	10	26,127,813 (GRCm39)	missense	probably damaging	1.00
BB016:Samd3	UTSW	10	26,127,813 (GRCm39)	missense	probably damaging	1.00
R0034:Samd3	UTSW	10	26,147,398 (GRCm39)	splice site	probably benign
R0081:Samd3	UTSW	10	26,147,399 (GRCm39)	splice site	probably benign
R0197:Samd3	UTSW	10	26,147,752 (GRCm39)	missense	possibly damaging	0.77
R0566:Samd3	UTSW	10	26,120,396 (GRCm39)	missense	possibly damaging	0.83
R0632:Samd3	UTSW	10	26,120,393 (GRCm39)	missense	possibly damaging	0.86
R0782:Samd3	UTSW	10	26,146,138 (GRCm39)	missense	probably damaging	0.97
R0834:Samd3	UTSW	10	26,147,725 (GRCm39)	missense	probably benign	0.01
R1106:Samd3	UTSW	10	26,147,689 (GRCm39)	missense	possibly damaging	0.57
R1844:Samd3	UTSW	10	26,127,672 (GRCm39)	missense	probably damaging	1.00
R1907:Samd3	UTSW	10	26,147,754 (GRCm39)	nonsense	probably null
R1929:Samd3	UTSW	10	26,139,884 (GRCm39)	splice site	probably benign
R2925:Samd3	UTSW	10	26,127,785 (GRCm39)	missense	probably benign	0.37
R5104:Samd3	UTSW	10	26,139,686 (GRCm39)	missense	possibly damaging	0.61
R5736:Samd3	UTSW	10	26,146,070 (GRCm39)	missense	probably damaging	1.00
R7120:Samd3	UTSW	10	26,106,864 (GRCm39)	missense	possibly damaging	0.77
R7510:Samd3	UTSW	10	26,106,006 (GRCm39)	missense	probably benign
R7599:Samd3	UTSW	10	26,139,711 (GRCm39)	missense	probably benign	0.00
R7801:Samd3	UTSW	10	26,139,770 (GRCm39)	missense	possibly damaging	0.57
R7806:Samd3	UTSW	10	26,120,425 (GRCm39)	missense	probably benign	0.19
R7820:Samd3	UTSW	10	26,109,416 (GRCm39)	splice site	probably null
R7929:Samd3	UTSW	10	26,127,813 (GRCm39)	missense	probably damaging	1.00
R8298:Samd3	UTSW	10	26,121,468 (GRCm39)	missense	probably damaging	1.00
R8979:Samd3	UTSW	10	26,120,428 (GRCm39)	missense	possibly damaging	0.93
R9381:Samd3	UTSW	10	26,147,643 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGGCTGTTACTTCAGACTCTGC -3'
(R):5'- AGAATCTGCTCCCAATCCCG -3'

Sequencing Primer
(F):5'- GTTACTTCAGACTCTGCTCTTTTC -3'
(R):5'- CTCCCAATCCCGGCCCC -3'

Posted On

2019-10-07