Mutagenetix > Incidental Mutation

Incidental Mutation 'R2897:Lrriq1'

260859

Institutional Source

Beutler Lab

Gene Symbol

Lrriq1

Ensembl Gene

ENSMUSG00000019892

Gene Name

leucine-rich repeats and IQ motif containing 1

Synonyms

Gm1557, LOC380658, 4930503E15Rik

MMRRC Submission

040485-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R2897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102881892-103072183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103063111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 65 (N65S)

Ref Sequence

ENSEMBL: ENSMUSP00000119783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020043] [ENSMUST00000123364] [ENSMUST00000166240]

AlphaFold

Q0P5X1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020043
AA Change: N65S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020043
Gene: ENSMUSG00000019892
AA Change: N65S

Domain	Start	End	E-Value	Type
coiled coil region	11	31	N/A	INTRINSIC
low complexity region	35	48	N/A	INTRINSIC
coiled coil region	183	286	N/A	INTRINSIC
Blast:IQ	290	312	1e-6	BLAST
coiled coil region	314	390	N/A	INTRINSIC
low complexity region	550	559	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000123364
AA Change: N65S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119783
Gene: ENSMUSG00000019892
AA Change: N65S

Domain	Start	End	E-Value	Type
coiled coil region	11	31	N/A	INTRINSIC
low complexity region	35	48	N/A	INTRINSIC
coiled coil region	183	286	N/A	INTRINSIC
Blast:IQ	290	312	6e-6	BLAST
coiled coil region	314	390	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166240
AA Change: N65S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131419
Gene: ENSMUSG00000019892
AA Change: N65S

Domain	Start	End	E-Value	Type
coiled coil region	11	31	N/A	INTRINSIC
low complexity region	35	48	N/A	INTRINSIC
coiled coil region	183	286	N/A	INTRINSIC
IQ	290	312	9.78e1	SMART
coiled coil region	314	390	N/A	INTRINSIC
low complexity region	550	559	N/A	INTRINSIC
LRR	873	894	2.14e1	SMART
LRR	895	917	4.45e1	SMART
LRR	984	1005	2.03e2	SMART
LRR	1029	1052	3.65e0	SMART
low complexity region	1244	1258	N/A	INTRINSIC
IQ	1279	1301	5.61e1	SMART
IQ	1339	1361	6.7e-3	SMART
low complexity region	1369	1394	N/A	INTRINSIC
low complexity region	1502	1518	N/A	INTRINSIC
low complexity region	1528	1543	N/A	INTRINSIC

