Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Samd4b'

188000

Institutional Source

Beutler Lab

Gene Symbol

Samd4b

Ensembl Gene

ENSMUSG00000109336

Gene Name

sterile alpha motif domain containing 4B

Synonyms

MMRRC Submission

039711-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.611) question?

Stock #

R1675 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28399522-28598144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28414010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 177 (G177R)

Ref Sequence

ENSEMBL: ENSMUSP00000146984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040531] [ENSMUST00000207766] [ENSMUST00000208199]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040531
AA Change: G177R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
AA Change: G177R

Domain	Start	End	E-Value	Type
low complexity region	81	90	N/A	INTRINSIC
low complexity region	174	190	N/A	INTRINSIC
low complexity region	200	211	N/A	INTRINSIC
low complexity region	278	290	N/A	INTRINSIC
SAM	296	359	1.02e-9	SMART
low complexity region	406	420	N/A	INTRINSIC
low complexity region	433	461	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000207766
AA Change: G177R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208199
AA Change: G177R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208676

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,263,411		probably null	Het
Adam6b	T	C	12: 113,491,044	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 27,082,485		probably null	Het
Anapc2	G	A	2: 25,272,639	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,894,899	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,731,211	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,730,157	S279P	probably benign	Het
Atp10b	A	G	11: 43,225,648	T941A	probably damaging	Het
Barhl1	C	T	2: 28,915,411	R90Q	possibly damaging	Het
Calr3	T	C	8: 72,431,458	D91G	probably damaging	Het
Ccdc148	T	C	2: 58,980,554	D317G	probably damaging	Het
Cnn3	C	T	3: 121,457,169	Q19*	probably null	Het
Cul5	T	C	9: 53,646,683	D207G	probably benign	Het
Cyp4x1	T	C	4: 115,127,560	E41G	possibly damaging	Het
Dagla	T	A	19: 10,269,323	M138L	probably benign	Het
Dnah6	A	T	6: 73,129,540	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,215,686	S88T	probably benign	Het
Eno3	T	C	11: 70,658,666		probably null	Het
Erbb3	C	A	10: 128,571,204	S1029I	probably damaging	Het
Erbin	C	A	13: 103,841,178	V624L	probably damaging	Het
Fam170b	C	T	14: 32,835,402	Q65*	probably null	Het
Fam208b	T	C	13: 3,569,507	I2241M	possibly damaging	Het
Gin1	T	A	1: 97,786,055	L360*	probably null	Het
Gldc	A	T	19: 30,143,453	D359E	probably damaging	Het
Gpr107	A	T	2: 31,167,051	T52S	possibly damaging	Het
Hip1r	A	G	5: 123,994,820	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,135,559	L1004P	probably damaging	Het
Hspa1l	A	G	17: 34,977,443	N153D	probably damaging	Het
Itga8	C	A	2: 12,200,163	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,496,288	A134V	probably benign	Het
Kif18a	T	A	2: 109,298,403	C406S	probably benign	Het
Klhl28	A	T	12: 64,951,819	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,482,453	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,496,185	T222A	probably benign	Het
Lipn	G	A	19: 34,080,710	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,568,774	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,741,026	E144K	probably damaging	Het
Mal	T	C	2: 127,635,044	Y77C	probably benign	Het
Map1a	T	A	2: 121,302,655	C1079*	probably null	Het
Mbd5	T	A	2: 49,256,218	S147T	possibly damaging	Het
Nsd2	T	A	5: 33,861,149	M509K	probably benign	Het
Olfr1342	C	T	4: 118,689,948	R168H	probably benign	Het
Olfr262	C	T	19: 12,240,831	V277I	probably benign	Het
Olfr414	T	C	1: 174,431,097	V223A	probably benign	Het
Olfr51	T	C	11: 51,007,637	F222L	probably benign	Het
Rcor2	C	T	19: 7,270,181	L45F	probably damaging	Het
Rpl12	T	A	2: 32,963,525	D107E	probably benign	Het
Rpl7l1	A	T	17: 46,778,191	F205I	probably damaging	Het
Sema4a	A	T	3: 88,454,766	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,338,074	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Syt14	T	C	1: 192,897,482	D781G	probably damaging	Het
Tprn	T	G	2: 25,264,409	D574E	probably benign	Het
Trim75	T	A	8: 64,982,511	E429V	probably damaging	Het
Trit1	C	T	4: 123,054,236	R450C	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,639,050		probably null	Het
Usp49	C	A	17: 47,673,410	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,431,952	C88R	probably benign	Het
Zfp94	T	A	7: 24,302,834	K394N	probably damaging	Het

