Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01895:Samd4b'

179382

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Samd4b

Ensembl Gene

ENSMUSG00000109336

Gene Name

sterile alpha motif domain containing 4B

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.756) question?

Stock #

IGL01895

Quality Score

Status

Chromosome

Chromosomal Location

28399522-28598144 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 28401909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003529] [ENSMUST00000040531] [ENSMUST00000040531] [ENSMUST00000207766] [ENSMUST00000208126] [ENSMUST00000208199]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000003529

SMART Domains

Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437

Domain	Start	End	E-Value	Type
Pfam:Paf1	28	441	2.3e-154	PFAM
low complexity region	456	470	N/A	INTRINSIC
low complexity region	476	511	N/A	INTRINSIC
low complexity region	514	535	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000040531

SMART Domains

Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336

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 null
Transcript: ENSMUST00000040531

SMART Domains

Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336

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

noncoding transcript
Transcript: ENSMUST00000122857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146913

Predicted Effect

probably benign
Transcript: ENSMUST00000207766

Predicted Effect

probably null
Transcript: ENSMUST00000208126

Predicted Effect

probably null
Transcript: ENSMUST00000208199

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,229,107	V2279E	possibly damaging	Het
Abcc6	A	T	7: 46,029,058	I56N	possibly damaging	Het
Akr1c13	A	T	13: 4,205,373	E321V	possibly damaging	Het
Atp8b3	A	T	10: 80,521,828	V1119D	possibly damaging	Het
Cacna1e	G	T	1: 154,443,900	F1351L	probably damaging	Het
Cadps2	A	G	6: 23,427,275	W585R	probably damaging	Het
Ccdc113	C	T	8: 95,536,458		probably benign	Het
Ccer1	A	T	10: 97,694,050	I192F	unknown	Het
Chd8	T	C	14: 52,199,094	N90S	probably benign	Het
Clca3a1	A	T	3: 144,747,572	C463*	probably null	Het
Cyp2c65	T	A	19: 39,072,232	C179S	possibly damaging	Het
Dennd4b	A	G	3: 90,275,567	Q35R	probably benign	Het
Enpep	T	C	3: 129,270,334	E928G	possibly damaging	Het
Fem1c	T	C	18: 46,505,562	T458A	probably benign	Het
Fezf2	A	T	14: 12,342,498	*456R	probably null	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14085	A	C	2: 122,525,091	Y588S	possibly damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Iqcm	T	G	8: 75,888,560	L423R	probably damaging	Het
Kcnc4	C	A	3: 107,448,218	V305L	probably benign	Het
Kif1a	G	A	1: 93,025,733	T1337I	possibly damaging	Het
Lpxn	A	G	19: 12,833,086	D298G	probably damaging	Het
Lypd8	A	G	11: 58,390,220	T203A	possibly damaging	Het
Mrps28	C	T	3: 8,900,059	V107M	probably damaging	Het
Myo15b	A	G	11: 115,883,498	E586G	possibly damaging	Het
Pdzk1	C	T	3: 96,869,101	A459V	possibly damaging	Het
Rbpj	A	G	5: 53,651,386	D285G	probably damaging	Het
Rimbp3	T	C	16: 17,211,436	L908P	probably damaging	Het
Stau2	C	T	1: 16,345,937	G401S	probably damaging	Het
Trpa1	A	T	1: 14,887,643	I697K	possibly damaging	Het
Ttc17	A	C	2: 94,375,146	V285G	possibly damaging	Het
Unc5b	A	G	10: 60,767,085	F845S	probably damaging	Het
Vmn1r19	A	T	6: 57,405,260	Q266L	probably benign	Het
Vmn2r106	T	C	17: 20,278,965	N228S	probably benign	Het
Vps13d	A	G	4: 145,156,266	F919S	possibly damaging	Het
Zbtb38	C	T	9: 96,688,408	V208I	probably benign	Het
Zfp990	A	T	4: 145,536,857	T142S	probably damaging	Het
Zfp990	C	A	4: 145,536,858	T142N	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
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
R1675:Samd4b	UTSW	7	28414010	missense	probably damaging	0.98
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

Posted On

2014-05-07