Meta Mutation Damage Score

0.1044

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,640 (GRCm39)	V1015A	probably benign	Het
4930480E11Rik	C	T	X: 77,413,868 (GRCm39)	Q198*	probably null	Het
Acap3	G	C	4: 155,989,388 (GRCm39)		probably null	Het
Adamts14	T	C	10: 61,040,689 (GRCm39)	D879G	probably damaging	Het
Akap1	A	T	11: 88,735,605 (GRCm39)	C352*	probably null	Het
Ankk1	T	A	9: 49,333,122 (GRCm39)	T121S	probably benign	Het
Ankrd6	T	C	4: 32,860,438 (GRCm39)	S2G	probably damaging	Het
Anks1	G	T	17: 28,204,337 (GRCm39)		probably null	Het
Apob	G	A	12: 8,060,356 (GRCm39)	G2946D	probably damaging	Het
Atm	A	C	9: 53,419,105 (GRCm39)	C782W	probably damaging	Het
Atp1a4	A	T	1: 172,074,257 (GRCm39)	I332N	probably damaging	Het
Bnc2	T	C	4: 84,211,152 (GRCm39)	I406V	probably damaging	Het
Cdh20	A	T	1: 104,875,199 (GRCm39)	D327V	probably damaging	Het
Cep192	T	A	18: 67,988,341 (GRCm39)		probably null	Het
Chd5	T	C	4: 152,456,572 (GRCm39)	F970L	probably damaging	Het
Coq9	T	C	8: 95,579,752 (GRCm39)	Y236H	probably damaging	Het
Csn1s2a	A	G	5: 87,929,680 (GRCm39)	H93R	unknown	Het
Cxcr2	T	C	1: 74,198,130 (GRCm39)	V208A	probably benign	Het
Cyp1b1	G	A	17: 80,021,160 (GRCm39)	T194M	probably benign	Het
Dbt	T	A	3: 116,317,061 (GRCm39)	V79E	probably damaging	Het
Dcx	A	G	X: 142,706,428 (GRCm39)		probably benign	Het
Dnm3	G	A	1: 162,113,643 (GRCm39)		probably benign	Het
Erbin	C	T	13: 104,022,705 (GRCm39)	E45K	probably damaging	Het
Fastkd1	A	G	2: 69,532,960 (GRCm39)	L469P	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10271	A	G	10: 116,808,495 (GRCm39)	L7S	probably damaging	Het
Gm5087	T	C	14: 13,158,805 (GRCm38)		noncoding transcript	Het
Hid1	A	G	11: 115,241,356 (GRCm39)	S645P	probably benign	Het
Hmcn1	C	T	1: 150,678,624 (GRCm39)	C499Y	probably damaging	Het
Ifna1	C	A	4: 88,768,450 (GRCm39)	Q43K	probably benign	Het
Ikbkb	G	T	8: 23,159,693 (GRCm39)	Q432K	possibly damaging	Het
Inpp4a	A	T	1: 37,405,675 (GRCm39)	H148L	probably benign	Het
Itpr2	C	T	6: 146,074,839 (GRCm39)	R2338Q	probably benign	Het
Itpr2	A	T	6: 146,224,667 (GRCm39)	I1441N	probably damaging	Het
Krt78	T	C	15: 101,855,541 (GRCm39)	R757G	probably benign	Het
Lmx1a	T	A	1: 167,658,109 (GRCm39)		probably benign	Het
Lpxn	T	A	19: 12,796,722 (GRCm39)	S81T	probably benign	Het
Mis18bp1	T	C	12: 65,180,360 (GRCm39)	D981G	probably benign	Het
Mpp4	T	C	1: 59,183,853 (GRCm39)	I296V	probably benign	Het
Mtrf1l	T	C	10: 5,767,565 (GRCm39)	R184G	probably benign	Het
Muc19	T	C	15: 91,822,550 (GRCm39)		noncoding transcript	Het
Myo6	T	A	9: 80,176,893 (GRCm39)		probably null	Het
Myom1	A	G	17: 71,408,215 (GRCm39)		probably benign	Het
Ndrg4	A	G	8: 96,405,014 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,522,782 (GRCm39)	S72G	probably benign	Het
Nlrc4	T	A	17: 74,755,040 (GRCm39)	M59L	probably benign	Het
Nuak2	A	T	1: 132,252,791 (GRCm39)	H115L	probably damaging	Het
Oog1	T	A	12: 87,655,178 (GRCm39)	I272K	probably damaging	Het
Or10aa1	T	C	1: 173,869,699 (GRCm39)	F61S	probably damaging	Het
Or52a20	A	T	7: 103,366,749 (GRCm39)	Y316F	probably benign	Het
Pcdhb1	A	G	18: 37,399,516 (GRCm39)	Y489C	probably damaging	Het
Pde5a	T	C	3: 122,572,651 (GRCm39)	I344T	probably benign	Het
Pip5kl1	C	A	2: 32,473,359 (GRCm39)	A332D	probably benign	Het
Pja1	T	C	X: 98,510,754 (GRCm39)	E385G	probably benign	Het
Psma6	A	T	12: 55,454,829 (GRCm39)	I53L	probably benign	Het
Ric8b	T	G	10: 84,783,761 (GRCm39)	D206E	probably benign	Het
Sardh	T	C	2: 27,079,559 (GRCm39)	D911G	probably benign	Het
Serpinb8	A	G	1: 107,534,776 (GRCm39)	T32A	unknown	Het
Shroom2	G	T	X: 151,443,035 (GRCm39)	T710K	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a7	A	G	8: 96,572,424 (GRCm39)		probably benign	Het
Stk36	T	A	1: 74,671,984 (GRCm39)	S895T	probably null	Het
Sycp3	G	A	10: 88,308,544 (GRCm39)	E205K	possibly damaging	Het
Tbc1d16	A	T	11: 119,048,654 (GRCm39)	I333N	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmeff1	T	A	4: 48,658,831 (GRCm39)	Y101*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttn	T	A	2: 76,549,500 (GRCm39)	T23399S	probably damaging	Het
Vipas39	A	G	12: 87,289,297 (GRCm39)	V389A	possibly damaging	Het
Vps41	T	C	13: 18,994,598 (GRCm39)		probably benign	Het
Zfp329	A	T	7: 12,544,413 (GRCm39)	H370Q	probably damaging	Het
Zfp37	C	T	4: 62,110,014 (GRCm39)	G350D	probably damaging	Het

