Mutagenetix > Incidental Mutation

Incidental Mutation 'R0668:Bltp3a'

62109

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

038853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0668 (G1)

Quality Score

153

Status

Not validated

Chromosome

Chromosomal Location

28075481-28119014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28114913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1408 (I1408F)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

probably benign
Transcript: ENSMUST00000114849
AA Change: I1408F

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: I1408F

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,302,773 (GRCm39)	Q2149K	probably damaging	Het
Aifm1	T	C	X: 47,583,668 (GRCm39)	Q210R	probably benign	Het
Arhgef1	A	G	7: 24,607,345 (GRCm39)	N31D	possibly damaging	Het
Asic5	T	A	3: 81,928,308 (GRCm39)	Y424N	probably damaging	Het
Cfb	G	T	17: 35,076,079 (GRCm39)	Q1176K	probably benign	Het
Chdh	A	G	14: 29,757,837 (GRCm39)	H447R	probably damaging	Het
Cpd	A	C	11: 76,675,224 (GRCm39)	V1299G	probably damaging	Het
Dnase1l3	A	G	14: 7,968,086 (GRCm38)		probably null	Het
Dnhd1	A	G	7: 105,344,958 (GRCm39)	T2101A	probably benign	Het
Efcab3	A	T	11: 104,611,318 (GRCm39)	I387F	probably benign	Het
Fchsd2	A	G	7: 100,846,127 (GRCm39)	K188E	possibly damaging	Het
Gm10549	A	G	18: 33,603,903 (GRCm39)	T129A	unknown	Het
Jph1	T	A	1: 17,161,895 (GRCm39)	T256S	probably damaging	Het
Kcnma1	A	G	14: 23,417,563 (GRCm39)	Y768H	probably damaging	Het
Lcmt1	G	A	7: 123,002,094 (GRCm39)	D120N	probably damaging	Het
Ly6g6d	G	A	17: 35,290,715 (GRCm39)	H72Y	probably damaging	Het
Myom3	A	G	4: 135,492,237 (GRCm39)	D127G	possibly damaging	Het
Or10c1	T	A	17: 37,522,535 (GRCm39)	I70F	probably damaging	Het
Pira13	G	A	7: 3,825,699 (GRCm39)	T390I	probably damaging	Het
Sart1	T	C	19: 5,434,284 (GRCm39)	Y249C	probably damaging	Het
Scin	A	G	12: 40,130,948 (GRCm39)	Y322H	probably damaging	Het
Slc44a3	T	C	3: 121,303,852 (GRCm39)	T295A	probably damaging	Het
Slc4a5	T	A	6: 83,248,054 (GRCm39)	L535Q	probably damaging	Het
Them5	A	T	3: 94,251,720 (GRCm39)	K110N	probably benign	Het
Vmn1r32	T	A	6: 66,530,644 (GRCm39)	Q44L	possibly damaging	Het
Vmn2r93	T	A	17: 18,518,667 (GRCm39)	M42K	probably benign	Het
Zfp143	A	T	7: 109,660,481 (GRCm39)		probably benign	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
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
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'- CAACTGCACACAGGAGTTGGTAGG -3'
(R):5'- ACAAGGCTACGTAATGGCAAGACAC -3'

Sequencing Primer
(F):5'- GCAGAGAGCCCTAGTTACTTG -3'
(R):5'- GGACACAGCCACCCTCTG -3'

Posted On

2013-07-30