Mutagenetix > Incidental Mutation

Incidental Mutation 'R5601:Bltp3a'

439045

Institutional Source

Beutler Lab

Gene Symbol

Bltp3a

Ensembl Gene

ENSMUSG00000039512

Gene Name

bridge-like lipid transfer protein family member 3A

Synonyms

1110020K19Rik, F830021D11Rik, Uhrf1bp1

MMRRC Submission

043153-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28075481-28119014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28103468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 392 (A392D)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114849]

AlphaFold

B2KF50

Predicted Effect

probably damaging
Transcript: ENSMUST00000114849
AA Change: A392D

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

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: A392D

Domain	Start	End	E-Value	Type
Pfam:Chorein_N	1	104	2.6e-18	PFAM
low complexity region	234	247	N/A	INTRINSIC
low complexity region	297	306	N/A	INTRINSIC
low complexity region	1128	1144	N/A	INTRINSIC
low complexity region	1200	1216	N/A	INTRINSIC
low complexity region	1322	1333	N/A	INTRINSIC
low complexity region	1375	1386	N/A	INTRINSIC
coiled coil region	1394	1424	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130810

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	G	A	13: 91,931,029 (GRCm39)	V426I	probably benign	Het
Asmt	T	C	X: 169,110,127 (GRCm39)	V212A	probably damaging	Het
Atn1	A	G	6: 124,720,191 (GRCm39)		probably null	Het
Auts2	G	T	5: 131,505,662 (GRCm39)		probably benign	Het
AW551984	C	T	9: 39,502,563 (GRCm39)	V672M	possibly damaging	Het
Ccdc13	G	A	9: 121,629,638 (GRCm39)	Q114*	probably null	Het
Ces2e	A	T	8: 105,656,126 (GRCm39)	I146F	probably benign	Het
Cfap44	A	G	16: 44,280,549 (GRCm39)	K1443E	probably damaging	Het
Cma2	T	A	14: 56,211,246 (GRCm39)	H179Q	possibly damaging	Het
Cpsf2	G	T	12: 101,951,614 (GRCm39)		probably null	Het
Cwh43	A	G	5: 73,575,283 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dram1	A	G	10: 88,160,629 (GRCm39)	S231P	probably damaging	Het
Fbxw7	A	G	3: 84,883,515 (GRCm39)	D482G	probably damaging	Het
Fstl1	T	C	16: 37,647,161 (GRCm39)	I177T	probably benign	Het
Fut9	T	C	4: 25,620,299 (GRCm39)	T172A	probably benign	Het
Gm5134	G	A	10: 75,821,786 (GRCm39)	V207M	probably damaging	Het
Hccs	G	A	X: 168,096,597 (GRCm39)	R203C	probably damaging	Het
Hmgxb3	A	T	18: 61,270,694 (GRCm39)	F877I	probably damaging	Het
Ide	A	G	19: 37,292,379 (GRCm39)	V272A	unknown	Het
Impact	C	T	18: 13,109,064 (GRCm39)	T65I	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Muc17	A	G	5: 137,166,863 (GRCm39)	S309P	probably damaging	Het
Myf6	A	C	10: 107,330,475 (GRCm39)	S31A	probably damaging	Het
Or4n4b	C	A	14: 50,536,318 (GRCm39)	W149C	probably damaging	Het
Or8b35	C	G	9: 37,904,010 (GRCm39)	T74R	possibly damaging	Het
P4hb	T	A	11: 120,462,441 (GRCm39)	E88D	possibly damaging	Het
Pcdhb9	T	C	18: 37,535,259 (GRCm39)	C418R	probably damaging	Het
Pramel51	T	C	12: 88,142,817 (GRCm39)	D267G	probably damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,728,987 (GRCm39)		probably null	Het
Prss58	A	T	6: 40,874,783 (GRCm39)	N19K	possibly damaging	Het
Ptprq	C	T	10: 107,444,291 (GRCm39)	A1438T	probably benign	Het
Rfx4	A	T	10: 84,634,442 (GRCm39)	T61S	probably damaging	Het
Sclt1	T	A	3: 41,685,354 (GRCm39)	N35Y	probably benign	Het
Sec24b	CTG	CTGGTG	3: 129,834,483 (GRCm39)		probably benign	Het
Serpinb12	T	C	1: 106,881,427 (GRCm39)	I188T	probably damaging	Het
Slc27a4	A	T	2: 29,695,672 (GRCm39)	Y69F	probably benign	Het
Slc3a1	T	C	17: 85,340,319 (GRCm39)	V247A	probably benign	Het
Slc4a2	C	T	5: 24,643,772 (GRCm39)	T854I	probably benign	Het
Stat5b	G	A	11: 100,674,001 (GRCm39)	T761M	probably damaging	Het
Stkld1	T	C	2: 26,842,717 (GRCm39)	L563P	probably damaging	Het
Tbc1d23	C	A	16: 57,018,672 (GRCm39)	C283F	probably benign	Het
Tcaf3	T	C	6: 42,564,462 (GRCm39)	N900S	possibly damaging	Het
Tkfc	T	C	19: 10,571,927 (GRCm39)	T370A	probably benign	Het
Tpr	T	C	1: 150,311,604 (GRCm39)	V1868A	possibly damaging	Het
Triobp	T	A	15: 78,857,833 (GRCm39)	W1145R	probably damaging	Het
Vmn2r82	T	G	10: 79,232,025 (GRCm39)	L675V	probably damaging	Het
Zfp423	T	C	8: 88,508,637 (GRCm39)	E444G	probably damaging	Het