Other mutations in Lrriq1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Lrriq1	APN	10	102,997,757 (GRCm39)	missense	probably damaging	0.99
IGL01523:Lrriq1	APN	10	103,053,977 (GRCm39)	nonsense	probably null
IGL01637:Lrriq1	APN	10	103,051,489 (GRCm39)	missense	probably benign
IGL02019:Lrriq1	APN	10	103,014,661 (GRCm39)	missense	probably benign	0.02
IGL02153:Lrriq1	APN	10	103,006,340 (GRCm39)	missense	probably benign	0.01
IGL02341:Lrriq1	APN	10	103,060,802 (GRCm39)	missense	probably benign	0.03
IGL02343:Lrriq1	APN	10	103,070,024 (GRCm39)	splice site	probably benign
IGL02408:Lrriq1	APN	10	102,982,142 (GRCm39)	missense	probably benign	0.17
IGL02431:Lrriq1	APN	10	103,036,500 (GRCm39)	missense	probably damaging	1.00
IGL02540:Lrriq1	APN	10	103,050,880 (GRCm39)	missense	probably benign	0.02
IGL02558:Lrriq1	APN	10	102,982,144 (GRCm39)	missense	probably damaging	1.00
IGL02613:Lrriq1	APN	10	102,980,409 (GRCm39)	missense	probably damaging	0.99
IGL02642:Lrriq1	APN	10	103,057,322 (GRCm39)	critical splice acceptor site	probably null
IGL03027:Lrriq1	APN	10	103,063,057 (GRCm39)	missense	probably benign	0.35
PIT4362001:Lrriq1	UTSW	10	102,907,055 (GRCm39)	missense	probably benign	0.26
R0050:Lrriq1	UTSW	10	102,904,792 (GRCm39)	missense	probably damaging	0.99
R0050:Lrriq1	UTSW	10	102,904,792 (GRCm39)	missense	probably damaging	0.99
R0068:Lrriq1	UTSW	10	102,899,279 (GRCm39)	missense	probably benign	0.02
R0068:Lrriq1	UTSW	10	102,899,279 (GRCm39)	missense	probably benign	0.02
R0124:Lrriq1	UTSW	10	103,006,281 (GRCm39)	critical splice donor site	probably null
R0244:Lrriq1	UTSW	10	103,051,634 (GRCm39)	missense	probably damaging	0.98
R0323:Lrriq1	UTSW	10	103,057,150 (GRCm39)	missense	possibly damaging	0.91
R0515:Lrriq1	UTSW	10	102,904,829 (GRCm39)	splice site	probably null
R0522:Lrriq1	UTSW	10	102,997,638 (GRCm39)	missense	probably damaging	0.99
R0701:Lrriq1	UTSW	10	103,069,905 (GRCm39)	missense	probably benign
R1220:Lrriq1	UTSW	10	102,906,990 (GRCm39)	missense	probably benign	0.05
R1261:Lrriq1	UTSW	10	103,069,998 (GRCm39)	missense	possibly damaging	0.87
R1262:Lrriq1	UTSW	10	103,069,998 (GRCm39)	missense	possibly damaging	0.87
R1451:Lrriq1	UTSW	10	103,038,376 (GRCm39)	splice site	probably benign
R1642:Lrriq1	UTSW	10	103,050,317 (GRCm39)	missense	probably benign	0.13
R1643:Lrriq1	UTSW	10	103,050,685 (GRCm39)	missense	probably benign	0.00
R1647:Lrriq1	UTSW	10	103,006,509 (GRCm39)	nonsense	probably null
R1830:Lrriq1	UTSW	10	102,997,620 (GRCm39)	missense	probably benign
R1843:Lrriq1	UTSW	10	103,063,034 (GRCm39)	splice site	probably null
R2128:Lrriq1	UTSW	10	103,050,718 (GRCm39)	missense	probably benign	0.01
R2129:Lrriq1	UTSW	10	103,050,718 (GRCm39)	missense	probably benign	0.01
R2199:Lrriq1	UTSW	10	102,904,774 (GRCm39)	missense	probably damaging	1.00
R2354:Lrriq1	UTSW	10	103,025,848 (GRCm39)	missense	probably damaging	1.00
R2495:Lrriq1	UTSW	10	103,038,242 (GRCm39)	missense	probably damaging	0.97
