Mutagenetix > Incidental Mutation

Incidental Mutation 'R6859:Btnl4'

537823

Institutional Source

Beutler Lab

Gene Symbol

Btnl4

Ensembl Gene

ENSMUSG00000058435

Gene Name

butyrophilin-like 4

Synonyms

NG11, Btn3a3, EG632126

MMRRC Submission

044961-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34687320-34696402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34688353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 475 (D475G)

Ref Sequence

ENSEMBL: ENSMUSP00000064161 (fasta)

Gene Model

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

AlphaFold

A2CG29

Predicted Effect

probably damaging
Transcript: ENSMUST00000065841
AA Change: D475G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064161
Gene: ENSMUSG00000058435
AA Change: D475G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

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

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,669,799 (GRCm39)	V788A	possibly damaging	Het
Abca15	A	T	7: 120,002,217 (GRCm39)	K1577*	probably null	Het
Arhgap12	T	C	18: 6,111,803 (GRCm39)	E187G	probably damaging	Het
Arhgef10	T	A	8: 15,025,005 (GRCm39)	Y398N	probably damaging	Het
Baz2b	C	T	2: 59,731,874 (GRCm39)	V2055I	probably benign	Het
C1qtnf12	T	A	4: 156,050,070 (GRCm39)	F190Y	probably damaging	Het
Cacul1	A	G	19: 60,522,683 (GRCm39)	S284P	probably damaging	Het
Ccdc166	C	A	15: 75,853,820 (GRCm39)	V87L	possibly damaging	Het
Ceacam13	C	T	7: 17,747,032 (GRCm39)	P162S	probably damaging	Het
Cep250	T	A	2: 155,834,446 (GRCm39)	S2124T	probably benign	Het
Chd5	T	C	4: 152,462,664 (GRCm39)	S1372P	probably damaging	Het
Chil3	C	A	3: 106,067,730 (GRCm39)	R145L	probably benign	Het
Cyp4f40	T	C	17: 32,894,923 (GRCm39)	S454P	probably benign	Het
Defa3	T	A	8: 21,778,213 (GRCm39)	C66S	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Glmp	C	A	3: 88,235,349 (GRCm39)	N260K	probably benign	Het
Gsap	T	A	5: 21,486,016 (GRCm39)	L653Q	probably damaging	Het
Il18rap	T	A	1: 40,564,255 (GRCm39)	Y124*	probably null	Het
Lao1	A	C	4: 118,820,948 (GRCm39)	K58T	probably damaging	Het
Lepr	T	A	4: 101,622,487 (GRCm39)		probably null	Het
Mrgpra3	G	C	7: 47,239,781 (GRCm39)	I48M	probably benign	Het
Nck2	T	G	1: 43,593,511 (GRCm39)	N239K	probably benign	Het
Optc	A	T	1: 133,825,554 (GRCm39)	V324E	possibly damaging	Het
Or12k7	A	T	2: 36,958,794 (GRCm39)	Y159F	probably damaging	Het
Or4p8	A	G	2: 88,727,278 (GRCm39)	I221T	probably benign	Het
Or51b6	G	A	7: 103,555,908 (GRCm39)	W84*	probably null	Het
Otog	T	C	7: 45,923,205 (GRCm39)	S1027P	probably damaging	Het
Plbd2	A	G	5: 120,641,407 (GRCm39)	F84L	probably benign	Het
Plxnb1	T	C	9: 108,935,838 (GRCm39)	L110P	probably damaging	Het
Prnp	T	C	2: 131,778,708 (GRCm39)	V120A	possibly damaging	Het
Ptprh	C	A	7: 4,552,370 (GRCm39)	E965*	probably null	Het
Reln	T	C	5: 22,239,568 (GRCm39)	T900A	probably damaging	Het
Stt3a	A	G	9: 36,646,682 (GRCm39)	Y644H	probably damaging	Het
Sulf2	A	G	2: 165,929,039 (GRCm39)	Y311H	probably damaging	Het
Tbc1d32	A	T	10: 56,056,626 (GRCm39)	I438N	probably damaging	Het
Tbcd	T	C	11: 121,387,937 (GRCm39)	V356A	possibly damaging	Het
Tecta	T	C	9: 42,303,425 (GRCm39)	N69S	probably damaging	Het
Topaz1	T	C	9: 122,631,023 (GRCm39)	V1618A	probably benign	Het
Usp48	C	T	4: 137,352,587 (GRCm39)	T627I	possibly damaging	Het
Vcl	T	C	14: 21,037,143 (GRCm39)	V247A	probably damaging	Het
Vmn2r59	A	G	7: 41,693,277 (GRCm39)	L441P	probably damaging	Het
Zfp869	C	T	8: 70,159,175 (GRCm39)	G466D	probably damaging	Het