Other mutations in Bltp3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Bltp3a	APN	17	28,095,891 (GRCm39)	splice site	probably benign
IGL00786:Bltp3a	APN	17	28,098,266 (GRCm39)	missense	probably damaging	0.99
IGL01074:Bltp3a	APN	17	28,098,265 (GRCm39)	missense	possibly damaging	0.94
IGL01780:Bltp3a	APN	17	28,112,474 (GRCm39)	missense	probably damaging	1.00
IGL02668:Bltp3a	APN	17	28,105,549 (GRCm39)	missense	possibly damaging	0.53
IGL02686:Bltp3a	APN	17	28,113,563 (GRCm39)	missense	probably benign
IGL03240:Bltp3a	APN	17	28,112,227 (GRCm39)	missense	probably benign	0.37
hades	UTSW	17	28,113,720 (GRCm39)	missense	probably damaging	1.00
R0167:Bltp3a	UTSW	17	28,099,176 (GRCm39)	missense	possibly damaging	0.46
R0240:Bltp3a	UTSW	17	28,114,844 (GRCm39)	splice site	probably benign
R0332:Bltp3a	UTSW	17	28,112,268 (GRCm39)	critical splice donor site	probably null
R0668:Bltp3a	UTSW	17	28,114,913 (GRCm39)	missense	probably benign	0.16
R0726:Bltp3a	UTSW	17	28,104,463 (GRCm39)	missense	possibly damaging	0.50
R0964:Bltp3a	UTSW	17	28,106,152 (GRCm39)	missense	probably damaging	0.96
R1125:Bltp3a	UTSW	17	28,112,423 (GRCm39)	missense	probably damaging	1.00
R1139:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R1164:Bltp3a	UTSW	17	28,114,354 (GRCm39)	critical splice donor site	probably null
R1192:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R1277:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R1279:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R1340:Bltp3a	UTSW	17	28,113,695 (GRCm39)	missense	probably benign	0.00
R1341:Bltp3a	UTSW	17	28,096,393 (GRCm39)	splice site	probably benign
R1344:Bltp3a	UTSW	17	28,113,551 (GRCm39)	missense	probably benign	0.41
R1418:Bltp3a	UTSW	17	28,113,551 (GRCm39)	missense	probably benign	0.41
R1552:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R1726:Bltp3a	UTSW	17	28,105,225 (GRCm39)	splice site	probably null
R1791:Bltp3a	UTSW	17	28,113,720 (GRCm39)	missense	probably damaging	1.00
R1796:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R2858:Bltp3a	UTSW	17	28,104,436 (GRCm39)	missense	probably damaging	0.99
R3034:Bltp3a	UTSW	17	28,113,720 (GRCm39)	missense	probably damaging	1.00
R4111:Bltp3a	UTSW	17	28,105,064 (GRCm39)	nonsense	probably null
R4159:Bltp3a	UTSW	17	28,103,061 (GRCm39)	missense	probably damaging	1.00
R4160:Bltp3a	UTSW	17	28,103,061 (GRCm39)	missense	probably damaging	1.00
R4161:Bltp3a	UTSW	17	28,103,061 (GRCm39)	missense	probably damaging	1.00
R4431:Bltp3a	UTSW	17	28,104,905 (GRCm39)	missense	probably damaging	1.00
R4575:Bltp3a	UTSW	17	28,106,477 (GRCm39)	missense	probably benign	0.02
R4657:Bltp3a	UTSW	17	28,109,079 (GRCm39)	missense	probably benign	0.09
R4666:Bltp3a	UTSW	17	28,112,477 (GRCm39)	missense	possibly damaging	0.95