R2898:Lrriq1	UTSW	10	103,063,111 (GRCm39)	missense	probably damaging	0.99
R2922:Lrriq1	UTSW	10	103,050,536 (GRCm39)	missense	probably benign	0.00
R2939:Lrriq1	UTSW	10	102,980,750 (GRCm39)	missense	probably damaging	0.98
R2965:Lrriq1	UTSW	10	103,050,761 (GRCm39)	missense	probably benign	0.07
R2966:Lrriq1	UTSW	10	103,050,761 (GRCm39)	missense	probably benign	0.07
R3081:Lrriq1	UTSW	10	102,980,750 (GRCm39)	missense	probably damaging	0.98
R3115:Lrriq1	UTSW	10	103,006,294 (GRCm39)	missense	probably benign	0.00
R3745:Lrriq1	UTSW	10	103,006,717 (GRCm39)	missense	probably damaging	0.99
R3813:Lrriq1	UTSW	10	103,051,972 (GRCm39)	missense	probably damaging	1.00
R3814:Lrriq1	UTSW	10	103,051,972 (GRCm39)	missense	probably damaging	1.00
R3885:Lrriq1	UTSW	10	103,051,967 (GRCm39)	missense	probably damaging	0.96
R4378:Lrriq1	UTSW	10	103,038,225 (GRCm39)	missense	probably damaging	1.00
R4632:Lrriq1	UTSW	10	103,057,288 (GRCm39)	missense	probably damaging	1.00
R4633:Lrriq1	UTSW	10	103,036,424 (GRCm39)	nonsense	probably null
R4663:Lrriq1	UTSW	10	102,899,273 (GRCm39)	missense	possibly damaging	0.88
R4702:Lrriq1	UTSW	10	103,051,610 (GRCm39)	missense	possibly damaging	0.65
R4793:Lrriq1	UTSW	10	103,006,327 (GRCm39)	missense	probably benign	0.25
R4801:Lrriq1	UTSW	10	103,057,179 (GRCm39)	missense	probably benign	0.02
R4802:Lrriq1	UTSW	10	103,057,179 (GRCm39)	missense	probably benign	0.02
R4815:Lrriq1	UTSW	10	102,980,739 (GRCm39)	missense	probably benign	0.10
R4872:Lrriq1	UTSW	10	103,014,649 (GRCm39)	missense	possibly damaging	0.56
R4877:Lrriq1	UTSW	10	103,069,899 (GRCm39)	missense	possibly damaging	0.88
R4894:Lrriq1	UTSW	10	102,997,613 (GRCm39)	missense	possibly damaging	0.86
R4990:Lrriq1	UTSW	10	103,036,420 (GRCm39)	missense	probably damaging	1.00
R4991:Lrriq1	UTSW	10	103,036,420 (GRCm39)	missense	probably damaging	1.00
R5011:Lrriq1	UTSW	10	103,025,784 (GRCm39)	missense	probably damaging	1.00
R5013:Lrriq1	UTSW	10	103,025,784 (GRCm39)	missense	probably damaging	1.00
R5122:Lrriq1	UTSW	10	103,023,314 (GRCm39)	missense	probably damaging	1.00
R5282:Lrriq1	UTSW	10	103,051,206 (GRCm39)	missense	probably benign	0.01
R5311:Lrriq1	UTSW	10	103,050,448 (GRCm39)	missense	probably damaging	1.00
R5567:Lrriq1	UTSW	10	103,006,457 (GRCm39)	missense	possibly damaging	0.56
R5643:Lrriq1	UTSW	10	103,051,301 (GRCm39)	missense	probably benign	0.00
R5683:Lrriq1	UTSW	10	103,009,236 (GRCm39)	missense	probably damaging	1.00
R5916:Lrriq1	UTSW	10	103,057,243 (GRCm39)	nonsense	probably null
R6008:Lrriq1	UTSW	10	103,006,325 (GRCm39)	missense	probably damaging	1.00
R6022:Lrriq1	UTSW	10	103,051,395 (GRCm39)	missense	possibly damaging	0.90
R6224:Lrriq1	UTSW	10	103,051,618 (GRCm39)	missense	probably damaging	1.00
R6254:Lrriq1	UTSW	10	103,051,312 (GRCm39)	missense	probably benign	0.15
R6311:Lrriq1	UTSW	10	103,009,254 (GRCm39)	missense	probably benign	0.03
R6460:Lrriq1	UTSW	10	103,036,559 (GRCm39)	missense	probably damaging	1.00
