Mutagenetix > Incidental Mutation

Incidental Mutation 'R6169:Itgbl1'

490342

Institutional Source

Beutler Lab

Gene Symbol

Itgbl1

Ensembl Gene

ENSMUSG00000032925

Gene Name

integrin, beta-like 1

Synonyms

with EGF-like repeat domains, B930011D01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123897383-124213030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123897790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 24 (A24T)

Ref Sequence

ENSEMBL: ENSMUSP00000121659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049681] [ENSMUST00000132026] [ENSMUST00000142161]

AlphaFold

Q8VDV0

Predicted Effect

probably benign
Transcript: ENSMUST00000049681
AA Change: A24T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: A24T

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
internal_repeat_1	62	164	7.9e-12	PROSPERO
EGF_like	184	217	6.95e1	SMART
EGF	275	311	2.25e1	SMART
low complexity region	335	348	N/A	INTRINSIC
Pfam:EGF_2	368	398	3.6e-8	PFAM
low complexity region	423	438	N/A	INTRINSIC
low complexity region	448	456	N/A	INTRINSIC
Blast:EGF_like	457	486	4e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000132026

SMART Domains

Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925

Domain	Start	End	E-Value	Type
internal_repeat_2	22	50	3.54e-8	PROSPERO
internal_repeat_1	23	87	7.45e-14	PROSPERO
low complexity region	101	126	N/A	INTRINSIC
EGF	151	187	2.25e1	SMART
low complexity region	211	224	N/A	INTRINSIC
Pfam:EGF_2	239	274	1.5e-7	PFAM
low complexity region	299	314	N/A	INTRINSIC
low complexity region	324	332	N/A	INTRINSIC
internal_repeat_2	334	362	3.54e-8	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000142161
AA Change: A24T

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121659
Gene: ENSMUSG00000032925
AA Change: A24T

