Mutagenetix > Incidental Mutation

Incidental Mutation 'R2655:Igfbpl1'

252638

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

040430-MU

Accession Numbers

Essential gene?

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

Stock #

R2655 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45809507-45826827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45816289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 179 (T179A)

Ref Sequence

ENSEMBL: ENSMUSP00000036974 (fasta)

Gene Model

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

AlphaFold

Q80W15

Predicted Effect

probably damaging
Transcript: ENSMUST00000044297
AA Change: T179A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036974
Gene: ENSMUSG00000035551
AA Change: T179A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145102

Meta Mutation Damage Score

0.1939

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	A	12: 84,122,650 (GRCm39)	S411R	probably benign	Het
Adamts12	A	T	15: 11,065,174 (GRCm39)	N20Y	possibly damaging	Het
Bbs9	G	A	9: 22,415,348 (GRCm39)	E91K	probably damaging	Het
Casp4	C	A	9: 5,322,894 (GRCm39)	L57I	possibly damaging	Het
Cat	T	C	2: 103,302,191 (GRCm39)	K169E	probably damaging	Het
Cav1	A	G	6: 17,339,359 (GRCm39)	Y148C	probably damaging	Het
Cep112	T	C	11: 108,328,027 (GRCm39)		probably benign	Het
Chaf1b	T	C	16: 93,688,399 (GRCm39)	S165P	probably damaging	Het
Crat	A	G	2: 30,292,703 (GRCm39)	S115P	probably damaging	Het
Eif2b1	A	G	5: 124,714,917 (GRCm39)	S120P	probably damaging	Het
Epor	A	G	9: 21,872,016 (GRCm39)	S236P	probably damaging	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Ighv14-4	T	G	12: 114,140,068 (GRCm39)	Y114S	probably damaging	Het
Ipcef1	T	C	10: 6,929,657 (GRCm39)	I29V	probably benign	Het
Junb	A	G	8: 85,704,137 (GRCm39)	S308P	probably damaging	Het
Kcnh5	T	C	12: 75,161,314 (GRCm39)	E198G	probably damaging	Het
Ltbp1	G	A	17: 75,312,978 (GRCm39)	R33H	possibly damaging	Het
Map3k20	C	A	2: 72,263,764 (GRCm39)	T471K	probably damaging	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Odad4	T	A	11: 100,444,405 (GRCm39)	W237R	probably damaging	Het
Or51a10	T	C	7: 103,698,638 (GRCm39)	M308V	probably benign	Het
Or8g35	A	T	9: 39,381,924 (GRCm39)	S33T	probably benign	Het
Patj	T	C	4: 98,325,687 (GRCm39)	V508A	possibly damaging	Het
Pkd1	T	C	17: 24,795,464 (GRCm39)	V2319A	probably damaging	Het
Pnpla7	A	G	2: 24,942,330 (GRCm39)	Y83C	probably damaging	Het
Prb1a	G	C	6: 132,187,425 (GRCm39)	Q19E	unknown	Het
Rasa3	T	C	8: 13,645,373 (GRCm39)	T189A	possibly damaging	Het
Reck	T	A	4: 43,938,966 (GRCm39)	D777E	probably benign	Het
Rfx6	A	G	10: 51,569,873 (GRCm39)		probably benign	Het
Serpinb13	A	G	1: 106,928,157 (GRCm39)	D259G	probably damaging	Het
Slit2	G	A	5: 48,346,917 (GRCm39)	R253Q	possibly damaging	Het
Slu7	A	G	11: 43,331,475 (GRCm39)	E203G	probably benign	Het
Syt4	A	T	18: 31,576,597 (GRCm39)	D252E	probably benign	Het
Tpte	A	G	8: 22,801,294 (GRCm39)		probably null	Het
Ttll7	A	G	3: 146,653,376 (GRCm39)	Y729C	probably damaging	Het
Usp35	T	A	7: 96,961,354 (GRCm39)	T691S	probably benign	Het
Vmn1r211	A	G	13: 23,036,586 (GRCm39)	V27A	probably benign	Het
Vmn2r72	T	C	7: 85,400,477 (GRCm39)	T191A	possibly damaging	Het
Vwa5b1	C	T	4: 138,321,614 (GRCm39)	G393D	probably damaging	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
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
R5695:Igfbpl1	UTSW	4	45,826,374 (GRCm39)	missense	probably damaging	1.00
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'- GTTTTGAGACACAGCGCTGG -3'
(R):5'- TGACCACTGGAAATGGCTTTTC -3'

Sequencing Primer
(F):5'- TTTGAGACACAGCGCTGGAGTATC -3'
(R):5'- TCCATTATCATCAAGGTGGGAGC -3'

Posted On

2014-12-04