Mutagenetix > Incidental Mutation

Incidental Mutation 'R5654:Igfals'

442203

Institutional Source

Beutler Lab

Gene Symbol

Igfals

Ensembl Gene

ENSMUSG00000046070

Gene Name

insulin-like growth factor binding protein, acid labile subunit

Synonyms

Albs, ALS

MMRRC Submission

043300-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25096818-25100985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25100439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 510 (Y510F)

Ref Sequence

ENSEMBL: ENSMUSP00000060169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044252] [ENSMUST00000050714]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044252

SMART Domains

Protein: ENSMUSP00000049319
Gene: ENSMUSG00000039183

Domain	Start	End	E-Value	Type
Pfam:ParA	16	267	3.2e-99	PFAM
Pfam:ArsA_ATPase	19	66	1.7e-8	PFAM
Pfam:AAA_31	19	79	1.5e-8	PFAM
Pfam:MipZ	19	155	2.1e-10	PFAM
Pfam:CbiA	21	199	2.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050714
AA Change: Y510F

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000060169
Gene: ENSMUSG00000046070
AA Change: Y510F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LRRNT	40	78	9.37e-10	SMART
LRR	77	96	1.62e1	SMART
LRR	97	120	1.41e1	SMART
LRR_TYP	121	144	6.78e-3	SMART
LRR	145	168	1.03e1	SMART
LRR_TYP	169	192	1.1e-2	SMART
LRR	193	216	2.17e-1	SMART
LRR_TYP	217	240	2.4e-3	SMART
LRR_TYP	241	264	1.82e-3	SMART
LRR	265	288	5.72e-1	SMART
LRR_TYP	289	312	6.23e-2	SMART
LRR_TYP	313	336	6.32e-3	SMART
LRR_TYP	337	360	2.2e-2	SMART
LRR	361	384	1.89e-1	SMART
LRR	385	408	3.87e1	SMART
LRR	409	432	2.67e-1	SMART
LRR_TYP	433	456	1.06e-4	SMART
LRR_TYP	457	480	6.78e-3	SMART
LRR	481	504	1.09e2	SMART
LRR	505	530	2.68e1	SMART
LRRCT	535	582	5.11e-8	SMART

