Mutagenetix > Incidental Mutation

Incidental Mutation 'R0639:Igfbp7'

56900

Institutional Source

Beutler Lab

Gene Symbol

Igfbp7

Ensembl Gene

ENSMUSG00000036256

Gene Name

insulin-like growth factor binding protein 7

Synonyms

AGM, Fstl2, mac25

MMRRC Submission

038828-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0639 (G1)

Quality Score

189

Status

Not validated

Chromosome

Chromosomal Location

77497092-77555892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77499827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 243 (D243G)

Ref Sequence

ENSEMBL: ENSMUSP00000128318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031167] [ENSMUST00000046746] [ENSMUST00000163898]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031167

SMART Domains

Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
Pfam:RNA_pol_Rpb2_1	38	442	2.5e-69	PFAM
Pfam:RNA_pol_Rpb2_2	201	394	3.7e-57	PFAM
Pfam:RNA_pol_Rpb2_3	468	532	6.1e-25	PFAM
Pfam:RNA_pol_Rpb2_4	567	629	7.4e-27	PFAM
Pfam:RNA_pol_Rpb2_5	653	700	1.6e-22	PFAM
Pfam:RNA_pol_Rpb2_6	707	1080	4.5e-129	PFAM
Pfam:RNA_pol_Rpb2_7	1082	1174	3.3e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000046746
AA Change: D212G

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

SMART Domains

Protein: ENSMUSP00000045057
Gene: ENSMUSG00000036256
AA Change: D212G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IB	30	113	9.23e-19	SMART
KAZAL	110	156	6.39e-12	SMART
IG	166	266	5.53e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163898
AA Change: D243G

