Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02681:Il11ra1'

303356

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il11ra1

Ensembl Gene

ENSMUSG00000073889

Gene Name

interleukin 11 receptor subunit alpha 1

Synonyms

Il-11ra-alpha, Il-11ra, NR1, Il11ra

Accession Numbers

Essential gene?

Probably essential (E-score: 0.786) question?

Stock #

IGL02681

Quality Score

Status

Chromosome

Chromosomal Location

41760443-41769473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41768552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 412 (M412K)

Ref Sequence

ENSEMBL: ENSMUSP00000103677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074387] [ENSMUST00000098132] [ENSMUST00000108032] [ENSMUST00000108033] [ENSMUST00000108035] [ENSMUST00000108036] [ENSMUST00000108037] [ENSMUST00000108040] [ENSMUST00000108041] [ENSMUST00000108042] [ENSMUST00000131349] [ENSMUST00000155240] [ENSMUST00000155322] [ENSMUST00000151142] [ENSMUST00000173865]

AlphaFold

Q64385

Predicted Effect

probably benign
Transcript: ENSMUST00000074387

SMART Domains

Protein: ENSMUSP00000073990
Gene: ENSMUSG00000073888

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SCY	31	97	5.12e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098132
AA Change: M412K

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095736
Gene: ENSMUSG00000073889
AA Change: M412K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	33	108	5.75e-4	SMART
FN3	112	204	2.18e-2	SMART
FN3	218	304	4.93e-1	SMART
low complexity region	354	365	N/A	INTRINSIC
transmembrane domain	369	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108032

Predicted Effect

probably benign
Transcript: ENSMUST00000108033

SMART Domains

Protein: ENSMUSP00000103668
Gene: ENSMUSG00000073888

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SCY	30	96	5.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108035

SMART Domains

Protein: ENSMUSP00000103670
Gene: ENSMUSG00000073888

Domain	Start	End	E-Value	Type
SCY	38	104	5.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108036

SMART Domains

Protein: ENSMUSP00000103671
Gene: ENSMUSG00000073888

Domain	Start	End	E-Value	Type
SCY	75	141	5.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108037

SMART Domains

Protein: ENSMUSP00000103672
Gene: ENSMUSG00000073888

Domain	Start	End	E-Value	Type
SCY	75	141	5.12e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108040
AA Change: M412K

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103675
Gene: ENSMUSG00000073889
AA Change: M412K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	33	108	5.75e-4	SMART
FN3	112	204	2.18e-2	SMART
FN3	218	304	4.93e-1	SMART
low complexity region	354	365	N/A	INTRINSIC
transmembrane domain	369	391	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108041
AA Change: M412K

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889
AA Change: M412K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	33	108	5.75e-4	SMART
FN3	112	204	2.18e-2	SMART
FN3	218	304	4.93e-1	SMART
low complexity region	354	365	N/A	INTRINSIC
transmembrane domain	369	391	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108042
AA Change: M412K

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103677
Gene: ENSMUSG00000073889
AA Change: M412K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	33	108	5.75e-4	SMART
FN3	112	204	2.18e-2	SMART
FN3	218	304	4.93e-1	SMART
low complexity region	354	365	N/A	INTRINSIC
transmembrane domain	369	391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140894

Predicted Effect

probably benign
Transcript: ENSMUST00000131349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155538

Predicted Effect

probably benign
Transcript: ENSMUST00000155240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145445

Predicted Effect

probably benign
Transcript: ENSMUST00000155322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152748

Predicted Effect

probably benign
Transcript: ENSMUST00000151142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151909