Meta Mutation Damage Score

0.0731

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene gain weight more slowly after birth and display less growth in long bones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	T	C	1: 75,151,479 (GRCm39)		probably null	Het
Abcc9	G	A	6: 142,571,371 (GRCm39)		probably benign	Het
Acss2	T	C	2: 155,416,575 (GRCm39)		probably benign	Het
Atp8b4	G	A	2: 126,217,725 (GRCm39)	T597I	probably damaging	Het
Btaf1	A	T	19: 36,961,015 (GRCm39)	N796I	probably benign	Het
Caskin2	T	C	11: 115,690,905 (GRCm39)		probably null	Het
Cdhr2	A	G	13: 54,884,349 (GRCm39)	N1295D	probably benign	Het
Cog3	G	A	14: 75,962,239 (GRCm39)	T534M	probably benign	Het
Cpne1	A	G	2: 155,919,561 (GRCm39)	S303P	probably damaging	Het
Cs	G	A	10: 128,187,086 (GRCm39)	G74S	possibly damaging	Het
Cyb5r4	G	T	9: 86,929,533 (GRCm39)	S229I	probably damaging	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Ect2l	C	T	10: 18,018,810 (GRCm39)	V529M	probably damaging	Het
Edaradd	C	A	13: 12,493,161 (GRCm39)	R177L	possibly damaging	Het
Esf1	T	C	2: 140,006,148 (GRCm39)	D333G	possibly damaging	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fbxl18	A	G	5: 142,871,558 (GRCm39)	I559T	probably damaging	Het
Fcrl2	A	C	3: 87,164,851 (GRCm39)	V225G	probably benign	Het
Ido1	C	T	8: 25,077,819 (GRCm39)	V83M	probably damaging	Het
Iffo1	T	G	6: 125,130,030 (GRCm39)	C419G	probably damaging	Het
Ipo9	A	T	1: 135,313,210 (GRCm39)	Y1006*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jmjd1c	T	A	10: 67,065,785 (GRCm39)	S1737T	probably benign	Het
Klhl32	C	T	4: 24,800,805 (GRCm39)		probably null	Het
Klk1b11	T	A	7: 43,427,810 (GRCm39)	C173S	probably damaging	Het
Klk1b24	A	T	7: 43,840,889 (GRCm39)	M106L	probably benign	Het
Lamp1	G	A	8: 13,221,388 (GRCm39)		probably null	Het
Mapk4	A	T	18: 74,103,365 (GRCm39)	V48E	probably damaging	Het
Marchf6	A	T	15: 31,486,082 (GRCm39)	D395E	probably damaging	Het
Mdp1	A	G	14: 55,896,465 (GRCm39)	F157S	probably damaging	Het
Mettl21e	A	T	1: 44,250,255 (GRCm39)	F50L	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,153 (GRCm39)	I35T	probably benign	Het
Natd1	T	C	11: 60,796,892 (GRCm39)	Y91C	probably damaging	Het
Nbas	T	A	12: 13,633,476 (GRCm39)	Y2294N	probably damaging	Het
Nrcam	A	G	12: 44,610,841 (GRCm39)	T520A	probably benign	Het
Nrf1	A	G	6: 30,117,061 (GRCm39)	T324A	probably benign	Het
Or10a2	G	A	7: 106,673,394 (GRCm39)	A120T	probably damaging	Het
Or4k51	T	A	2: 111,585,326 (GRCm39)	I244N	probably damaging	Het
Or52a5	A	C	7: 103,427,182 (GRCm39)	D123E	probably damaging	Het
Or5m11b	A	G	2: 85,806,500 (GRCm39)	I304M	probably benign	Het
Pam	C	T	1: 97,792,123 (GRCm39)	V433I	probably benign	Het
Pck1	T	A	2: 173,000,353 (GRCm39)	Y595N	probably damaging	Het
Per2	C	T	1: 91,373,223 (GRCm39)		probably null	Het
Piezo2	G	C	18: 63,278,162 (GRCm39)	F247L	possibly damaging	Het
Pkdcc	A	G	17: 83,523,337 (GRCm39)	Y148C	probably damaging	Het
Plod2	A	G	9: 92,475,876 (GRCm39)	T320A	probably benign	Het
Ppip5k1	G	A	2: 121,147,157 (GRCm39)	R1155C	probably benign	Het
Ppp1r15b	C	T	1: 133,059,382 (GRCm39)		probably benign	Het
Prkn	C	T	17: 11,456,536 (GRCm39)	A119V	probably damaging	Het
Ptprz1	G	T	6: 22,986,133 (GRCm39)	C311F	probably damaging	Het
Rab11fip3	A	T	17: 26,235,038 (GRCm39)	V44E	probably damaging	Het
Rpl5	T	A	5: 108,051,514 (GRCm39)		probably benign	Het
Rttn	G	A	18: 89,066,556 (GRCm39)	V1201I	probably benign	Het
Sdk1	A	G	5: 141,921,853 (GRCm39)	N283S	probably damaging	Het
Shank3	T	A	15: 89,405,529 (GRCm39)	N418K	probably benign	Het
Shmt2	T	C	10: 127,353,668 (GRCm39)	D499G	probably benign	Het
Slc25a46	A	G	18: 31,716,293 (GRCm39)	L403S	probably damaging	Het
Slc5a1	A	G	5: 33,303,955 (GRCm39)	T257A	probably benign	Het
Snrnp35	T	C	5: 124,628,535 (GRCm39)	V116A	probably benign	Het
Spag9	T	A	11: 93,981,538 (GRCm39)	F593I	probably damaging	Het
Tmem171	C	A	13: 98,828,574 (GRCm39)	R192L	probably benign	Het
Trappc3l	T	A	10: 33,978,703 (GRCm39)	L169Q	unknown	Het
Ube2s	T	C	7: 4,811,431 (GRCm39)	E148G	probably damaging	Het
Uspl1	T	C	5: 149,146,521 (GRCm39)	F424S	probably damaging	Het
Vmn1r2	T	C	4: 3,172,261 (GRCm39)	V60A	probably benign	Het
Wdfy4	T	C	14: 32,829,575 (GRCm39)		probably null	Het
Zfp735	C	T	11: 73,602,964 (GRCm39)	S636L	possibly damaging	Het
Zswim9	G	A	7: 12,995,094 (GRCm39)	S354F	probably damaging	Het

