Mutagenetix > Incidental Mutation

Incidental Mutation 'R7226:Bltp3b'

562168

Institutional Source

Beutler Lab

Gene Symbol

Bltp3b

Ensembl Gene

ENSMUSG00000019951

Gene Name

bridge-like lipid transfer protein family member 3B

Synonyms

Uhrf1bp1l, 2010319N22Rik, E030041M21Rik, 4930506D01Rik

MMRRC Submission

045298-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.415) question?

Stock #

R7226 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89580853-89655733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89644503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1181 (Q1181L)

Ref Sequence

ENSEMBL: ENSMUSP00000020112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020112] [ENSMUST00000218607] [ENSMUST00000220375]

AlphaFold

A2RSJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000020112
AA Change: Q1181L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020112
Gene: ENSMUSG00000019951
AA Change: Q1181L

Domain	Start	End	E-Value	Type
Pfam:Chorein_N	1	103	9.3e-21	PFAM
SCOP:d1c52__	243	304	5e-3	SMART
low complexity region	788	801	N/A	INTRINSIC
low complexity region	862	872	N/A	INTRINSIC
coiled coil region	1410	1455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218607
AA Change: Q69L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000218776

Predicted Effect

probably benign
Transcript: ENSMUST00000220375

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025B11Rik	C	T	15: 77,443,189 (GRCm39)	V17I	unknown	Het
Acad8	T	A	9: 26,889,726 (GRCm39)	K323*	probably null	Het
Adam18	A	T	8: 25,137,824 (GRCm39)	C339S	probably damaging	Het
Anxa7	A	G	14: 20,510,263 (GRCm39)	F396L	probably damaging	Het
Ap2m1	T	A	16: 20,358,201 (GRCm39)	V73D	probably damaging	Het
Asic2	A	T	11: 80,862,340 (GRCm39)	I270N	probably damaging	Het
Atrn	T	G	2: 130,828,664 (GRCm39)	C1070G	probably damaging	Het
Bag6	A	G	17: 35,361,921 (GRCm39)	N517S	unknown	Het
Bhmt1b	A	G	18: 87,775,590 (GRCm39)	D371G	possibly damaging	Het
Cavin1	A	C	11: 100,861,284 (GRCm39)	D3E	probably benign	Het
Cc2d2b	T	C	19: 40,779,751 (GRCm39)	L571P	unknown	Het
Ccbe1	A	T	18: 66,216,199 (GRCm39)	C175S	probably damaging	Het
Cd19	A	G	7: 126,013,995 (GRCm39)	L5P	unknown	Het
Cd46	A	G	1: 194,724,314 (GRCm39)	S362P	possibly damaging	Het
Celf5	A	G	10: 81,303,863 (GRCm39)	S198P	probably damaging	Het
Cep170b	A	G	12: 112,704,359 (GRCm39)	R706G	possibly damaging	Het
Chd3	G	T	11: 69,260,037 (GRCm39)	R61S	unknown	Het
Cpsf6	A	C	10: 117,197,727 (GRCm39)	W253G	unknown	Het
Cyp27a1	G	A	1: 74,776,507 (GRCm39)	G481D	probably damaging	Het
Ddr1	C	T	17: 36,002,039 (GRCm39)	D218N	possibly damaging	Het
Dhx34	A	T	7: 15,932,801 (GRCm39)	V1046D	probably damaging	Het
Dhx9	A	T	1: 153,341,423 (GRCm39)	D608E	probably benign	Het
Dnajc6	C	A	4: 101,496,569 (GRCm39)	A912E	probably damaging	Het
Ehmt1	T	C	2: 24,694,794 (GRCm39)	D1051G	probably damaging	Het