R6502:Lrriq1	UTSW	10	103,063,045 (GRCm39)	missense	probably damaging	0.99
R6637:Lrriq1	UTSW	10	103,057,293 (GRCm39)	missense	probably benign	0.06
R6719:Lrriq1	UTSW	10	102,906,977 (GRCm39)	missense	probably damaging	1.00
R6736:Lrriq1	UTSW	10	103,017,750 (GRCm39)	critical splice acceptor site	probably null
R6928:Lrriq1	UTSW	10	103,050,800 (GRCm39)	missense	possibly damaging	0.95
R6991:Lrriq1	UTSW	10	103,023,319 (GRCm39)	missense	probably damaging	1.00
R7174:Lrriq1	UTSW	10	103,060,826 (GRCm39)	missense	probably benign
R7241:Lrriq1	UTSW	10	103,051,834 (GRCm39)	missense	probably damaging	1.00
R7248:Lrriq1	UTSW	10	103,059,611 (GRCm39)	missense	possibly damaging	0.85
R7287:Lrriq1	UTSW	10	103,051,877 (GRCm39)	missense	probably benign	0.00
R7402:Lrriq1	UTSW	10	103,057,185 (GRCm39)	missense	possibly damaging	0.87
R7439:Lrriq1	UTSW	10	103,050,380 (GRCm39)	missense	probably benign	0.21
R7585:Lrriq1	UTSW	10	103,050,807 (GRCm39)	missense	possibly damaging	0.93
R7611:Lrriq1	UTSW	10	103,036,432 (GRCm39)	missense	possibly damaging	0.54
R7634:Lrriq1	UTSW	10	103,036,462 (GRCm39)	missense	probably damaging	1.00
R7767:Lrriq1	UTSW	10	103,051,815 (GRCm39)	missense	probably damaging	0.99
R7809:Lrriq1	UTSW	10	103,051,678 (GRCm39)	missense	probably damaging	0.99
R7910:Lrriq1	UTSW	10	103,051,055 (GRCm39)	nonsense	probably null
R8131:Lrriq1	UTSW	10	103,051,572 (GRCm39)	missense	possibly damaging	0.57
R8156:Lrriq1	UTSW	10	102,992,196 (GRCm39)	critical splice donor site	probably null
R8211:Lrriq1	UTSW	10	103,006,408 (GRCm39)	missense	probably damaging	1.00
R8304:Lrriq1	UTSW	10	103,069,929 (GRCm39)	missense	possibly damaging	0.57
R8487:Lrriq1	UTSW	10	103,050,914 (GRCm39)	missense	probably damaging	0.98
R8500:Lrriq1	UTSW	10	102,882,016 (GRCm39)	missense
R9013:Lrriq1	UTSW	10	103,050,931 (GRCm39)	missense	probably damaging	1.00
R9099:Lrriq1	UTSW	10	103,051,864 (GRCm39)	missense	probably damaging	0.98
R9155:Lrriq1	UTSW	10	103,050,640 (GRCm39)	missense	probably benign	0.03
R9320:Lrriq1	UTSW	10	103,057,144 (GRCm39)	missense	probably benign
R9384:Lrriq1	UTSW	10	103,006,458 (GRCm39)	missense	probably benign	0.00
R9469:Lrriq1	UTSW	10	103,050,761 (GRCm39)	missense	probably benign	0.07
R9585:Lrriq1	UTSW	10	103,051,250 (GRCm39)	missense	probably benign
R9706:Lrriq1	UTSW	10	102,881,902 (GRCm39)	missense
R9780:Lrriq1	UTSW	10	103,025,824 (GRCm39)	missense	probably damaging	1.00
X0026:Lrriq1	UTSW	10	103,051,565 (GRCm39)	nonsense	probably null
Z1088:Lrriq1	UTSW	10	103,038,307 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrriq1	UTSW	10	103,069,946 (GRCm39)	missense	probably damaging	0.99
Z1176:Lrriq1	UTSW	10	103,038,221 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrriq1	UTSW	10	103,038,220 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGTACTATTCTGGAAAAGGCAG -3'
(R):5'- GACCTTTTATATGGGCACTTTTACC -3'

Sequencing Primer
(F):5'- TCTGGAAAAGGCAGAGTTAACCTTC -3'
(R):5'- GGGCACTTTTACCTATTTACACAG -3'

Posted On

2015-01-23