Mutagenetix > Incidental Mutations

Incidental Mutation 'R4249:Samd11'

320523

Institutional Source

Beutler Lab

Gene Symbol

Samd11

Ensembl Gene

ENSMUSG00000096351

Gene Name

sterile alpha motif domain containing 11

Synonyms

mr-s

MMRRC Submission

041065-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4249 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156246966-156255657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 156250486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 102 (R102C)

Ref Sequence

ENSEMBL: ENSMUSP00000151817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179543] [ENSMUST00000179886] [ENSMUST00000179919] [ENSMUST00000217934] [ENSMUST00000218788] [ENSMUST00000219393] [ENSMUST00000220228]

AlphaFold

Q1RNF8

Predicted Effect

probably benign
Transcript: ENSMUST00000179543

SMART Domains

Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567

Domain	Start	End	E-Value	Type
low complexity region	21	58	N/A	INTRINSIC
low complexity region	97	114	N/A	INTRINSIC
low complexity region	121	139	N/A	INTRINSIC
Pfam:Noc2	331	626	1.8e-128	PFAM
low complexity region	651	675	N/A	INTRINSIC
low complexity region	701	723	N/A	INTRINSIC
low complexity region	738	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179886

SMART Domains

Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567

Domain	Start	End	E-Value	Type
Pfam:Noc2	172	470	1.2e-117	PFAM
low complexity region	494	518	N/A	INTRINSIC
low complexity region	544	566	N/A	INTRINSIC
low complexity region	581	593	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179919
AA Change: R112C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136611
Gene: ENSMUSG00000096351
AA Change: R112C

Domain	Start	End	E-Value	Type
low complexity region	277	295	N/A	INTRINSIC
low complexity region	365	385	N/A	INTRINSIC
low complexity region	401	410	N/A	INTRINSIC
SAM	411	478	1.82e-6	SMART
low complexity region	486	503	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217800

Predicted Effect

probably damaging
Transcript: ENSMUST00000217934
AA Change: R102C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218230

Predicted Effect

probably damaging
Transcript: ENSMUST00000218788
AA Change: R102C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219310

Predicted Effect

probably damaging
Transcript: ENSMUST00000219393
AA Change: R102C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220030

Predicted Effect

probably benign
Transcript: ENSMUST00000220228

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,472,956	N36S	possibly damaging	Het
2810474O19Rik	T	A	6: 149,325,543	M29K	possibly damaging	Het
Ankrd39	A	G	1: 36,547,155	S11P	probably benign	Het
Aox2	A	G	1: 58,299,819	S324G	probably benign	Het
Atl3	T	C	19: 7,532,338	V477A	probably benign	Het
Bcar1	T	C	8: 111,720,893	T151A	probably benign	Het
Cdc42bpg	A	G	19: 6,315,266	T718A	possibly damaging	Het
Col9a1	C	T	1: 24,244,381	R843C	probably damaging	Het
Dnah12	T	A	14: 26,709,186	D316E	possibly damaging	Het
Fat2	A	G	11: 55,284,301	V1862A	probably damaging	Het
Fbxw5	C	A	2: 25,503,460	N233K	probably damaging	Het
Fcer2a	A	G	8: 3,688,831	F75L	probably benign	Het
Fhod3	A	G	18: 24,990,066	K271R	probably null	Het
Gimd1	T	C	3: 132,644,408	V144A	possibly damaging	Het
Glt1d1	T	C	5: 127,691,112		probably null	Het
Hecw2	C	T	1: 53,832,645	V1381M	probably damaging	Het
Kansl1l	C	T	1: 66,773,478	D459N	probably damaging	Het
Lmtk3	G	A	7: 45,794,062	C723Y	possibly damaging	Het
Muc4	T	C	16: 32,755,826		probably benign	Het
Myom1	T	A	17: 71,092,140	V999E	probably damaging	Het
Nckap5	A	G	1: 126,027,639	L460P	probably benign	Het
Olfr109	T	C	17: 37,466,824	M206T	probably damaging	Het
Phf13	A	T	4: 151,992,095	N213K	probably damaging	Het
Phldb3	T	C	7: 24,627,320	I591T	probably damaging	Het
Pik3cb	T	C	9: 99,101,176		probably null	Het
Pkd1l1	C	T	11: 8,865,543	R1456K	possibly damaging	Het
Plekhh2	A	G	17: 84,586,337	E860G	possibly damaging	Het
Rest	A	G	5: 77,282,112	T793A	probably benign	Het
Ropn1	C	T	16: 34,678,456	Q205*	probably null	Het
Sacs	A	C	14: 61,203,457	K984T	probably benign	Het
Satl1	A	G	X: 112,406,336	S141P	probably benign	Het
Shank1	C	A	7: 44,319,736	H352N	unknown	Het
Slc22a27	A	T	19: 7,925,879	I162K	possibly damaging	Het
Snx8	A	G	5: 140,356,045	L121P	probably damaging	Het
Sumf1	A	C	6: 108,155,013	V156G	probably damaging	Het
Tln1	A	T	4: 43,536,104	V2027E	probably damaging	Het
Trdn	A	G	10: 33,450,998	I594M	probably benign	Het
Trim5	C	G	7: 104,276,815	E180Q	possibly damaging	Het
Tsen2	A	G	6: 115,547,824		probably benign	Het
Tubb1	A	T	2: 174,455,733	E45V	probably null	Het
Vmn2r67	T	A	7: 85,150,514		probably null	Het
Zcchc14	CTGATGGTGGTGGTGATGGTGGTGG	CTGATGGTGGTGG	8: 121,604,292		probably benign	Het
Zfp160	T	A	17: 21,025,738	F183L	probably benign	Het

Other mutations in Samd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1921:Samd11	UTSW	4	156248709	missense	probably damaging	1.00
R3710:Samd11	UTSW	4	156250495	missense	probably damaging	1.00
R4169:Samd11	UTSW	4	156247746	missense	probably damaging	1.00
R4586:Samd11	UTSW	4	156249432	missense	probably damaging	1.00
R4735:Samd11	UTSW	4	156248773	missense	probably benign
R4794:Samd11	UTSW	4	156249465	missense	probably damaging	0.98
R6481:Samd11	UTSW	4	156249078	splice site	probably null
R6583:Samd11	UTSW	4	156248134	missense	possibly damaging	0.93
R7165:Samd11	UTSW	4	156252290	missense	probably benign
R7357:Samd11	UTSW	4	156255007	splice site	probably null
R7402:Samd11	UTSW	4	156248773	missense	probably benign
R7426:Samd11	UTSW	4	156249400	missense	probably benign
R7645:Samd11	UTSW	4	156255183	start gained	probably benign
R7761:Samd11	UTSW	4	156247825	missense	probably benign
R8413:Samd11	UTSW	4	156249273	missense	probably damaging	1.00
R8716:Samd11	UTSW	4	156249270	missense	probably benign	0.31
R8814:Samd11	UTSW	4	156247884	missense	probably benign	0.19
R8822:Samd11	UTSW	4	156252307	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCTTCTCAAGTAACAAGCATAGC -3'
(R):5'- AAGCAAAGTGCCTTCCCTGC -3'

Sequencing Primer
(F):5'- TCTCAAGTAACAAGCATAGCATGTGG -3'
(R):5'- GCTGATCCTCTAGCCTGTGACAC -3'

Posted On

2015-06-12