Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Il11ra1'

98852

Institutional Source

Beutler Lab

Gene Symbol

Il11ra1

Ensembl Gene

ENSMUSG00000073889

Gene Name

interleukin 11 receptor, alpha chain 1

Synonyms

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

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.672) question?

Stock #

R0013 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

41699989-41769474 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41765060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 129 (S129P)

Ref Sequence

ENSEMBL: ENSMUSP00000103677 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000098132
AA Change: S129P

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

SMART Domains

Protein: ENSMUSP00000095736
Gene: ENSMUSG00000073889
AA Change: S129P

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: 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

probably damaging
Transcript: ENSMUST00000108040
AA Change: S129P

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

SMART Domains

Protein: ENSMUSP00000103675
Gene: ENSMUSG00000073889
AA Change: S129P

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 damaging
Transcript: ENSMUST00000108041
AA Change: S129P

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

SMART Domains

Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889
AA Change: S129P

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 damaging
Transcript: ENSMUST00000108042
AA Change: S129P

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

SMART Domains

Protein: ENSMUSP00000103677
Gene: ENSMUSG00000073889
AA Change: S129P

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: ENSMUST00000131349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155538

Predicted Effect

probably benign
Transcript: ENSMUST00000151142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140894

Predicted Effect

probably benign
Transcript: ENSMUST00000155322

Meta Mutation Damage Score

0.7577

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,457,512	M156V	probably benign	Het
Adnp2	A	T	18: 80,129,745	V483D	probably damaging	Het
Aff1	G	T	5: 103,828,484	E491*	probably null	Het
Agl	A	T	3: 116,776,608	C911*	probably null	Het
Akt2	A	G	7: 27,636,058	D284G	probably damaging	Het
Alox15	A	G	11: 70,349,635	M240T	possibly damaging	Het
Antxr2	A	G	5: 97,979,985	V229A	probably damaging	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Btaf1	A	G	19: 36,958,373	T188A	probably benign	Het
Btnl6	G	A	17: 34,515,531	Q86*	probably null	Het
C2cd3	T	A	7: 100,416,062	L685H	probably damaging	Het
Cdh23	T	C	10: 60,413,173	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,202,149	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,755,836	T2500S	possibly damaging	Het
Def6	A	G	17: 28,217,092	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,993,635	F448L	probably damaging	Het
Dner	C	T	1: 84,494,893		probably benign	Het
Dnmbp	G	A	19: 43,902,231	P366S	probably benign	Het
Eif4g3	T	C	4: 138,175,848	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,912,901		probably benign	Het
Faah	C	A	4: 116,004,391	L305F	probably damaging	Het
Fam71b	A	G	11: 46,406,804	T312A	unknown	Het
Flt1	A	G	5: 147,571,014		probably benign	Het
Fyco1	A	T	9: 123,822,406	N1196K	probably benign	Het
Galnt18	T	C	7: 111,554,457	N320S	probably damaging	Het
Glp2r	C	A	11: 67,709,712	G437V	possibly damaging	Het
Gm4884	T	C	7: 41,044,292	S562P	probably damaging	Het
Gm9936	A	G	5: 114,857,347		probably benign	Het
Gpn2	C	A	4: 133,584,792	P112T	probably damaging	Het
Grm4	A	G	17: 27,431,575	Y816H	probably benign	Het
Helz2	A	T	2: 181,240,959	S14T	probably benign	Het
Htt	T	C	5: 34,820,104	L778P	probably benign	Het
Ints11	T	C	4: 155,887,168	F315S	probably damaging	Het
Itga11	A	T	9: 62,776,613	N1059Y	possibly damaging	Het
Jak3	A	G	8: 71,684,327	S716G	probably damaging	Het
Kcns1	G	T	2: 164,168,643	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715	K1305N	probably benign	Het
Kif26a	G	T	12: 112,177,880	V1523L	probably benign	Het
Mboat7	A	G	7: 3,683,822	S340P	probably damaging	Het
Mctp2	T	C	7: 72,229,408	I234V	probably benign	Het
Mex3c	G	A	18: 73,590,551	A572T	probably benign	Het
Mpp3	C	A	11: 102,005,425	R424L	probably benign	Het
Mroh4	T	A	15: 74,608,237		probably benign	Het
Myo9a	A	T	9: 59,860,206		probably benign	Het
Myog	T	A	1: 134,290,235	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,571,225		probably null	Het
Notch1	A	G	2: 26,473,818	V868A	possibly damaging	Het
Olfr352	A	G	2: 36,870,160	N198S	probably damaging	Het
Olfr59	T	A	11: 74,289,051	I135N	possibly damaging	Het
Olfr73	T	C	2: 88,034,266	Y291C	possibly damaging	Het
Olfr980	A	T	9: 40,006,355	I198N	probably damaging	Het
Pink1	T	C	4: 138,317,401	T342A	probably benign	Het
Plb1	T	A	5: 32,349,615		probably benign	Het
Plec	T	C	15: 76,178,246	D2524G	probably damaging	Het
Plekhg4	G	T	8: 105,375,396	E6*	probably null	Het
Polq	T	C	16: 37,061,839	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,249,058		probably benign	Het
Prkaca	G	A	8: 83,988,303	M119I	possibly damaging	Het
Prss46	G	T	9: 110,850,055	S108I	probably damaging	Het
Ptma	C	T	1: 86,529,776		probably benign	Het
Rab11fip4	C	T	11: 79,689,653	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409	M437K	probably benign	Het
Rrn3	T	A	16: 13,813,113	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,348,405		probably benign	Het
Sis	A	G	3: 72,910,476	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,707,918	M1450V	probably benign	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sntg1	T	C	1: 8,463,462	T323A	probably damaging	Het
Son	C	T	16: 91,651,662	T37I	probably damaging	Het
Stk17b	T	C	1: 53,764,132	I41M	probably benign	Het
Tgm5	T	A	2: 121,076,882	Y120F	probably damaging	Het
Tppp	A	G	13: 74,021,360	K73R	possibly damaging	Het
Ttn	C	T	2: 76,907,752	V4148I	probably benign	Het
Ttn	C	A	2: 76,739,158	K27130N	probably damaging	Het
Uba7	A	T	9: 107,978,249	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,542,576		probably benign	Het
Zcchc11	T	A	4: 108,530,955		probably benign	Het
Zfp839	T	A	12: 110,868,386	S692T	possibly damaging	Het