Other mutations in Samd4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Samd4b	APN	7	28401877	missense	probably damaging	1.00
IGL00979:Samd4b	APN	7	28414213	missense	probably damaging	1.00
IGL01336:Samd4b	APN	7	28413963	missense	probably benign	0.00
IGL01432:Samd4b	APN	7	28414066	missense	possibly damaging	0.60
IGL01895:Samd4b	APN	7	28401909	critical splice acceptor site	probably null
IGL02827:Samd4b	APN	7	28414121	missense	probably damaging	1.00
IGL03077:Samd4b	APN	7	28406443	missense	probably damaging	0.99
IGL03055:Samd4b	UTSW	7	28405546	missense	possibly damaging	0.89
R0367:Samd4b	UTSW	7	28423448	missense	probably damaging	1.00
R0390:Samd4b	UTSW	7	28403977	missense	probably benign	0.13
R0440:Samd4b	UTSW	7	28408160	missense	probably benign	0.45
R0488:Samd4b	UTSW	7	28414237	missense	probably damaging	1.00
R0798:Samd4b	UTSW	7	28401623	splice site	probably benign
R1233:Samd4b	UTSW	7	28414010	missense	probably damaging	0.98
R1234:Samd4b	UTSW	7	28414010	missense	probably damaging	0.98
R1481:Samd4b	UTSW	7	28414010	missense	probably damaging	0.98
R1643:Samd4b	UTSW	7	28423616	missense	probably damaging	1.00
R1768:Samd4b	UTSW	7	28413892	missense	probably benign	0.36
R1801:Samd4b	UTSW	7	28407331	splice site	probably null
R2831:Samd4b	UTSW	7	28403913	missense	probably damaging	0.99
R4505:Samd4b	UTSW	7	28407500	missense	probably benign	0.15
R4507:Samd4b	UTSW	7	28407500	missense	probably benign	0.15
R4731:Samd4b	UTSW	7	28406663	missense	probably benign	0.00
R5811:Samd4b	UTSW	7	28408020	missense	probably damaging	1.00
R6063:Samd4b	UTSW	7	28423631	start codon destroyed	possibly damaging	0.71
R6114:Samd4b	UTSW	7	28522792	splice site	probably null
R6356:Samd4b	UTSW	7	28401593	missense	probably damaging	1.00
R6467:Samd4b	UTSW	7	28401860	missense	probably damaging	1.00
R7055:Samd4b	UTSW	7	28404033	missense	probably benign	0.01
R7191:Samd4b	UTSW	7	28414261	missense	probably benign	0.18
R7371:Samd4b	UTSW	7	28423501	missense	probably benign	0.33
R7445:Samd4b	UTSW	7	28406456	missense	probably benign	0.00
R7543:Samd4b	UTSW	7	28414286	missense	probably benign	0.02
R7663:Samd4b	UTSW	7	28423500	nonsense	probably null
R7746:Samd4b	UTSW	7	28403903	missense	probably damaging	1.00
R7991:Samd4b	UTSW	7	28404033	missense	probably benign	0.01
R8235:Samd4b	UTSW	7	28406606	missense	probably benign
R9423:Samd4b	UTSW	7	28414208	missense	probably benign	0.00
R9615:Samd4b	UTSW	7	28407289	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGGGACTTGCCAAGCACAG -3'
(R):5'- TTCATTGAGGAGAGCCGCCAAC -3'

Sequencing Primer
(F):5'- TTGCCAAGCACAGAGCAAG -3'
(R):5'- GAGAGCCGCCAACTCCTC -3'

Posted On

2014-05-09