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
PDB:4G1E\|B	59	171	1e-17	PDB
Blast:EGF_like	90	127	5e-15	BLAST
low complexity region	178	192	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (67/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	A	11: 3,888,005 (GRCm39)	C127F	unknown	Het
9930111J21Rik2	A	T	11: 48,910,088 (GRCm39)		probably null	Het
Adamts16	A	T	13: 70,918,393 (GRCm39)	L676*	probably null	Het
Adgrv1	A	T	13: 81,567,378 (GRCm39)	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Akap6	T	A	12: 53,189,141 (GRCm39)	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Ankrd50	A	G	3: 38,509,988 (GRCm39)	V793A	probably damaging	Het
Arid2	T	A	15: 96,266,558 (GRCm39)	N535K	probably benign	Het
Atrnl1	A	G	19: 57,630,895 (GRCm39)	T221A	probably benign	Het
Bbof1	C	T	12: 84,473,588 (GRCm39)	T306I	probably benign	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,275,131 (GRCm39)	A351S	probably benign	Het
Cetn3	A	C	13: 81,940,097 (GRCm39)	R44S	probably damaging	Het
Cluap1	A	G	16: 3,746,425 (GRCm39)	K262R	possibly damaging	Het
Cnrip1	G	A	11: 17,004,731 (GRCm39)	V94I	probably null	Het
Cog6	A	T	3: 52,914,722 (GRCm39)	S245T	probably benign	Het
Disp2	T	A	2: 118,622,031 (GRCm39)	V921D	probably damaging	Het
Entrep2	G	A	7: 64,409,147 (GRCm39)	P416S	probably benign	Het
Ep400	T	C	5: 110,889,863 (GRCm39)	K504E	possibly damaging	Het
Fbn1	T	A	2: 125,177,409 (GRCm39)		probably null	Het
Fyb2	T	C	4: 104,857,713 (GRCm39)	V630A	probably benign	Het
Gm43218	T	A	6: 70,217,606 (GRCm39)	Y50F	probably benign	Het
Gm5431	T	C	11: 48,779,402 (GRCm39)	T507A	probably benign	Het
Gucy2e	G	T	11: 69,126,930 (GRCm39)	A181E	probably benign	Het
Hrnr	C	G	3: 93,233,062 (GRCm39)	S1100*	probably null	Het
Htt	T	C	5: 35,064,817 (GRCm39)	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,575,918 (GRCm39)	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,579,577 (GRCm39)	K25E	possibly damaging	Het
Il6ra	A	G	3: 89,778,598 (GRCm39)	F417S	probably benign	Het
Itgb4	T	C	11: 115,885,102 (GRCm39)	S994P	probably damaging	Het
Itpr1	T	C	6: 108,346,077 (GRCm39)	F127L	probably damaging	Het
Itprid2	T	G	2: 79,475,406 (GRCm39)	I455R	probably damaging	Het
Krt86	A	G	15: 101,374,170 (GRCm39)	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,838,230 (GRCm39)	W11R	probably damaging	Het
Mast4	A	G	13: 102,923,929 (GRCm39)	L302P	probably damaging	Het
Mettl3	A	G	14: 52,536,214 (GRCm39)	V210A	possibly damaging	Het
Mllt1	T	C	17: 57,206,822 (GRCm39)	T341A	probably benign	Het
Obscn	T	C	11: 58,891,325 (GRCm39)	E7069G	unknown	Het
Or1e27-ps1	A	T	11: 73,556,160 (GRCm39)	T242S	possibly damaging	Het
Or52b4	T	C	7: 102,184,479 (GRCm39)	I175T	probably benign	Het
Osgep	A	G	14: 51,157,209 (GRCm39)	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,347,675 (GRCm39)	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,350,443 (GRCm39)	E197V	probably null	Het
Pkn1	G	A	8: 84,407,835 (GRCm39)	Q425*	probably null	Het
Pramel22	T	C	4: 143,380,685 (GRCm39)	Y446C	probably benign	Het
Prss35	T	C	9: 86,637,491 (GRCm39)	I87T	probably benign	Het
Psmc3	T	C	2: 90,888,184 (GRCm39)	F304S	probably damaging	Het
Psmd11	T	A	11: 80,351,539 (GRCm39)	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,292,385 (GRCm39)	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,428,894 (GRCm39)	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,848,913 (GRCm39)	S280P	probably damaging	Het
Slc39a12	T	C	2: 14,405,044 (GRCm39)	I212T	possibly damaging	Het
Slc7a12	T	C	3: 14,562,388 (GRCm39)	V255A	probably damaging	Het
Smc3	T	A	19: 53,622,517 (GRCm39)	N697K	probably benign	Het
Snai1	C	A	2: 167,380,831 (GRCm39)	P108Q	probably benign	Het
Stim2	T	G	5: 54,276,021 (GRCm39)	L732R	probably damaging	Het
Syde1	A	G	10: 78,421,938 (GRCm39)	L597S	probably damaging	Het
Tcte1	T	A	17: 45,845,996 (GRCm39)	M200K	probably benign	Het
Tenm2	T	A	11: 36,030,517 (GRCm39)	T761S	probably damaging	Het
Thoc2l	T	A	5: 104,666,262 (GRCm39)	N261K	probably benign	Het
Tlr2	C	A	3: 83,745,455 (GRCm39)	E209D	probably benign	Het
Tpp2	T	C	1: 44,022,739 (GRCm39)	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,304,704 (GRCm39)		probably benign	Het
Unc45a	A	C	7: 79,978,511 (GRCm39)	S646A	possibly damaging	Het
Usp37	A	T	1: 74,534,910 (GRCm39)	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,104,382 (GRCm39)	V335A	probably benign	Het
Wwc2	A	T	8: 48,311,878 (GRCm39)	S762T	unknown	Het
Yeats2	A	G	16: 20,038,417 (GRCm39)	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,251,558 (GRCm39)	V198A	probably benign	Het