Predicted Effect

probably benign
Transcript: ENSMUST00000173865

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Female homozygotes for targeted null mutations are infertile due to defective decidua formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcar3	C	T	3: 122,306,417 (GRCm39)		probably null	Het
Cyp3a59	T	C	5: 146,027,556 (GRCm39)		probably benign	Het
Dnah2	G	A	11: 69,343,759 (GRCm39)	T2844M	probably benign	Het
Ehbp1l1	T	C	19: 5,770,853 (GRCm39)	I241M	probably damaging	Het
Fancl	G	A	11: 26,418,722 (GRCm39)		probably null	Het
Filip1l	A	G	16: 57,392,142 (GRCm39)	Q910R	probably benign	Het
Fn1	A	T	1: 71,658,641 (GRCm39)	V1139E	probably damaging	Het
Gm4787	A	G	12: 81,425,543 (GRCm39)	V205A	possibly damaging	Het
Gpr158	T	A	2: 21,820,441 (GRCm39)	L646Q	probably damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Klra10	T	A	6: 130,256,382 (GRCm39)	M91L	probably damaging	Het
Krba1	T	A	6: 48,381,052 (GRCm39)	D129E	probably damaging	Het
Mat1a	T	C	14: 40,844,453 (GRCm39)		probably benign	Het
Med24	T	A	11: 98,600,565 (GRCm39)	K627*	probably null	Het
Mpl	A	T	4: 118,306,068 (GRCm39)		probably benign	Het
Mynn	T	A	3: 30,670,791 (GRCm39)	D554E	probably benign	Het
Niban2	A	G	2: 32,801,402 (GRCm39)	Y122C	probably benign	Het
Or1e23	T	C	11: 73,407,356 (GRCm39)	Y223C	probably benign	Het
Prkcd	T	C	14: 30,323,190 (GRCm39)		probably null	Het
Prrc2c	T	C	1: 162,533,181 (GRCm39)		probably benign	Het
Scp2d1	T	C	2: 144,665,804 (GRCm39)	F48L	probably benign	Het
Slc12a2	A	G	18: 58,012,471 (GRCm39)	H198R	probably benign	Het
Sulf2	A	G	2: 165,958,905 (GRCm39)	V101A	probably benign	Het
Synj2	T	A	17: 6,040,611 (GRCm39)	V144E	probably damaging	Het
Tas2r113	T	G	6: 132,870,330 (GRCm39)	F119L	probably damaging	Het
Tspan17	A	G	13: 54,937,442 (GRCm39)	E12G	probably damaging	Het

Other mutations in Il11ra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0013:Il11ra1	UTSW	4	41,765,060 (GRCm39)	missense	probably damaging	1.00
R0032:Il11ra1	UTSW	4	41,768,187 (GRCm39)	missense	probably damaging	1.00
R0032:Il11ra1	UTSW	4	41,768,187 (GRCm39)	missense	probably damaging	1.00
R0365:Il11ra1	UTSW	4	41,767,527 (GRCm39)	missense	probably damaging	1.00
R0399:Il11ra1	UTSW	4	41,766,185 (GRCm39)	missense	probably benign	0.03
R1585:Il11ra1	UTSW	4	41,768,207 (GRCm39)	missense	probably damaging	0.98
R1591:Il11ra1	UTSW	4	41,766,200 (GRCm39)	missense	probably damaging	1.00
R2424:Il11ra1	UTSW	4	41,768,222 (GRCm39)	missense	probably damaging	1.00
R3037:Il11ra1	UTSW	4	41,765,074 (GRCm39)	missense	possibly damaging	0.94
R4393:Il11ra1	UTSW	4	41,768,577 (GRCm39)	critical splice donor site	probably null
R4770:Il11ra1	UTSW	4	41,768,187 (GRCm39)	missense	probably damaging	1.00
R4798:Il11ra1	UTSW	4	41,766,096 (GRCm39)	unclassified	probably benign
R5256:Il11ra1	UTSW	4	41,767,932 (GRCm39)	unclassified	probably benign
R6005:Il11ra1	UTSW	4	41,763,887 (GRCm39)	critical splice donor site	probably null
R6309:Il11ra1	UTSW	4	41,765,279 (GRCm39)	missense	possibly damaging	0.87
R6499:Il11ra1	UTSW	4	41,765,412 (GRCm39)	missense	probably benign	0.04
R6833:Il11ra1	UTSW	4	41,765,454 (GRCm39)	missense	probably benign	0.00
R6834:Il11ra1	UTSW	4	41,765,454 (GRCm39)	missense	probably benign	0.00
R7015:Il11ra1	UTSW	4	41,765,421 (GRCm39)	missense	probably benign	0.06
R7122:Il11ra1	UTSW	4	41,766,189 (GRCm39)	missense	probably damaging	0.99
R7275:Il11ra1	UTSW	4	41,765,109 (GRCm39)	missense	probably damaging	1.00
R7710:Il11ra1	UTSW	4	41,764,846 (GRCm39)	missense	probably benign
R8116:Il11ra1	UTSW	4	41,766,251 (GRCm39)	missense	probably benign	0.27
R8711:Il11ra1	UTSW	4	41,767,539 (GRCm39)	missense	probably damaging	1.00
R9508:Il11ra1	UTSW	4	41,767,527 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16