Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02479:Btf3l4'

295093

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btf3l4

Ensembl Gene

ENSMUSG00000028568

Gene Name

basic transcription factor 3-like 4

Synonyms

5730434I03Rik, 4632412E09Rik

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

108814295-108833614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108826176 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 31 (T31I)

Ref Sequence

ENSEMBL: ENSMUSP00000099803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102739] [ENSMUST00000102740] [ENSMUST00000102741] [ENSMUST00000102742]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102739
AA Change: T31I

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099800
Gene: ENSMUSG00000028568
AA Change: T31I

Domain	Start	End	E-Value	Type
Pfam:NAC	36	93	3.7e-25	PFAM
low complexity region	132	147	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102740
AA Change: T31I

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099801
Gene: ENSMUSG00000028568
AA Change: T31I

Domain	Start	End	E-Value	Type
Pfam:NAC	36	93	3.7e-25	PFAM
low complexity region	132	147	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102741
AA Change: T31I

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099802
Gene: ENSMUSG00000028568
AA Change: T31I

Domain	Start	End	E-Value	Type
Pfam:NAC	36	93	3.7e-25	PFAM
low complexity region	132	147	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102742
AA Change: T31I

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099803
Gene: ENSMUSG00000028568
AA Change: T31I

Domain	Start	End	E-Value	Type
Pfam:NAC	36	92	2.5e-28	PFAM
low complexity region	132	147	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139464

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,501,398	Y528C	probably damaging	Het
Adam24	T	A	8: 40,679,532	I13N	probably benign	Het
Arsj	T	C	3: 126,438,939	S445P	possibly damaging	Het
Cask	A	T	X: 13,557,058	D502E	probably damaging	Het
Cenpl	T	A	1: 161,083,067	S195T	probably benign	Het
Clhc1	T	A	11: 29,578,107	I545N	probably damaging	Het
Clrn2	T	C	5: 45,463,912	I216T	probably benign	Het
Csf2rb	C	T	15: 78,341,724	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,790,667	D284G	probably benign	Het
Dgka	T	C	10: 128,730,246	E345G	probably benign	Het
Dync1i2	G	A	2: 71,235,979	V128I	probably damaging	Het
Eno3	T	A	11: 70,660,888		probably benign	Het
Epc2	T	A	2: 49,532,135	I347K	probably benign	Het
F8	A	T	X: 75,288,240	N681K	probably damaging	Het
Fam207a	T	C	10: 77,514,327	S76G	probably damaging	Het
Fancm	T	A	12: 65,106,485	D1238E	probably damaging	Het
Fcna	T	A	2: 25,625,260	Q237L	probably benign	Het
Fpr2	A	T	17: 17,892,812	R23S	probably benign	Het
Frmd3	A	G	4: 74,187,515	D466G	probably benign	Het
Gen1	C	A	12: 11,241,935	V618L	probably benign	Het
Gja4	T	C	4: 127,312,424	E182G	probably benign	Het
Gsdmc	T	A	15: 63,777,975	I356F	possibly damaging	Het
Kctd19	T	C	8: 105,384,768	D102G	probably damaging	Het
Lrit2	T	C	14: 37,072,278	L433P	probably damaging	Het
Lrp2	G	A	2: 69,464,801		probably benign	Het
Luc7l3	G	A	11: 94,296,909		probably benign	Het
Map3k5	T	A	10: 20,056,484	L458Q	probably damaging	Het
Mast4	A	G	13: 102,742,037	S1038P	probably damaging	Het
Med12	A	T	X: 101,296,992		probably benign	Het
Mtor	T	A	4: 148,470,584	L888M	probably damaging	Het
Nova1	A	T	12: 46,816,918	I83N	unknown	Het
Obscn	A	G	11: 59,056,227		probably benign	Het
Olfr1309	A	C	2: 111,983,385	S230A	probably benign	Het
Olfr1320	T	C	X: 49,683,865	V121A	probably benign	Het
Olfr1426	T	A	19: 12,087,905	M296L	probably benign	Het
Olfr420	C	A	1: 174,158,954	Y60*	probably null	Het
Pde2a	A	G	7: 101,501,083	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,299,783	K1062*	probably null	Het
Phc1	A	T	6: 122,323,717		probably benign	Het
Pik3c2g	T	A	6: 139,918,004	S764T	probably benign	Het
Pmp2	T	G	3: 10,182,202	R89S	probably benign	Het
Prdm2	A	G	4: 143,134,929	L597P	probably damaging	Het
Rfx6	T	A	10: 51,678,328	D88E	probably benign	Het
Rgs9	T	C	11: 109,225,652	S442G	possibly damaging	Het
Ror2	C	T	13: 53,131,932	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,978,026	A986E	possibly damaging	Het
Slc5a5	T	A	8: 70,888,911	M325L	possibly damaging	Het
Sppl2c	G	A	11: 104,186,937	V188I	probably benign	Het
Srrm3	G	T	5: 135,835,249	C67F	probably damaging	Het
Stk31	A	G	6: 49,421,688	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,405,751	R75*	probably null	Het
Trav8d-1	T	C	14: 52,778,800	S48P	probably benign	Het
Vrk1	A	T	12: 106,051,002	Q95L	probably benign	Het
Wdr25	C	A	12: 108,898,601	T224K	probably benign	Het
Wdr37	A	T	13: 8,842,784	H224Q	probably damaging	Het
Zhx1	C	T	15: 58,054,371	E160K	probably damaging	Het

Other mutations in Btf3l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Btf3l4	APN	4	108816859	missense	probably benign	0.04
IGL01409:Btf3l4	APN	4	108819197	missense	probably damaging	0.99
IGL02606:Btf3l4	APN	4	108818214	missense	probably benign	0.00
R7467:Btf3l4	UTSW	4	108818392	splice site	probably null

Posted On

2015-04-16