Other mutations in Itgbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Itgbl1	APN	14	124,083,844 (GRCm39)	splice site	probably benign
IGL01290:Itgbl1	APN	14	124,204,137 (GRCm39)	missense	probably benign	0.02
IGL01618:Itgbl1	APN	14	124,065,211 (GRCm39)	missense	possibly damaging	0.88
IGL02024:Itgbl1	APN	14	124,094,904 (GRCm39)	missense	probably damaging	1.00
IGL02192:Itgbl1	APN	14	124,081,338 (GRCm39)	missense	probably damaging	1.00
IGL02215:Itgbl1	APN	14	124,209,553 (GRCm39)	missense	probably benign	0.01
IGL02400:Itgbl1	APN	14	124,083,938 (GRCm39)	missense	probably damaging	1.00
IGL02483:Itgbl1	APN	14	124,065,155 (GRCm39)	splice site	probably benign
BB002:Itgbl1	UTSW	14	124,210,735 (GRCm39)	missense	possibly damaging	0.68
BB012:Itgbl1	UTSW	14	124,210,735 (GRCm39)	missense	possibly damaging	0.68
H8441:Itgbl1	UTSW	14	124,210,699 (GRCm39)	missense	probably damaging	1.00
R0137:Itgbl1	UTSW	14	124,078,098 (GRCm39)	critical splice donor site	probably null
R0193:Itgbl1	UTSW	14	124,083,958 (GRCm39)	missense	probably benign	0.09
R0355:Itgbl1	UTSW	14	124,077,997 (GRCm39)	nonsense	probably null
R0598:Itgbl1	UTSW	14	124,094,848 (GRCm39)	missense	possibly damaging	0.93
R0662:Itgbl1	UTSW	14	124,065,306 (GRCm39)	missense	probably damaging	1.00
R0689:Itgbl1	UTSW	14	124,065,259 (GRCm39)	missense	possibly damaging	0.65
R1385:Itgbl1	UTSW	14	123,898,923 (GRCm39)	splice site	probably null
R1957:Itgbl1	UTSW	14	124,204,090 (GRCm39)	missense	probably damaging	1.00
R3739:Itgbl1	UTSW	14	124,204,090 (GRCm39)	missense	probably damaging	1.00
R3842:Itgbl1	UTSW	14	124,077,977 (GRCm39)	missense	possibly damaging	0.92
R4434:Itgbl1	UTSW	14	124,209,611 (GRCm39)	missense	probably damaging	1.00
R4463:Itgbl1	UTSW	14	124,078,080 (GRCm39)	missense	probably damaging	0.97
R4696:Itgbl1	UTSW	14	124,204,120 (GRCm39)	missense	probably damaging	1.00
R4937:Itgbl1	UTSW	14	124,210,780 (GRCm39)	missense	probably benign	0.12
R5087:Itgbl1	UTSW	14	124,204,151 (GRCm39)	missense	possibly damaging	0.52
R5747:Itgbl1	UTSW	14	124,209,576 (GRCm39)	nonsense	probably null
R6020:Itgbl1	UTSW	14	124,083,977 (GRCm39)	missense	probably damaging	0.99
R6758:Itgbl1	UTSW	14	124,094,901 (GRCm39)	missense	probably benign	0.23
R7213:Itgbl1	UTSW	14	124,210,709 (GRCm39)	missense	probably damaging	1.00
R7259:Itgbl1	UTSW	14	124,081,316 (GRCm39)	missense	probably damaging	0.96
R7378:Itgbl1	UTSW	14	124,094,901 (GRCm39)	missense	probably benign	0.23
R7461:Itgbl1	UTSW	14	124,065,211 (GRCm39)	missense	possibly damaging	0.88
R7664:Itgbl1	UTSW	14	124,083,962 (GRCm39)	missense	probably damaging	1.00
R7841:Itgbl1	UTSW	14	124,209,645 (GRCm39)	critical splice donor site	probably null
R7925:Itgbl1	UTSW	14	124,210,735 (GRCm39)	missense	possibly damaging	0.68
R8115:Itgbl1	UTSW	14	124,094,955 (GRCm39)	missense	probably damaging	1.00
R8260:Itgbl1	UTSW	14	124,065,246 (GRCm39)	missense	probably benign	0.00
R8778:Itgbl1	UTSW	14	124,078,075 (GRCm39)	missense	probably benign	0.01
R8978:Itgbl1	UTSW	14	124,209,617 (GRCm39)	missense	probably damaging	1.00
R9186:Itgbl1	UTSW	14	124,094,970 (GRCm39)	missense	probably benign
V1024:Itgbl1	UTSW	14	124,210,699 (GRCm39)	missense	probably damaging	1.00
X0012:Itgbl1	UTSW	14	123,898,717 (GRCm39)	missense	probably benign	0.01
X0017:Itgbl1	UTSW	14	124,209,623 (GRCm39)	missense	possibly damaging	0.81
Z1176:Itgbl1	UTSW	14	124,192,084 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCTGCCTGGACATCTGCTG -3'
(R):5'- ACCCTAACATGTATTTGCAGGG -3'

Sequencing Primer
(F):5'- GGACATCTGCTGGTGACACTTC -3'
(R):5'- GGGGAGAAATGATATCCGCTTTATTC -3'

Posted On

2017-10-10