Other mutations in Igfals

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Igfals	APN	17	25,100,634 (GRCm39)	missense	probably benign	0.08
IGL01796:Igfals	APN	17	25,099,056 (GRCm39)	missense	probably damaging	0.96
IGL02448:Igfals	APN	17	25,099,161 (GRCm39)	missense	probably damaging	1.00
R1022:Igfals	UTSW	17	25,099,457 (GRCm39)	missense	probably damaging	0.99
R1024:Igfals	UTSW	17	25,099,457 (GRCm39)	missense	probably damaging	0.99
R1127:Igfals	UTSW	17	25,099,455 (GRCm39)	missense	probably damaging	1.00
R1653:Igfals	UTSW	17	25,100,052 (GRCm39)	missense	probably benign	0.00
R1827:Igfals	UTSW	17	25,099,278 (GRCm39)	missense	probably benign	0.20
R3872:Igfals	UTSW	17	25,100,579 (GRCm39)	missense	possibly damaging	0.88
R3873:Igfals	UTSW	17	25,100,579 (GRCm39)	missense	possibly damaging	0.88
R3874:Igfals	UTSW	17	25,100,579 (GRCm39)	missense	possibly damaging	0.88
R4278:Igfals	UTSW	17	25,100,191 (GRCm39)	missense	probably benign	0.01
R5360:Igfals	UTSW	17	25,099,067 (GRCm39)	missense	probably benign	0.00
R5417:Igfals	UTSW	17	25,099,290 (GRCm39)	missense	probably damaging	1.00
R6261:Igfals	UTSW	17	25,100,339 (GRCm39)	missense	possibly damaging	0.88
R7061:Igfals	UTSW	17	25,099,281 (GRCm39)	missense	probably damaging	1.00
R7223:Igfals	UTSW	17	25,100,208 (GRCm39)	missense	probably damaging	1.00
R7484:Igfals	UTSW	17	25,098,962 (GRCm39)	missense	possibly damaging	0.95
R7699:Igfals	UTSW	17	25,099,548 (GRCm39)	missense	probably damaging	1.00
R7700:Igfals	UTSW	17	25,099,548 (GRCm39)	missense	probably damaging	1.00
R8197:Igfals	UTSW	17	25,099,278 (GRCm39)	missense	probably benign	0.01
R8707:Igfals	UTSW	17	25,099,185 (GRCm39)	missense	possibly damaging	0.88
R8900:Igfals	UTSW	17	25,099,014 (GRCm39)	missense	possibly damaging	0.86
R9071:Igfals	UTSW	17	25,099,670 (GRCm39)	missense	probably damaging	0.99
R9389:Igfals	UTSW	17	25,100,600 (GRCm39)	missense	probably benign	0.04
R9655:Igfals	UTSW	17	25,099,665 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTGGAACTCGATCTTACCG -3'
(R):5'- GTCATCTCCCTCACAGACAGTC -3'

Sequencing Primer
(F):5'- TGGAACTCGATCTTACCGCCAAC -3'
(R):5'- TCTGAACAAAGCGGGGGAC -3'

Posted On

2016-11-09