R4825:Bltp3a	UTSW	17	28,096,368 (GRCm39)	missense	probably damaging	0.98
R4872:Bltp3a	UTSW	17	28,109,110 (GRCm39)	missense	probably benign	0.10
R4956:Bltp3a	UTSW	17	28,108,958 (GRCm39)	splice site	probably null
R4976:Bltp3a	UTSW	17	28,103,000 (GRCm39)	missense	probably damaging	0.99
R4982:Bltp3a	UTSW	17	28,105,580 (GRCm39)	missense	probably benign	0.05
R5017:Bltp3a	UTSW	17	28,113,713 (GRCm39)	nonsense	probably null
R5033:Bltp3a	UTSW	17	28,105,838 (GRCm39)	missense	probably damaging	0.99
R5137:Bltp3a	UTSW	17	28,095,964 (GRCm39)	splice site	probably null
R5159:Bltp3a	UTSW	17	28,100,530 (GRCm39)	missense	probably damaging	0.98
R5177:Bltp3a	UTSW	17	28,103,992 (GRCm39)	missense	possibly damaging	0.94
R5196:Bltp3a	UTSW	17	28,075,737 (GRCm39)	missense	probably benign	0.09
R5214:Bltp3a	UTSW	17	28,106,489 (GRCm39)	missense	probably benign
R5352:Bltp3a	UTSW	17	28,106,489 (GRCm39)	missense	probably benign
R5354:Bltp3a	UTSW	17	28,106,489 (GRCm39)	missense	probably benign
R5425:Bltp3a	UTSW	17	28,106,489 (GRCm39)	missense	probably benign
R6080:Bltp3a	UTSW	17	28,099,271 (GRCm39)	missense	probably benign
R6088:Bltp3a	UTSW	17	28,103,579 (GRCm39)	critical splice donor site	probably null
R6331:Bltp3a	UTSW	17	28,112,175 (GRCm39)	missense	probably benign	0.01
R6529:Bltp3a	UTSW	17	28,098,750 (GRCm39)	missense	possibly damaging	0.90
R6614:Bltp3a	UTSW	17	28,095,899 (GRCm39)	missense	probably benign	0.18
R6701:Bltp3a	UTSW	17	28,106,331 (GRCm39)	nonsense	probably null
R7082:Bltp3a	UTSW	17	28,109,039 (GRCm39)	missense	probably damaging	1.00
R7158:Bltp3a	UTSW	17	28,105,407 (GRCm39)	nonsense	probably null
R8338:Bltp3a	UTSW	17	28,095,669 (GRCm39)	missense	probably damaging	1.00
R8914:Bltp3a	UTSW	17	28,105,887 (GRCm39)	missense	possibly damaging	0.66
R9135:Bltp3a	UTSW	17	28,104,902 (GRCm39)	nonsense	probably null
R9218:Bltp3a	UTSW	17	28,114,529 (GRCm39)	missense	probably benign	0.00
R9421:Bltp3a	UTSW	17	28,095,660 (GRCm39)	missense	probably damaging	1.00
R9495:Bltp3a	UTSW	17	28,112,414 (GRCm39)	missense	probably damaging	1.00
R9514:Bltp3a	UTSW	17	28,112,414 (GRCm39)	missense	probably damaging	1.00
R9621:Bltp3a	UTSW	17	28,105,753 (GRCm39)	missense	probably benign	0.00
R9766:Bltp3a	UTSW	17	28,105,799 (GRCm39)	missense	probably damaging	1.00
RF005:Bltp3a	UTSW	17	28,104,505 (GRCm39)	missense	probably damaging	1.00
X0017:Bltp3a	UTSW	17	28,096,315 (GRCm39)	missense	probably benign	0.03
Z1176:Bltp3a	UTSW	17	28,105,280 (GRCm39)	missense	probably damaging	1.00
Z1176:Bltp3a	UTSW	17	28,095,650 (GRCm39)	missense	probably damaging	1.00
Z1177:Bltp3a	UTSW	17	28,103,940 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- GTAGTCCAGAGCCAGAAGTG -3'
(R):5'- AGAGACAGTGCTTCACCTCCAC -3'

Sequencing Primer
(F):5'- AGAAGTGGCCCCTTCCTC -3'
(R):5'- TTCACCTCCACCAGCTACTTAAAG -3'

Posted On

2016-10-26