Fam217b	C	A	2: 178,062,996 (GRCm39)	A320E	probably benign	Het
Farsa	T	A	8: 85,590,689 (GRCm39)	I169N	probably benign	Het
Fbn2	A	G	18: 58,170,142 (GRCm39)	C2210R	probably damaging	Het
Fbxo3	T	A	2: 103,880,642 (GRCm39)	S251T	probably benign	Het
Fer1l6	C	T	15: 58,462,384 (GRCm39)	T813I	probably benign	Het
Ftl1-ps1	A	T	13: 74,555,114 (GRCm39)	E131V	probably damaging	Het
Gins3	T	A	8: 96,364,499 (GRCm39)	I83N	probably damaging	Het
Gja3	T	C	14: 57,273,350 (GRCm39)	T341A	probably benign	Het
Gja5	A	G	3: 96,958,174 (GRCm39)	Y77C	probably damaging	Het
Gm7247	A	G	14: 51,602,808 (GRCm39)	K48R	probably damaging	Het
Gsx2	C	A	5: 75,236,621 (GRCm39)	S67*	probably null	Het
H2-Q5	T	A	17: 35,616,089 (GRCm39)	L217Q		Het
Impg2	T	A	16: 56,087,467 (GRCm39)	C1095*	probably null	Het
Itga7	G	T	10: 128,776,801 (GRCm39)	W222L	probably damaging	Het
Kdm2b	T	A	5: 123,059,512 (GRCm39)	D530V	possibly damaging	Het
Klhdc8a	A	T	1: 132,230,344 (GRCm39)	D153V	probably damaging	Het
Lin28a	C	T	4: 133,733,619 (GRCm39)	G143S	probably damaging	Het
Memo1	A	G	17: 74,509,338 (GRCm39)	L227S	probably damaging	Het
Mettl27	T	A	5: 134,964,657 (GRCm39)	V138E	probably damaging	Het
Mov10	G	T	3: 104,708,328 (GRCm39)	L474I	probably damaging	Het
Nat10	T	C	2: 103,557,098 (GRCm39)	N852S	probably benign	Het
Nfkbie	T	C	17: 45,870,153 (GRCm39)	V166A	possibly damaging	Het
Nktr	T	C	9: 121,575,599 (GRCm39)	M369T	probably damaging	Het
Nlrp9a	A	T	7: 26,258,149 (GRCm39)	N589I	probably benign	Het
Nrn1	G	A	13: 36,914,577 (GRCm39)	R8C	probably benign	Het
Nrsn1	A	G	13: 25,437,451 (GRCm39)	I159T	probably damaging	Het
Or1e29	A	G	11: 73,667,503 (GRCm39)	S217P	possibly damaging	Het
Or2h15	C	T	17: 38,441,324 (GRCm39)	G253D	probably benign	Het
Or5p61	A	T	7: 107,758,164 (GRCm39)	D305E	probably benign	Het
Or6c88	G	A	10: 129,406,584 (GRCm39)	G20D	probably benign	Het
Osbp	T	A	19: 11,956,031 (GRCm39)	D385E	probably benign	Het
Pan3	T	A	5: 147,463,802 (GRCm39)	N547K	probably damaging	Het
Pip4p2	T	A	4: 14,892,464 (GRCm39)	D109E	probably damaging	Het
Pum1	C	A	4: 130,499,292 (GRCm39)	T1036K	probably damaging	Het
Rad54l2	C	A	9: 106,590,671 (GRCm39)	R485L	probably damaging	Het
Rps26	A	T	10: 128,461,087 (GRCm39)	F101I	unknown	Het
Sdsl	T	C	5: 120,598,702 (GRCm39)	N138S	probably benign	Het
Slc28a2b	C	A	2: 122,353,013 (GRCm39)	R453S	probably benign	Het
Slc39a6	A	T	18: 24,717,084 (GRCm39)	H649Q	probably damaging	Het
Snip1	T	A	4: 124,965,273 (GRCm39)	F226Y	probably benign	Het
Srrd	T	C	5: 112,485,322 (GRCm39)	T334A	unknown	Het
St14	C	T	9: 31,011,448 (GRCm39)	D448N	possibly damaging	Het
Tmem270	T	A	5: 134,930,538 (GRCm39)	Q241L	probably benign	Het
Tubb4b	T	C	2: 25,114,180 (GRCm39)	D41G	probably benign	Het
Usf3	T	C	16: 44,040,368 (GRCm39)	M1616T	possibly damaging	Het
Vmn2r95	A	T	17: 18,672,245 (GRCm39)	I733F	possibly damaging	Het
Zfp976	A	T	7: 42,262,684 (GRCm39)	C385*	probably null	Het