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

SMART Domains

Protein: ENSMUSP00000128318
Gene: ENSMUSG00000036256
AA Change: D243G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IB	30	113	9.23e-19	SMART
KAZAL	110	156	6.39e-12	SMART
IG	197	297	5.53e-6	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit retarded mammary gland developmental in virgin and adult females, reduced mammary gland size and alveolar density during pregnancy, precocious involution in lactating mammary glands, and abnormal milk composition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	C	T	17: 46,043,999 (GRCm39)	W86*	probably null	Het
Acadl	T	C	1: 66,896,567 (GRCm39)	H75R	probably benign	Het
Adamtsl1	T	C	4: 86,195,380 (GRCm39)	F599S	probably damaging	Het
Adrb3	T	C	8: 27,718,293 (GRCm39)	N52S	probably damaging	Het
Agbl3	T	A	6: 34,776,640 (GRCm39)	L377Q	probably damaging	Het
Akap9	T	C	5: 4,110,318 (GRCm39)	L3007P	probably damaging	Het
Amer3	T	A	1: 34,626,902 (GRCm39)	Y380*	probably null	Het
Ankrd13d	A	T	19: 4,323,047 (GRCm39)		probably null	Het
Ap4m1	T	A	5: 138,174,501 (GRCm39)	C235S	probably benign	Het
Arhgap29	T	C	3: 121,801,290 (GRCm39)	F675S	probably damaging	Het
Asah2	C	A	19: 31,986,039 (GRCm39)	V544F	probably damaging	Het
Ash2l	A	G	8: 26,313,319 (GRCm39)	I389T	possibly damaging	Het
Bend5	T	C	4: 111,290,495 (GRCm39)	S164P	probably benign	Het
Cacna1d	A	G	14: 29,893,251 (GRCm39)		probably null	Het
Cdc25b	A	G	2: 131,039,182 (GRCm39)	N516D	probably benign	Het
Cdc27	A	G	11: 104,422,560 (GRCm39)	Y125H	probably damaging	Het
Cdk5r2	C	T	1: 74,894,995 (GRCm39)	L247F	probably damaging	Het
Cenpf	C	A	1: 189,390,259 (GRCm39)	G1191V	probably benign	Het
Cops4	C	T	5: 100,685,326 (GRCm39)	T293I	possibly damaging	Het
Csmd3	A	G	15: 47,777,336 (GRCm39)	L1294P	probably damaging	Het
Dclre1a	T	C	19: 56,526,872 (GRCm39)	Y848C	probably damaging	Het
Disp2	A	T	2: 118,621,325 (GRCm39)	I686F	possibly damaging	Het
Dnah6	T	A	6: 72,999,395 (GRCm39)	Y4012F	probably benign	Het
Dnajc11	C	G	4: 152,054,393 (GRCm39)	R200G	probably damaging	Het
Dnhd1	A	T	7: 105,345,671 (GRCm39)	D2272V	possibly damaging	Het
Elane	A	C	10: 79,722,183 (GRCm39)	R5S	possibly damaging	Het
Entpd7	G	A	19: 43,679,533 (GRCm39)	V29M	probably benign	Het
Fanca	A	G	8: 124,016,098 (GRCm39)		probably null	Het
Fgl1	G	T	8: 41,644,661 (GRCm39)	T281K	probably benign	Het
Flii	T	C	11: 60,613,823 (GRCm39)		probably null	Het
Foxn1	T	C	11: 78,261,970 (GRCm39)	D133G	possibly damaging	Het
Fzd7	T	A	1: 59,523,719 (GRCm39)	M534K	probably damaging	Het
Galnt5	A	G	2: 57,889,407 (GRCm39)	T336A	probably benign	Het
Gli3	G	A	13: 15,899,300 (GRCm39)	D896N	probably damaging	Het
Gsx1	G	T	5: 147,126,756 (GRCm39)	W193L	probably damaging	Het
Gtpbp3	A	T	8: 71,945,379 (GRCm39)	I485F	probably damaging	Het
H2-M11	A	G	17: 36,858,283 (GRCm39)	T26A	probably benign	Het
Il31ra	A	T	13: 112,662,377 (GRCm39)	D477E	possibly damaging	Het
Inmt	A	C	6: 55,148,212 (GRCm39)	V139G	probably damaging	Het
Inpp5j	T	A	11: 3,451,147 (GRCm39)	M501L	probably benign	Het
Itsn2	T	C	12: 4,762,556 (GRCm39)	F1579L	probably damaging	Het
Kat2b	C	A	17: 53,874,566 (GRCm39)	A70E	probably benign	Het
Klhl20	T	C	1: 160,921,281 (GRCm39)	E58G	probably damaging	Het
Krt79	A	T	15: 101,839,983 (GRCm39)	Y337*	probably null	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Letm1	T	C	5: 33,926,770 (GRCm39)	I176V	possibly damaging	Het
Lingo3	C	A	10: 80,671,618 (GRCm39)	R104L	probably benign	Het
Lrig3	T	G	10: 125,846,090 (GRCm39)	C840G	probably damaging	Het
Lrrc9	A	G	12: 72,533,062 (GRCm39)	N977S	probably damaging	Het
Lrrk2	T	A	15: 91,657,199 (GRCm39)	M1831K	probably benign	Het
Mn1	A	T	5: 111,567,182 (GRCm39)	D384V	probably damaging	Het
Morc3	C	A	16: 93,650,738 (GRCm39)	H319Q	probably damaging	Het
Morn1	T	C	4: 155,173,960 (GRCm39)	F56L	possibly damaging	Het
Mrpl53	G	T	6: 83,086,392 (GRCm39)	V64L	probably damaging	Het
Myo15a	T	A	11: 60,370,162 (GRCm39)	V974D	probably benign	Het
Neb	A	G	2: 52,146,136 (GRCm39)	V2947A	possibly damaging	Het
Nfasc	A	C	1: 132,531,554 (GRCm39)	N737K	probably damaging	Het
Nlk	T	C	11: 78,463,103 (GRCm39)	D464G	possibly damaging	Het
Nlrc4	C	T	17: 74,733,958 (GRCm39)	R985K	probably benign	Het
Nsun6	T	C	2: 15,001,147 (GRCm39)	K470E	probably benign	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Or8b39	G	A	9: 37,996,666 (GRCm39)	C178Y	probably damaging	Het
Otop1	T	C	5: 38,445,292 (GRCm39)	V150A	possibly damaging	Het
Pclo	C	T	5: 14,731,763 (GRCm39)	R296*	probably null	Het
Pdzd2	A	T	15: 12,458,144 (GRCm39)	C240S	possibly damaging	Het
Plekhg5	A	G	4: 152,198,577 (GRCm39)	T922A	probably benign	Het
Plekhm2	A	C	4: 141,369,381 (GRCm39)	L101R	probably damaging	Het
Plscr3	T	A	11: 69,738,820 (GRCm39)	C161S	probably benign	Het
Prr14l	C	T	5: 32,986,259 (GRCm39)	D1079N	probably benign	Het
Ptpru	A	T	4: 131,498,490 (GRCm39)	V1377E	possibly damaging	Het
Rab37	C	A	11: 115,049,528 (GRCm39)	D112E	probably benign	Het
Raet1e	T	A	10: 22,050,274 (GRCm39)	I19N	probably damaging	Het
Rassf5	T	C	1: 131,172,803 (GRCm39)	Y22C	probably damaging	Het
Rp1	T	C	1: 4,416,721 (GRCm39)	T1464A	probably benign	Het
Safb	T	A	17: 56,908,092 (GRCm39)		probably benign	Het
Scarf2	A	G	16: 17,624,369 (GRCm39)		probably null	Het
Scart2	A	G	7: 139,827,872 (GRCm39)	N27D	probably benign	Het
Sh3d19	T	C	3: 86,014,280 (GRCm39)	S415P	probably benign	Het
Slc26a9	T	A	1: 131,691,542 (GRCm39)	L595Q	probably damaging	Het
Slc4a8	T	C	15: 100,694,431 (GRCm39)	Y470H	probably damaging	Het
Slitrk3	T	C	3: 72,956,982 (GRCm39)	N597D	probably benign	Het
Spata31	T	A	13: 65,070,027 (GRCm39)	V725E	probably benign	Het
Spink12	T	A	18: 44,240,831 (GRCm39)	C72*	probably null	Het
Spink5	T	A	18: 44,146,042 (GRCm39)		probably null	Het
Stk40	C	A	4: 126,012,125 (GRCm39)	S9*	probably null	Het
Sypl1	A	T	12: 33,015,420 (GRCm39)	T40S	probably damaging	Het
Tbc1d8	C	T	1: 39,430,290 (GRCm39)	E438K	probably benign	Het
Tdrd7	A	G	4: 45,989,102 (GRCm39)	T111A	probably benign	Het
Tg	A	T	15: 66,613,333 (GRCm39)		probably null	Het
Tlr5	T	A	1: 182,801,454 (GRCm39)	W253R	probably damaging	Het
Tmprss11c	C	T	5: 86,383,328 (GRCm39)	C353Y	probably damaging	Het
Tnfrsf8	T	A	4: 145,014,597 (GRCm39)	M271L	probably benign	Het
Toe1	T	C	4: 116,663,947 (GRCm39)	N21S	probably benign	Het
Tpp2	T	C	1: 44,014,607 (GRCm39)	F649L	probably benign	Het
Ttll1	G	A	15: 83,386,426 (GRCm39)	Q60*	probably null	Het
Vcp	C	T	4: 42,982,565 (GRCm39)	R709Q	probably benign	Het
Vmn1r119	T	A	7: 20,745,593 (GRCm39)	H263L	possibly damaging	Het
Vmn1r195	C	A	13: 22,463,111 (GRCm39)	Q194K	probably damaging	Het
Vmn1r33	T	C	6: 66,588,783 (GRCm39)	Y257C	probably damaging	Het
Vmn2r15	A	G	5: 109,440,881 (GRCm39)	F326L	probably benign	Het
Wbp11	A	T	6: 136,793,108 (GRCm39)		probably benign	Het
Wwp2	T	G	8: 108,244,578 (GRCm39)	V250G	probably benign	Het
Xpnpep3	T	C	15: 81,315,038 (GRCm39)	V246A	probably benign	Het
Zcchc14	G	A	8: 122,332,188 (GRCm39)	R419*	probably null	Het

