Mutagenetix > Incidental Mutation

Incidental Mutation 'R8402:Btnl4'

652251

Institutional Source

Beutler Lab

Gene Symbol

Btnl4

Ensembl Gene

ENSMUSG00000058435

Gene Name

butyrophilin-like 4

Synonyms

Btnl4, EG632126, NG11

MMRRC Submission

067878-MU

Accession Numbers

Genbank: NM_001039241; MGI: 1932036

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8402 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34469042-34475937 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34469493 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 437 (Y437C)

Ref Sequence

ENSEMBL: ENSMUSP00000064161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065841]

AlphaFold

A2CG29

Predicted Effect

probably damaging
Transcript: ENSMUST00000065841
AA Change: Y437C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064161
Gene: ENSMUSG00000058435
AA Change: Y437C

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	37	145	2.44e-7	SMART
Pfam:C2-set_2	150	233	3.6e-6	PFAM
low complexity region	255	268	N/A	INTRINSIC
low complexity region	316	328	N/A	INTRINSIC
PRY	341	386	7.43e-2	SMART
SPRY	387	510	4.67e-20	SMART
low complexity region	514	554	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	A	6: 129,323,044	D157V	possibly damaging	Het
Adamts12	A	T	15: 11,263,290	K579N	probably damaging	Het
Adcy7	T	C	8: 88,308,735	V89A	probably benign	Het
Anapc1	G	A	2: 128,630,228	S1458L	probably benign	Het
AW551984	T	C	9: 39,597,653	Y325C	probably damaging	Het
Ccdc88a	T	A	11: 29,463,879	S806T	probably damaging	Het
Ddit4l	A	G	3: 137,626,127	T85A	probably damaging	Het
Dmxl1	G	A	18: 49,878,326	W1183*	probably null	Het
Dmxl1	G	C	18: 49,878,327	D1184H	probably benign	Het
Dmxl1	G	T	18: 49,878,342	V1189L	probably benign	Het
Evpl	T	C	11: 116,225,371	D820G	probably benign	Het
Fam76b	T	C	9: 13,839,676	S289P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Gabrb2	T	C	11: 42,487,304	W116R	probably damaging	Het
Galnt7	G	A	8: 57,542,919	A355V	probably damaging	Het
Klk1b5	T	G	7: 44,218,538	F45V	probably benign	Het
Nav2	T	C	7: 49,453,437	V661A	probably benign	Het
Nfkbiz	T	C	16: 55,816,387	N517S	probably damaging	Het
Olfr1330	A	G	4: 118,893,519	I145M	probably benign	Het
Olfr975	T	A	9: 39,950,417	Y118F	probably benign	Het
P2rx1	T	C	11: 73,013,889	F368L	probably damaging	Het
Palld	A	T	8: 61,711,406	V417E	probably damaging	Het
Robo1	C	A	16: 73,024,497	A1375E	probably benign	Het
Rps24	G	T	14: 24,490,761		probably benign	Het
Serpind1	A	G	16: 17,337,085	N259D	probably benign	Het
Sh3bp4	C	A	1: 89,145,315	N628K	probably benign	Het
Tada3	A	T	6: 113,374,813	L177Q	probably damaging	Het
Tcam1	T	A	11: 106,286,905	L508Q	probably damaging	Het
Thbs1	T	C	2: 118,115,878	S360P	possibly damaging	Het
Tmem33	T	C	5: 67,267,375		probably benign	Het
Vmn2r3	A	G	3: 64,271,196		probably benign	Het
Vwa3b	A	G	1: 37,165,798	E121G	probably damaging	Het
Zfp607b	T	A	7: 27,702,702	H194Q	probably damaging	Het
Zfp729b	G	A	13: 67,592,577	P523L	probably damaging	Het

Other mutations in Btnl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02451:Btnl4	APN	17	34475927	missense	probably benign	0.34
FR4589:Btnl4	UTSW	17	34472636	missense	probably benign	0.30
N/A:Btnl4	UTSW	17	34472586	splice site	probably benign
PIT4458001:Btnl4	UTSW	17	34474268	missense	probably benign	0.25
R0601:Btnl4	UTSW	17	34469311	missense	probably benign	0.07
R0718:Btnl4	UTSW	17	34469634	missense	probably benign	0.44
R1163:Btnl4	UTSW	17	34470075	missense	possibly damaging	0.65
R1823:Btnl4	UTSW	17	34475852	critical splice donor site	probably null
R1954:Btnl4	UTSW	17	34472930	missense	possibly damaging	0.87
R1955:Btnl4	UTSW	17	34472930	missense	possibly damaging	0.87
R4649:Btnl4	UTSW	17	34472628	missense	probably benign	0.12
R4651:Btnl4	UTSW	17	34472628	missense	probably benign	0.12
R4681:Btnl4	UTSW	17	34470101	splice site	probably null
R6081:Btnl4	UTSW	17	34474236	missense	probably damaging	1.00
R6770:Btnl4	UTSW	17	34474037	missense	probably benign	0.26
R6859:Btnl4	UTSW	17	34469379	missense	probably damaging	1.00
R6885:Btnl4	UTSW	17	34472945	missense	probably benign	0.00
R7265:Btnl4	UTSW	17	34475894	missense	probably benign	0.00
R7316:Btnl4	UTSW	17	34469057	missense	probably benign	0.06
R7454:Btnl4	UTSW	17	34472374	missense	probably benign
R7908:Btnl4	UTSW	17	34473187	missense	possibly damaging	0.71
R7991:Btnl4	UTSW	17	34474283	missense	probably damaging	0.99
R8086:Btnl4	UTSW	17	34474002	critical splice donor site	probably null
R9566:Btnl4	UTSW	17	34469289	missense	probably benign	0.00
X0023:Btnl4	UTSW	17	34475930	missense	possibly damaging	0.61
Z1177:Btnl4	UTSW	17	34470060	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTCCAGACTTAAGCCTGAAGTATGG -3'
(R):5'- GATTCCACTCTGTGCTTGGATG -3'

Sequencing Primer
(F):5'- CCTGAAGTATGGAAAAAGAGTCCC -3'
(R):5'- ACCTCTTCTGTGTGTTAGGCATCAG -3'

Posted On

2020-10-20