Other mutations in Il11ra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02681:Il11ra1	APN	4	41768552	missense	possibly damaging	0.73
R0032:Il11ra1	UTSW	4	41768187	missense	probably damaging	1.00
R0032:Il11ra1	UTSW	4	41768187	missense	probably damaging	1.00
R0365:Il11ra1	UTSW	4	41767527	missense	probably damaging	1.00
R0399:Il11ra1	UTSW	4	41766185	missense	probably benign	0.03
R1585:Il11ra1	UTSW	4	41768207	missense	probably damaging	0.98
R1591:Il11ra1	UTSW	4	41766200	missense	probably damaging	1.00
R2424:Il11ra1	UTSW	4	41768222	missense	probably damaging	1.00
R3037:Il11ra1	UTSW	4	41765074	missense	possibly damaging	0.94
R4393:Il11ra1	UTSW	4	41768577	critical splice donor site	probably null
R4770:Il11ra1	UTSW	4	41768187	missense	probably damaging	1.00
R4798:Il11ra1	UTSW	4	41766096	unclassified	probably benign
R5256:Il11ra1	UTSW	4	41767932	unclassified	probably benign
R6005:Il11ra1	UTSW	4	41763887	critical splice donor site	probably null
R6309:Il11ra1	UTSW	4	41765279	missense	possibly damaging	0.87
R6499:Il11ra1	UTSW	4	41765412	missense	probably benign	0.04
R6833:Il11ra1	UTSW	4	41765454	missense	probably benign	0.00
R6834:Il11ra1	UTSW	4	41765454	missense	probably benign	0.00
R7015:Il11ra1	UTSW	4	41765421	missense	probably benign	0.06
R7122:Il11ra1	UTSW	4	41766189	missense	probably damaging	0.99
R7275:Il11ra1	UTSW	4	41765109	missense	probably damaging	1.00
R7710:Il11ra1	UTSW	4	41764846	missense	probably benign
R8116:Il11ra1	UTSW	4	41766251	missense	probably benign	0.27
R8711:Il11ra1	UTSW	4	41767539	missense	probably damaging	1.00
R9508:Il11ra1	UTSW	4	41767527	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAGCCCTGATGAAGGCACTTATG -3'
(R):5'- TGATCCGGTACTCACTCCAGAACTC -3'

Sequencing Primer
(F):5'- AAGGCACTTATGTCTGCCAG -3'
(R):5'- CAGCGTCTTCTTCCTGGTAAAAAG -3'

Posted On

2014-01-10