Mutagenetix > Incidental Mutation

Incidental Mutation 'R1279:Bltp3a'

150986

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

039345-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1279 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28075481-28119014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28109045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1088 (F1088S)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114849
AA Change: F1088S

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: F1088S

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: ENSMUST00000137825

Meta Mutation Damage Score

0.1269

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Atp6v0d2	A	T	4: 19,878,298 (GRCm39)	M325K	probably benign	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm17305	TCTCCTCCTCCTCCTCCTCCTC	TCTCCTCCTCCTCCTCCTC	11: 69,260,175 (GRCm39)		probably benign	Het
Mfap5	A	G	6: 122,503,722 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,591,660 (GRCm39)		probably null	Het
Oas1a	A	G	5: 121,035,241 (GRCm39)		probably null	Het
Oat	A	T	7: 132,168,809 (GRCm39)	L137H	probably damaging	Het
Or10h5	T	C	17: 33,435,300 (GRCm39)	Y6C	possibly damaging	Het
Or2n1c	A	G	17: 38,519,678 (GRCm39)	I181V	probably benign	Het
Or5h17	G	A	16: 58,820,501 (GRCm39)	G151D	possibly damaging	Het
Padi3	T	C	4: 140,530,888 (GRCm39)	S45G	probably benign	Het
Pias1	A	G	9: 62,799,427 (GRCm39)	S488P	probably damaging	Het
Plxnb2	G	A	15: 89,046,524 (GRCm39)	T873I	probably benign	Het
Ppp4r2	A	T	6: 100,842,879 (GRCm39)	R176*	probably null	Het
Pramel51	C	T	12: 88,142,650 (GRCm39)	V323M	probably benign	Het
Prkdc	A	T	16: 15,508,146 (GRCm39)	L932F	probably damaging	Het
Ros1	C	A	10: 52,018,262 (GRCm39)	A799S	possibly damaging	Het
Scn4a	A	T	11: 106,226,508 (GRCm39)	I684N	probably damaging	Het
Sypl2	A	G	3: 108,124,990 (GRCm39)	F124L	probably damaging	Het
Tacr1	G	T	6: 82,534,164 (GRCm39)	E397*	probably null	Het
Vmn1r7	T	C	6: 57,001,934 (GRCm39)	T109A	possibly damaging	Het
Zp1	A	G	19: 10,895,941 (GRCm39)	S232P	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
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
R5601:Bltp3a	UTSW	17	28,103,468 (GRCm39)	missense	probably damaging	1.00
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'- TTACCTGTCAGAACTGGGGAAGCG -3'
(R):5'- GGTGACCTTGTAGCCTTAAGACCAC -3'

Sequencing Primer
(F):5'- CGGATCAGCCTGAGGATG -3'
(R):5'- acgggagtgtgtggtgg -3'

Posted On

2014-01-29