Other mutations in Btnl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02451:Btnl4	APN	17	34,694,901 (GRCm39)	missense	probably benign	0.34
FR4589:Btnl4	UTSW	17	34,691,610 (GRCm39)	missense	probably benign	0.30
N/A:Btnl4	UTSW	17	34,691,560 (GRCm39)	splice site	probably benign
PIT4458001:Btnl4	UTSW	17	34,693,242 (GRCm39)	missense	probably benign	0.25
R0601:Btnl4	UTSW	17	34,688,285 (GRCm39)	missense	probably benign	0.07
R0718:Btnl4	UTSW	17	34,688,608 (GRCm39)	missense	probably benign	0.44
R1163:Btnl4	UTSW	17	34,689,049 (GRCm39)	missense	possibly damaging	0.65
R1823:Btnl4	UTSW	17	34,694,826 (GRCm39)	critical splice donor site	probably null
R1954:Btnl4	UTSW	17	34,691,904 (GRCm39)	missense	possibly damaging	0.87
R1955:Btnl4	UTSW	17	34,691,904 (GRCm39)	missense	possibly damaging	0.87
R4649:Btnl4	UTSW	17	34,691,602 (GRCm39)	missense	probably benign	0.12
R4651:Btnl4	UTSW	17	34,691,602 (GRCm39)	missense	probably benign	0.12
R4681:Btnl4	UTSW	17	34,689,075 (GRCm39)	splice site	probably null
R6081:Btnl4	UTSW	17	34,693,210 (GRCm39)	missense	probably damaging	1.00
R6770:Btnl4	UTSW	17	34,693,011 (GRCm39)	missense	probably benign	0.26
R6885:Btnl4	UTSW	17	34,691,919 (GRCm39)	missense	probably benign	0.00
R7265:Btnl4	UTSW	17	34,694,868 (GRCm39)	missense	probably benign	0.00
R7316:Btnl4	UTSW	17	34,688,031 (GRCm39)	missense	probably benign	0.06
R7454:Btnl4	UTSW	17	34,691,348 (GRCm39)	missense	probably benign
R7908:Btnl4	UTSW	17	34,692,161 (GRCm39)	missense	possibly damaging	0.71
R7991:Btnl4	UTSW	17	34,693,257 (GRCm39)	missense	probably damaging	0.99
R8086:Btnl4	UTSW	17	34,692,976 (GRCm39)	critical splice donor site	probably null
R8402:Btnl4	UTSW	17	34,688,467 (GRCm39)	missense	probably damaging	1.00
R9566:Btnl4	UTSW	17	34,688,263 (GRCm39)	missense	probably benign	0.00
X0023:Btnl4	UTSW	17	34,694,904 (GRCm39)	missense	possibly damaging	0.61
Z1177:Btnl4	UTSW	17	34,689,034 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGACTCAGAGACTCCTCCAAAG -3'
(R):5'- TTTCTCAGAGTGTCCACATAAGGG -3'

Sequencing Primer
(F):5'- GGAAGCAAAACTAATTTCTTCCCC -3'
(R):5'- TCCACATAAGGGGTTTTGGAC -3'

Posted On

2018-10-18