Mutagenetix > Incidental Mutation

Incidental Mutation 'R3850:Igfbpl1'

275862

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

040898-MU

Accession Numbers

Essential gene?

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

Stock #

R3850 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

45809507-45826827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45826426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 123 (R123H)

Ref Sequence

ENSEMBL: ENSMUSP00000036974 (fasta)

Gene Model

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

AlphaFold

Q80W15

Predicted Effect

probably benign
Transcript: ENSMUST00000044297
AA Change: R123H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000036974
Gene: ENSMUSG00000035551
AA Change: R123H

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

0.1770

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,061,481 (GRCm39)		probably benign	Het
Abcc5	A	T	16: 20,190,906 (GRCm39)	S815T	probably benign	Het
Adamts17	T	A	7: 66,490,215 (GRCm39)	L99Q	possibly damaging	Het
Adamtsl1	A	T	4: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Als2cl	A	G	9: 110,718,377 (GRCm39)		probably benign	Het
Antxrl	C	A	14: 33,789,338 (GRCm39)	H309Q	probably benign	Het
Ap1g2	T	C	14: 55,342,363 (GRCm39)	M165V	probably benign	Het
Cacna2d3	A	G	14: 29,069,077 (GRCm39)		probably null	Het
Cdh16	T	C	8: 105,344,473 (GRCm39)	D22G	possibly damaging	Het
Cdh17	A	G	4: 11,785,201 (GRCm39)	D331G	probably damaging	Het
Csmd1	C	G	8: 16,129,936 (GRCm39)	V1729L	probably benign	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Cwf19l1	T	C	19: 44,119,937 (GRCm39)	Y68C	probably benign	Het
Dst	C	T	1: 34,228,355 (GRCm39)	Q1658*	probably null	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Fan1	T	C	7: 64,022,119 (GRCm39)	Y378C	probably damaging	Het
Fat4	T	A	3: 39,061,410 (GRCm39)	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,993,781 (GRCm39)	S46P	probably benign	Het
Golgb1	C	A	16: 36,719,095 (GRCm39)	Q334K	probably benign	Het
Hoxc10	T	C	15: 102,875,879 (GRCm39)	V196A	probably benign	Het
Hsf4	T	C	8: 105,997,469 (GRCm39)	F101L	probably damaging	Het
Hydin	T	C	8: 111,290,561 (GRCm39)	I3340T	probably damaging	Het
Mov10l1	A	T	15: 88,889,898 (GRCm39)		probably null	Het
Mrc2	T	C	11: 105,183,729 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,416,375 (GRCm39)	C3107Y	possibly damaging	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Nfasc	T	C	1: 132,559,471 (GRCm39)	T214A	probably damaging	Het
Or4a72	T	C	2: 89,405,378 (GRCm39)	R231G	probably damaging	Het
Or5aq1b	T	A	2: 86,902,310 (GRCm39)	H56L	possibly damaging	Het
Or7d10	A	T	9: 19,832,105 (GRCm39)	Y200F	probably damaging	Het
Pcdhga10	C	T	18: 37,882,074 (GRCm39)	P612S	probably damaging	Het
Picalm	A	G	7: 89,840,912 (GRCm39)	N456S	probably damaging	Het
Pigo	A	G	4: 43,025,084 (GRCm39)	F5S	probably benign	Het
Pikfyve	T	C	1: 65,270,004 (GRCm39)	F563S	probably damaging	Het
Plod2	A	G	9: 92,424,598 (GRCm39)	E29G	probably benign	Het
Pm20d2	A	G	4: 33,174,414 (GRCm39)	V403A	probably damaging	Het
Proz	A	G	8: 13,123,533 (GRCm39)	E268G	probably benign	Het
Rb1cc1	T	A	1: 6,320,337 (GRCm39)	V1252D	probably benign	Het
Rimbp3	A	T	16: 17,028,163 (GRCm39)	H529L	probably benign	Het
Rmdn3	A	T	2: 118,986,903 (GRCm39)	H41Q	possibly damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Ror1	A	G	4: 100,299,357 (GRCm39)	Y910C	possibly damaging	Het
Scn2a	C	T	2: 65,512,375 (GRCm39)	L171F	probably benign	Het
Sh3pxd2b	A	G	11: 32,361,505 (GRCm39)	E239G	probably damaging	Het
Smim33	G	A	18: 35,861,767 (GRCm39)	V84I	probably benign	Het
Snx27	G	T	3: 94,427,542 (GRCm39)	T311K	probably benign	Het
Sspo	T	A	6: 48,469,424 (GRCm39)	L4459Q	probably damaging	Het
Syne2	T	C	12: 76,095,396 (GRCm39)	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,845,638 (GRCm39)	I223N	probably damaging	Het
Tead2	T	A	7: 44,881,752 (GRCm39)		probably null	Het
Thap12	G	T	7: 98,365,870 (GRCm39)	K679N	probably damaging	Het
Vmn2r65	T	A	7: 84,595,859 (GRCm39)	H275L	probably benign	Het
Wfs1	C	A	5: 37,125,968 (GRCm39)	V308L	probably benign	Het
Zfp229	C	A	17: 21,964,843 (GRCm39)	H358N	probably damaging	Het
Zfp687	T	C	3: 94,915,225 (GRCm39)	D1092G	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
R2655:Igfbpl1	UTSW	4	45,816,289 (GRCm39)	missense	probably damaging	0.96
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'- CTGTGTTGTCCACTTTTGTACAATG -3'
(R):5'- TCTCTGCAGTTCAGTGAGCC -3'

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

Posted On

2015-04-06