Mutagenetix > Incidental Mutation

Incidental Mutation 'R5695:Igfbpl1'

443867

Institutional Source

Beutler Lab

Gene Symbol

Igfbpl1

Ensembl Gene

ENSMUSG00000035551

Gene Name

insulin-like growth factor binding protein-like 1

Synonyms

2810011G06Rik, 2810453O06Rik, IGFBP-like protein

MMRRC Submission

043326-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5695 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45809507-45826827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45826374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 140 (D140E)

Ref Sequence

ENSEMBL: ENSMUSP00000036974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044297]

AlphaFold

Q80W15

Predicted Effect

probably damaging
Transcript: ENSMUST00000044297
AA Change: D140E

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

SMART Domains

Protein: ENSMUSP00000036974
Gene: ENSMUSG00000035551
AA Change: D140E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IB	28	100	1.31e-3	SMART
KAZAL	82	143	6.59e-14	SMART
IGc2	159	242	5.04e-9	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,660,745 (GRCm39)	H116L	probably damaging	Het
Anapc4	C	T	5: 53,019,581 (GRCm39)	S581L	probably benign	Het
Ano8	A	C	8: 71,935,887 (GRCm39)	D276E	probably damaging	Het
Aspm	G	A	1: 139,407,407 (GRCm39)	R2098H	probably benign	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Bpifb4	G	A	2: 153,784,843 (GRCm39)	G184S	probably damaging	Het
Cbx8	T	C	11: 118,930,137 (GRCm39)	D152G	probably benign	Het
Cdca2	A	G	14: 67,943,078 (GRCm39)		probably null	Het
Cgn	G	A	3: 94,680,945 (GRCm39)	A531V	probably benign	Het
Cmya5	C	A	13: 93,182,374 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,935,769 (GRCm39)	S365P	probably damaging	Het
Crnn	A	G	3: 93,056,330 (GRCm39)	Q372R	probably damaging	Het
Ehf	T	A	2: 103,097,124 (GRCm39)	E276V	probably damaging	Het
Eif4g3	T	A	4: 137,890,744 (GRCm39)		probably null	Het
Enpep	C	T	3: 129,102,748 (GRCm39)	D403N	probably damaging	Het
Enpp1	T	C	10: 24,530,806 (GRCm39)	E550G	probably damaging	Het
Entpd8	A	G	2: 24,974,346 (GRCm39)	D377G	probably benign	Het
Epc2	T	A	2: 49,437,619 (GRCm39)		probably null	Het
Erich3	G	T	3: 154,439,210 (GRCm39)	G481V	probably damaging	Het
Fank1	A	G	7: 133,471,075 (GRCm39)	Y156C	probably damaging	Het
Fras1	A	G	5: 96,929,203 (GRCm39)	D3869G	probably damaging	Het
Gcnt2	A	G	13: 41,071,675 (GRCm39)	D106G	probably benign	Het
Gm20830	A	T	Y: 6,916,501 (GRCm39)	V206E	probably benign	Het
Gmpr2	T	C	14: 55,914,691 (GRCm39)	V228A	possibly damaging	Het
Gon4l	TGAGCA	TGAGCAGAGCA	3: 88,803,523 (GRCm39)		probably null	Het
Gtpbp1	G	A	15: 79,596,375 (GRCm39)		probably null	Het
Hhat	A	T	1: 192,399,327 (GRCm39)	M271K	probably damaging	Het
Hipk2	A	T	6: 38,795,810 (GRCm39)	M153K	possibly damaging	Het
Hydin	A	T	8: 111,261,915 (GRCm39)	H2672L	probably benign	Het
Kctd1	T	G	18: 15,196,573 (GRCm39)		probably benign	Het
Lax1	A	T	1: 133,608,316 (GRCm39)	Y142N	probably damaging	Het
Lpin2	C	T	17: 71,551,798 (GRCm39)	R733C	probably damaging	Het
Morn4	A	G	19: 42,064,556 (GRCm39)	L144P	possibly damaging	Het
Nup214	C	A	2: 31,924,385 (GRCm39)	T1638K	probably damaging	Het
Nyap1	C	T	5: 137,733,246 (GRCm39)	A596T	probably damaging	Het
Oas1d	T	C	5: 121,053,074 (GRCm39)	M43T	probably benign	Het
Or4l15	T	C	14: 50,198,080 (GRCm39)	T150A	probably benign	Het
Or6x1	T	C	9: 40,098,897 (GRCm39)	V162A	probably benign	Het
Or8b42	A	G	9: 38,342,472 (GRCm39)	H298R	probably benign	Het
Pacs1	A	G	19: 5,186,819 (GRCm39)	F851S	probably damaging	Het
Pcdh17	A	G	14: 84,683,800 (GRCm39)	Q89R	probably damaging	Het
Phrf1	A	G	7: 140,838,378 (GRCm39)		probably benign	Het
Plekhb1	A	T	7: 100,304,602 (GRCm39)	I34N	probably damaging	Het
Ralgapa2	T	C	2: 146,175,397 (GRCm39)	E1800G	probably damaging	Het
Rbm33	A	T	5: 28,544,010 (GRCm39)	I89F	probably damaging	Het
Rtl1	T	A	12: 109,560,531 (GRCm39)	E436V	probably damaging	Het
Slc2a4	G	T	11: 69,837,217 (GRCm39)	P73Q	probably damaging	Het
Sorbs2	A	T	8: 46,245,912 (GRCm39)	T311S	probably benign	Het
Sulf2	G	A	2: 165,974,678 (GRCm39)	A2V	probably benign	Het
Supt16	A	T	14: 52,411,601 (GRCm39)		probably null	Het
Vmn1r26	A	T	6: 57,985,738 (GRCm39)	N150K	probably damaging	Het
Vmn2r39	T	A	7: 9,028,150 (GRCm39)	H407L	possibly damaging	Het
Vmn2r84	T	A	10: 130,225,064 (GRCm39)	Y482F	probably benign	Het
Vps9d1	T	C	8: 123,973,655 (GRCm39)	E376G	probably benign	Het
Wrn	C	A	8: 33,814,346 (GRCm39)	G366V	probably benign	Het

