Mutagenetix > Incidental Mutation

Incidental Mutation 'R4169:Samd11'

320685

Institutional Source

Beutler Lab

Gene Symbol

Samd11

Ensembl Gene

ENSMUSG00000096351

Gene Name

sterile alpha motif domain containing 11

Synonyms

mr-s

MMRRC Submission

041010-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R4169 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156331423-156340717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 156332203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 536 (D536V)

Ref Sequence

ENSEMBL: ENSMUSP00000151442 (fasta)

Gene Model

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

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: D546V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136611
Gene: ENSMUSG00000096351
AA Change: D546V

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

probably damaging
Transcript: ENSMUST00000217934
AA Change: D536V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218230

Predicted Effect

probably damaging
Transcript: ENSMUST00000218788
AA Change: D536V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219866

Predicted Effect

probably benign
Transcript: ENSMUST00000220228

Predicted Effect

probably benign
Transcript: ENSMUST00000219393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220030

Meta Mutation Damage Score

0.1151

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	T	C	4: 152,302,250 (GRCm39)	C121R	probably damaging	Het
Ampd1	T	A	3: 103,002,157 (GRCm39)	M546K	probably damaging	Het
Birc2	T	A	9: 7,849,684 (GRCm39)	D535V	possibly damaging	Het
Btn1a1	A	G	13: 23,649,325 (GRCm39)	L9P	probably benign	Het
Cmip	A	T	8: 118,183,656 (GRCm39)	N743I	probably damaging	Het
Col4a2	C	T	8: 11,479,391 (GRCm39)	P758L	probably benign	Het
Ddx50	A	T	10: 62,476,549 (GRCm39)	Y241*	probably null	Het
Elk3	A	G	10: 93,101,197 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,205,872 (GRCm39)	T1042A	possibly damaging	Het
Gm5445	A	G	13: 12,393,527 (GRCm39)		noncoding transcript	Het
Gnat3	T	C	5: 18,208,862 (GRCm39)	F189L	probably damaging	Het
Hectd1	T	C	12: 51,837,008 (GRCm39)	T815A	probably damaging	Het
Hmcn1	A	C	1: 150,471,750 (GRCm39)		probably null	Het
Hrc	A	G	7: 44,986,181 (GRCm39)	D444G	probably benign	Het
Ighv1-53	T	A	12: 115,122,166 (GRCm39)	I70F	possibly damaging	Het
Kat7	A	G	11: 95,171,298 (GRCm39)	F469L	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Krt81	T	A	15: 101,359,193 (GRCm39)	M242L	probably benign	Het
Krtap6-1	A	G	16: 88,828,584 (GRCm39)		probably null	Het
Man2c1	A	G	9: 57,045,310 (GRCm39)	D473G	probably benign	Het
Mthfr-ps1	T	C	5: 78,622,436 (GRCm39)		noncoding transcript	Het
Nop53	A	T	7: 15,676,244 (GRCm39)	W152R	probably benign	Het
Or5p58	A	T	7: 107,694,591 (GRCm39)	M62K	probably damaging	Het
Or6y1	T	A	1: 174,277,162 (GRCm39)	S324R	unknown	Het
Or8s8	A	G	15: 98,354,878 (GRCm39)	E229G	probably benign	Het
Pcdh1	A	T	18: 38,331,358 (GRCm39)	N548K	probably damaging	Het
Pcdhga12	A	G	18: 37,899,467 (GRCm39)	I100V	probably benign	Het
Piezo2	T	C	18: 63,183,675 (GRCm39)	H1743R	probably benign	Het
Pkdrej	A	G	15: 85,700,515 (GRCm39)	V1807A	probably benign	Het
Rabl2	T	C	15: 89,474,582 (GRCm39)	M1V	probably null	Het
Rexo5	A	G	7: 119,426,621 (GRCm39)		probably benign	Het
Rfng	C	G	11: 120,674,772 (GRCm39)	G73R	probably benign	Het
Rps6ka4	A	G	19: 6,809,188 (GRCm39)	L459P	possibly damaging	Het
Slc9a5	A	G	8: 106,084,032 (GRCm39)	T451A	possibly damaging	Het
Snapc1	T	A	12: 74,029,265 (GRCm39)	N349K	probably benign	Het
Sox1ot	A	G	8: 12,480,544 (GRCm39)		noncoding transcript	Het
Tmem178	C	T	17: 81,252,232 (GRCm39)	H39Y	possibly damaging	Het
Trav8n-2	A	T	14: 53,583,875 (GRCm39)	T111S	possibly damaging	Het
Ttn	T	A	2: 76,703,103 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,762,909 (GRCm39)	D3250G	probably damaging	Het
Ube2nl	T	A	7: 61,199,380 (GRCm39)		noncoding transcript	Het
Vps25	T	C	11: 101,144,918 (GRCm39)	S39P	probably damaging	Het
Zkscan14	G	A	5: 145,132,985 (GRCm39)	T182I	possibly damaging	Het

Other mutations in Samd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1921:Samd11	UTSW	4	156,333,166 (GRCm39)	missense	probably damaging	1.00
R3710:Samd11	UTSW	4	156,334,952 (GRCm39)	missense	probably damaging	1.00
R4249:Samd11	UTSW	4	156,334,943 (GRCm39)	missense	probably damaging	1.00
R4586:Samd11	UTSW	4	156,333,889 (GRCm39)	missense	probably damaging	1.00
R4735:Samd11	UTSW	4	156,333,230 (GRCm39)	missense	probably benign
R4794:Samd11	UTSW	4	156,333,922 (GRCm39)	missense	probably damaging	0.98
R6481:Samd11	UTSW	4	156,333,535 (GRCm39)	splice site	probably null
R6583:Samd11	UTSW	4	156,332,591 (GRCm39)	missense	possibly damaging	0.93
R7165:Samd11	UTSW	4	156,336,747 (GRCm39)	missense	probably benign
R7357:Samd11	UTSW	4	156,340,067 (GRCm39)	splice site	probably null
R7402:Samd11	UTSW	4	156,333,230 (GRCm39)	missense	probably benign
R7426:Samd11	UTSW	4	156,333,857 (GRCm39)	missense	probably benign
R7645:Samd11	UTSW	4	156,340,243 (GRCm39)	start gained	probably benign
R7761:Samd11	UTSW	4	156,332,282 (GRCm39)	missense	probably benign
R8413:Samd11	UTSW	4	156,333,730 (GRCm39)	missense	probably damaging	1.00
R8716:Samd11	UTSW	4	156,333,727 (GRCm39)	missense	probably benign	0.31
R8814:Samd11	UTSW	4	156,332,341 (GRCm39)	missense	probably benign	0.19
R8822:Samd11	UTSW	4	156,336,764 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCACTGCAGTTACCTCTAGAAG -3'
(R):5'- GTGTCTTCTACATGGCCAGC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- ACATGGCCAGCTTCCCTGTG -3'

Posted On

2015-06-12