Other mutations in Igfbp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Igfbp7	APN	5	77,499,884 (GRCm39)	splice site	probably benign
IGL01528:Igfbp7	APN	5	77,499,179 (GRCm39)	missense	probably damaging	1.00
IGL02964:Igfbp7	APN	5	77,499,188 (GRCm39)	missense	possibly damaging	0.65
IGL03223:Igfbp7	APN	5	77,497,318 (GRCm39)	utr 3 prime	probably benign
R0403:Igfbp7	UTSW	5	77,503,438 (GRCm39)	missense	probably benign	0.36
R4647:Igfbp7	UTSW	5	77,499,143 (GRCm39)	missense	possibly damaging	0.93
R4688:Igfbp7	UTSW	5	77,555,482 (GRCm39)	missense	probably damaging	1.00
R4945:Igfbp7	UTSW	5	77,499,104 (GRCm39)	missense	probably benign	0.44
R4970:Igfbp7	UTSW	5	77,555,608 (GRCm39)	missense	possibly damaging	0.83
R7095:Igfbp7	UTSW	5	77,549,337 (GRCm39)	missense	probably benign	0.28
R7332:Igfbp7	UTSW	5	77,499,803 (GRCm39)	missense	probably damaging	1.00
R7751:Igfbp7	UTSW	5	77,499,134 (GRCm39)	missense	probably damaging	1.00
R8243:Igfbp7	UTSW	5	77,549,339 (GRCm39)	missense	probably benign	0.30
R9709:Igfbp7	UTSW	5	77,549,384 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGAGAATAATTTCAGGCAGGCGACC -3'
(R):5'- GGGTGACCATGCATACTCCACAAG -3'

Sequencing Primer
(F):5'- ACCTTTGCCAAGCCTGG -3'
(R):5'- tggtacacaccattaatcccag -3'

Posted On

2013-07-11