Other mutations in Igfbpl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Igfbpl1	APN	4	45,826,478 (GRCm39)	missense	probably damaging	0.99
IGL03339:Igfbpl1	APN	4	45,813,555 (GRCm39)	splice site	probably benign
PIT1430001:Igfbpl1	UTSW	4	45,826,756 (GRCm39)	missense	unknown
PIT4504001:Igfbpl1	UTSW	4	45,813,469 (GRCm39)	missense	possibly damaging	0.86
R1824:Igfbpl1	UTSW	4	45,826,406 (GRCm39)	missense	probably benign	0.19
R2655:Igfbpl1	UTSW	4	45,816,289 (GRCm39)	missense	probably damaging	0.96
R3850:Igfbpl1	UTSW	4	45,826,426 (GRCm39)	missense	probably benign	0.02
R5431:Igfbpl1	UTSW	4	45,815,588 (GRCm39)	missense	probably benign	0.21
R6229:Igfbpl1	UTSW	4	45,813,517 (GRCm39)	missense	probably damaging	1.00
R6613:Igfbpl1	UTSW	4	45,813,447 (GRCm39)	missense	probably benign	0.00
R6950:Igfbpl1	UTSW	4	45,815,494 (GRCm39)	missense	probably damaging	1.00
R6954:Igfbpl1	UTSW	4	45,826,663 (GRCm39)	missense	probably damaging	1.00
R6971:Igfbpl1	UTSW	4	45,816,333 (GRCm39)	missense	possibly damaging	0.72
R7558:Igfbpl1	UTSW	4	45,813,497 (GRCm39)	missense	probably damaging	1.00
R7976:Igfbpl1	UTSW	4	45,826,786 (GRCm39)	missense	unknown
R8675:Igfbpl1	UTSW	4	45,813,469 (GRCm39)	missense	possibly damaging	0.86
R9354:Igfbpl1	UTSW	4	45,816,348 (GRCm39)	missense	probably damaging	1.00
R9394:Igfbpl1	UTSW	4	45,826,792 (GRCm39)	start codon destroyed	probably null
R9598:Igfbpl1	UTSW	4	45,815,472 (GRCm39)	missense	probably null	0.98

Predicted Primers

PCR Primer
(F):5'- CTAGGGCTGAAGTCTGCACG -3'
(R):5'- AGTTCAGTGAGCCAGTAGGG -3'

Sequencing Primer
(F):5'- CGCAGTGGGTAAGGTAGC -3'
(R):5'- CTTTGCACGCACCGAGC -3'

Posted On

2016-11-09