Mutagenetix > Incidental Mutation

Incidental Mutation 'R6614:Bltp3a'

523887

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

044737-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6614 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28075481-28119014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28095899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 70 (I70N)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

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

AlphaFold

B2KF50

Predicted Effect

probably benign
Transcript: ENSMUST00000114849
AA Change: I70N

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: I70N

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: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	A	8: 125,587,986 (GRCm39)		probably null	Het
Abca13	A	T	11: 9,244,371 (GRCm39)	N2078I	probably benign	Het
Abcc2	A	G	19: 43,807,800 (GRCm39)	I814V	probably benign	Het
Adamts4	A	G	1: 171,084,193 (GRCm39)	R557G	probably benign	Het
Bysl	A	T	17: 47,912,767 (GRCm39)	L341Q	probably damaging	Het
Csmd1	C	T	8: 17,266,803 (GRCm39)	G41D	probably damaging	Het
Dnah11	T	C	12: 117,850,411 (GRCm39)	D4221G	possibly damaging	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Dnajc21	A	G	15: 10,470,349 (GRCm39)		probably null	Het
Elavl1	C	A	8: 4,339,818 (GRCm39)	A255S	probably damaging	Het
Filip1	C	T	9: 79,723,121 (GRCm39)	G1166D	probably damaging	Het
Gnptg	T	C	17: 25,454,235 (GRCm39)	Y184C	probably damaging	Het
Ifit3b	A	T	19: 34,588,919 (GRCm39)	S32C	probably benign	Het
Kcnh7	T	G	2: 62,607,940 (GRCm39)	Y547S	probably damaging	Het
Lima1	G	A	15: 99,681,461 (GRCm39)	A243V	probably damaging	Het
Mast3	T	A	8: 71,234,610 (GRCm39)	I67F	possibly damaging	Het
Ncor1	A	C	11: 62,221,645 (GRCm39)	M1283R	probably benign	Het
Ndufv1	G	A	19: 4,058,749 (GRCm39)	T253I	probably benign	Het
Neurog1	G	T	13: 56,399,637 (GRCm39)	Q37K	probably benign	Het
Nol4	T	G	18: 23,053,913 (GRCm39)	K200Q	probably damaging	Het
Obscn	T	C	11: 58,903,627 (GRCm39)	H7599R	probably benign	Het
Oog4	A	G	4: 143,164,445 (GRCm39)	V362A	possibly damaging	Het
Oosp1	T	A	19: 11,668,314 (GRCm39)	D23V	probably damaging	Het
Or11a4	T	C	17: 37,536,790 (GRCm39)	V258A	probably benign	Het
Or11g24	C	T	14: 50,662,546 (GRCm39)	T190I	probably benign	Het
Or4k1	T	A	14: 50,377,821 (GRCm39)	I92F	probably damaging	Het
Or4n4b	T	A	14: 50,536,494 (GRCm39)	I91L	probably benign	Het
Or7a41	C	A	10: 78,870,925 (GRCm39)	C98*	probably null	Het
P2rx3	A	G	2: 84,865,543 (GRCm39)	I34T	probably damaging	Het
Pate7	A	G	9: 35,688,421 (GRCm39)	W55R	probably damaging	Het
Pla2g4a	A	T	1: 149,717,986 (GRCm39)	V621E	probably benign	Het
Prpf39	T	G	12: 65,089,337 (GRCm39)	V25G	probably benign	Het
Psd	T	C	19: 46,301,851 (GRCm39)	K913E	probably benign	Het
Ptx4	A	T	17: 25,341,676 (GRCm39)	R50S	possibly damaging	Het
Rex2	A	T	4: 147,137,018 (GRCm39)	M16L	probably benign	Het
Serac1	A	T	17: 6,095,937 (GRCm39)	V604E	probably damaging	Het
Sp140l2	A	C	1: 85,179,781 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,127,482 (GRCm39)	N1843Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stxbp6	T	A	12: 44,908,058 (GRCm39)	T187S	probably benign	Het
Tg	G	A	15: 66,607,108 (GRCm39)	C215Y	probably damaging	Het
Top2b	A	T	14: 16,407,142 (GRCm38)	K671*	probably null	Het
Trmt1	G	T	8: 85,415,962 (GRCm39)	V7L	probably benign	Het
Ttn	C	T	2: 76,615,174 (GRCm39)	R15102H	probably benign	Het
Unc79	A	T	12: 102,957,689 (GRCm39)	I35F	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
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
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'- AGCTGGACGAAGAGGTTCTG -3'
(R):5'- CAAGGGAATTTAAGAATGGTGCTTG -3'

Sequencing Primer
(F):5'- CGAAGAGGTTCTGCAGAATGTTC -3'
(R):5'- CAAACGCATGCCAGGTAGTG -3'

Posted On

2018-06-22