Other mutations in Bltp3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Bltp3b	APN	10	89,615,846 (GRCm39)	missense	probably damaging	1.00
IGL01102:Bltp3b	APN	10	89,627,240 (GRCm39)	missense	probably benign	0.00
IGL01457:Bltp3b	APN	10	89,641,624 (GRCm39)	missense	probably benign	0.06
IGL01647:Bltp3b	APN	10	89,609,982 (GRCm39)	critical splice donor site	probably null
IGL02552:Bltp3b	APN	10	89,642,605 (GRCm39)	nonsense	probably null
IGL02686:Bltp3b	APN	10	89,641,055 (GRCm39)	missense	probably benign
miscreant	UTSW	10	89,615,825 (GRCm39)	missense	probably damaging	0.97
scofflaw	UTSW	10	89,641,546 (GRCm39)	missense	probably benign	0.01
R0019:Bltp3b	UTSW	10	89,611,831 (GRCm39)	missense	probably damaging	1.00
R0505:Bltp3b	UTSW	10	89,627,305 (GRCm39)	missense	probably damaging	1.00
R0746:Bltp3b	UTSW	10	89,641,316 (GRCm39)	missense	probably benign	0.37
R1255:Bltp3b	UTSW	10	89,581,132 (GRCm39)	missense	probably damaging	0.98
R1385:Bltp3b	UTSW	10	89,626,503 (GRCm39)	missense	possibly damaging	0.92
R1720:Bltp3b	UTSW	10	89,618,448 (GRCm39)	missense	probably damaging	1.00
R2142:Bltp3b	UTSW	10	89,647,910 (GRCm39)	missense	probably damaging	1.00
R2312:Bltp3b	UTSW	10	89,616,995 (GRCm39)	missense	probably damaging	0.99
R2986:Bltp3b	UTSW	10	89,641,931 (GRCm39)	missense	probably benign	0.00
R4063:Bltp3b	UTSW	10	89,651,917 (GRCm39)	missense	probably benign	0.38
R4278:Bltp3b	UTSW	10	89,642,571 (GRCm39)	splice site	probably null
R4854:Bltp3b	UTSW	10	89,630,346 (GRCm39)	missense	probably damaging	1.00
R4857:Bltp3b	UTSW	10	89,615,825 (GRCm39)	missense	probably damaging	0.97
R5135:Bltp3b	UTSW	10	89,625,217 (GRCm39)	missense	probably damaging	1.00
R5467:Bltp3b	UTSW	10	89,640,961 (GRCm39)	missense	probably damaging	1.00
R5567:Bltp3b	UTSW	10	89,644,383 (GRCm39)	missense	probably benign	0.18
R5767:Bltp3b	UTSW	10	89,623,061 (GRCm39)	missense	possibly damaging	0.68
R6191:Bltp3b	UTSW	10	89,641,180 (GRCm39)	missense	possibly damaging	0.78
R6196:Bltp3b	UTSW	10	89,641,195 (GRCm39)	missense	probably benign	0.00
R6387:Bltp3b	UTSW	10	89,638,919 (GRCm39)	nonsense	probably null
R6729:Bltp3b	UTSW	10	89,641,546 (GRCm39)	missense	probably benign	0.01
R6746:Bltp3b	UTSW	10	89,623,020 (GRCm39)	missense	probably benign	0.19
R6794:Bltp3b	UTSW	10	89,641,624 (GRCm39)	missense	probably benign	0.06
R6892:Bltp3b	UTSW	10	89,640,985 (GRCm39)	missense	probably benign	0.02
R6990:Bltp3b	UTSW	10	89,641,979 (GRCm39)	missense	probably benign	0.12
R7188:Bltp3b	UTSW	10	89,615,744 (GRCm39)	missense	probably damaging	0.96
R7376:Bltp3b	UTSW	10	89,645,518 (GRCm39)	missense	probably damaging	1.00
R7836:Bltp3b	UTSW	10	89,651,968 (GRCm39)	missense	probably benign	0.00
R8188:Bltp3b	UTSW	10	89,647,928 (GRCm39)	missense	possibly damaging	0.50
R8343:Bltp3b	UTSW	10	89,627,281 (GRCm39)	missense	probably benign
R8356:Bltp3b	UTSW	10	89,647,954 (GRCm39)	missense	probably benign	0.00
R8367:Bltp3b	UTSW	10	89,641,239 (GRCm39)	missense	probably damaging	1.00
R8391:Bltp3b	UTSW	10	89,645,605 (GRCm39)	missense	possibly damaging	0.58
R8456:Bltp3b	UTSW	10	89,647,954 (GRCm39)	missense	probably benign	0.00
R8546:Bltp3b	UTSW	10	89,630,397 (GRCm39)	missense	probably damaging	1.00
R8728:Bltp3b	UTSW	10	89,618,582 (GRCm39)	missense	probably benign	0.00
R8816:Bltp3b	UTSW	10	89,626,597 (GRCm39)	critical splice donor site	probably benign
R9138:Bltp3b	UTSW	10	89,615,738 (GRCm39)	missense	probably damaging	1.00
R9220:Bltp3b	UTSW	10	89,626,457 (GRCm39)	missense	probably benign	0.29
R9649:Bltp3b	UTSW	10	89,626,593 (GRCm39)	missense	probably benign	0.32
R9701:Bltp3b	UTSW	10	89,615,755 (GRCm39)	missense	probably benign
R9720:Bltp3b	UTSW	10	89,641,219 (GRCm39)	missense	probably benign	0.22
R9802:Bltp3b	UTSW	10	89,615,755 (GRCm39)	missense	probably benign
X0060:Bltp3b	UTSW	10	89,641,241 (GRCm39)	missense	probably damaging	0.98
Z1177:Bltp3b	UTSW	10	89,647,934 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CCGTAATTTGACTCTGTTTGCTTAG -3'
(R):5'- TAGCTAAGCGGAAGGAACTGTC -3'

Sequencing Primer
(F):5'- GAGGTATTTAAACAAGGCTTTGCTTG -3'
(R):5'- TGTCCACAGCAGAAGCCG -3'

Posted On

2019-06-26