Mutagenetix > Incidental Mutation

Incidental Mutation 'R8470:Btf3l4b'

657004

Institutional Source

Beutler Lab

Gene Symbol

Btf3l4b

Ensembl Gene

ENSMUSG00000114133

Gene Name

basic transcription factor 3 like 4B

Synonyms

Gm20075

MMRRC Submission

067914-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R8470 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96215741-96217883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 96217432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 136 (D136Y)

Ref Sequence

ENSEMBL: ENSMUSP00000152074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161263] [ENSMUST00000182289] [ENSMUST00000185178] [ENSMUST00000220449]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000161263

SMART Domains

Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111

Domain	Start	End	E-Value	Type
low complexity region	51	61	N/A	INTRINSIC
Pfam:Sugar_tr	117	428	9.1e-31	PFAM
Pfam:MFS_1	154	470	5e-27	PFAM
Pfam:Pentapeptide_4	496	573	4.8e-12	PFAM
Pfam:MFS_1	564	725	1.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182289

SMART Domains

Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111

Domain	Start	End	E-Value	Type
low complexity region	51	61	N/A	INTRINSIC
Pfam:Sugar_tr	119	427	2.2e-30	PFAM
Pfam:MFS_1	154	470	5e-27	PFAM
Pfam:Pentapeptide_4	496	571	6.2e-15	PFAM
transmembrane domain	581	603	N/A	INTRINSIC
transmembrane domain	610	632	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185178

SMART Domains

Protein: ENSMUSP00000138965
Gene: ENSMUSG00000099115

Domain	Start	End	E-Value	Type
internal_repeat_1	32	57	4.12e-5	PROSPERO
RRM	72	144	5.93e-17	SMART
low complexity region	153	278	N/A	INTRINSIC
low complexity region	286	311	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220449
AA Change: D136Y

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,476,685 (GRCm39)	I142F	probably damaging	Het
Adamts16	A	G	13: 70,984,496 (GRCm39)	Y56H	probably damaging	Het
Alms1	A	G	6: 85,618,357 (GRCm39)	D2801G	probably damaging	Het
Anpep	A	G	7: 79,489,269 (GRCm39)	I301T	probably benign	Het
Atxn7l2	G	A	3: 108,114,285 (GRCm39)	T159M	probably benign	Het
B130006D01Rik	C	T	11: 95,617,175 (GRCm39)		probably benign	Het
Ccdc175	T	C	12: 72,202,392 (GRCm39)	K301R	probably damaging	Het
Cecr2	A	T	6: 120,733,894 (GRCm39)	Q627L	probably benign	Het
Cerkl	C	A	2: 79,172,751 (GRCm39)	M307I	probably benign	Het
Eif2ak4	A	G	2: 118,293,207 (GRCm39)	I1254M	probably damaging	Het
Epha3	T	C	16: 63,664,510 (GRCm39)	T37A	probably benign	Het
Fancm	T	C	12: 65,171,931 (GRCm39)	V1857A	probably damaging	Het
Gm3486	T	C	14: 41,206,538 (GRCm39)		probably null	Het
Il1r2	T	C	1: 40,162,416 (GRCm39)	V353A	probably damaging	Het
Irgq	A	T	7: 24,233,715 (GRCm39)	R519W	probably damaging	Het
Map1b	T	A	13: 99,652,950 (GRCm39)	S16C	probably damaging	Het
Myo9a	T	G	9: 59,739,573 (GRCm39)	C762G	probably damaging	Het
Nup107	A	T	10: 117,606,374 (GRCm39)	V454E	probably damaging	Het
Or10h5	A	G	17: 33,434,868 (GRCm39)	V150A	probably benign	Het
Or4p20	A	T	2: 88,254,228 (GRCm39)	I47N	probably damaging	Het
Or7g35	T	G	9: 19,496,265 (GRCm39)	L144R	probably damaging	Het
Pcdha11	A	G	18: 37,145,937 (GRCm39)	K676R	probably benign	Het
Pknox2	C	T	9: 36,834,986 (GRCm39)	R161H	probably damaging	Het
Prr5l	T	C	2: 101,547,430 (GRCm39)	N365S	probably benign	Het
Prrg4	A	G	2: 104,679,501 (GRCm39)	L8P	probably damaging	Het
Rasgrp2	T	A	19: 6,453,595 (GRCm39)		probably null	Het
Rtp4	A	T	16: 23,428,827 (GRCm39)	H30L	probably benign	Het
Rxfp2	T	G	5: 149,993,834 (GRCm39)	I632S	possibly damaging	Het
Spata31h1	A	C	10: 82,126,314 (GRCm39)	F2232C	probably damaging	Het
Sptbn1	C	A	11: 30,070,758 (GRCm39)	E1533D	possibly damaging	Het
Ssbp1	A	G	6: 40,454,941 (GRCm39)	I133M	probably damaging	Het
Stap1	A	G	5: 86,242,602 (GRCm39)	I188V	possibly damaging	Het
Topaz1	T	C	9: 122,603,173 (GRCm39)	M1040T	probably benign	Het
Trpm3	T	C	19: 22,887,501 (GRCm39)	F877L	possibly damaging	Het
Ush1c	A	G	7: 45,858,674 (GRCm39)	L538P	probably damaging	Het
Zfp518a	G	A	19: 40,904,162 (GRCm39)	A1364T	probably benign	Het

Other mutations in Btf3l4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R8145:Btf3l4b	UTSW	13	96,217,649 (GRCm39)	missense	probably benign	0.02
R9301:Btf3l4b	UTSW	13	96,217,621 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAAATGACCGAGAACTGCTGAG -3'
(R):5'- CCGCTAACACCTTTGCAATTACTG -3'

Sequencing Primer
(F):5'- AGGTGTGTTCTCCATGTC -3'
(R):5'- TTACTGGTCATGCAGAAGCC -3'

Posted On

2021-01-18