Mutagenetix > Incidental Mutation

Incidental Mutation 'R1830:Lrriq1'

207250

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

039857-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102881892-103072183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102997620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 1332 (T1332P)

Ref Sequence

ENSEMBL: ENSMUSP00000131419 (fasta)

Gene Model

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

AlphaFold

Q0P5X1

Predicted Effect

probably benign
Transcript: ENSMUST00000166240
AA Change: T1332P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131419
Gene: ENSMUSG00000019892
AA Change: T1332P

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,350 (GRCm39)	S738P	probably benign	Het
Abi3bp	C	A	16: 56,408,348 (GRCm39)	P261Q	probably damaging	Het
Adam19	A	G	11: 46,018,105 (GRCm39)	N389S	probably damaging	Het
Adgrv1	A	T	13: 81,637,196 (GRCm39)	V3415D	possibly damaging	Het
Ankrd33	A	T	15: 101,017,432 (GRCm39)	I282F	probably damaging	Het
Arhgap39	C	T	15: 76,619,383 (GRCm39)	V734M	probably damaging	Het
Arsg	T	C	11: 109,454,100 (GRCm39)		probably null	Het
Atp8b4	C	T	2: 126,245,301 (GRCm39)	G283R	probably benign	Het
B3galnt2	T	G	13: 14,166,119 (GRCm39)	L338*	probably null	Het
Cdc14a	A	T	3: 116,216,296 (GRCm39)	Y1*	probably null	Het
Ceacam16	T	C	7: 19,592,803 (GRCm39)	E35G	possibly damaging	Het
Cfap46	T	A	7: 139,220,323 (GRCm39)	D1244V	possibly damaging	Het
Chordc1	T	C	9: 18,223,274 (GRCm39)	Y245H	probably damaging	Het
Col6a6	C	A	9: 105,579,469 (GRCm39)	V1919F	probably damaging	Het
Colgalt1	T	C	8: 72,075,781 (GRCm39)	V476A	probably damaging	Het
Cped1	T	C	6: 22,237,727 (GRCm39)	C948R	probably damaging	Het
Cyfip2	T	C	11: 46,089,846 (GRCm39)	D1189G	probably damaging	Het
Cyp27b1	T	C	10: 126,884,952 (GRCm39)	Y72H	possibly damaging	Het
Dagla	A	G	19: 10,248,378 (GRCm39)	M94T	probably benign	Het
Dip2a	A	G	10: 76,153,797 (GRCm39)	S178P	probably damaging	Het
Dlec1	T	C	9: 118,967,858 (GRCm39)	V1220A	probably benign	Het
Dpysl2	T	C	14: 67,105,840 (GRCm39)		probably benign	Het
E2f6	T	C	12: 16,868,884 (GRCm39)	V69A	probably benign	Het
Fat3	T	C	9: 15,826,636 (GRCm39)	T4439A	probably benign	Het
Fn1	T	C	1: 71,663,418 (GRCm39)	I1023M	probably damaging	Het
Gabrr2	G	A	4: 33,077,481 (GRCm39)	V83M	probably damaging	Het
Gfral	T	C	9: 76,100,485 (GRCm39)	N318D	probably benign	Het
Gm5611	A	T	9: 16,942,073 (GRCm39)		noncoding transcript	Het
Gpat3	A	T	5: 101,041,046 (GRCm39)	M369L	probably benign	Het
Grik5	T	C	7: 24,745,726 (GRCm39)	D449G	possibly damaging	Het
Gucy2g	T	A	19: 55,211,362 (GRCm39)	T623S	possibly damaging	Het
H2-T22	T	C	17: 36,352,434 (GRCm39)	T164A	probably benign	Het
Herc1	T	A	9: 66,404,881 (GRCm39)	C4484S	possibly damaging	Het
Hira	T	C	16: 18,766,164 (GRCm39)	S659P	probably damaging	Het
Hoxa7	T	C	6: 52,194,307 (GRCm39)	T27A	possibly damaging	Het
Hoxd1	T	C	2: 74,593,866 (GRCm39)	S141P	probably damaging	Het
Kank1	C	A	19: 25,388,396 (GRCm39)	Q690K	probably benign	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kifbp	T	C	10: 62,395,106 (GRCm39)	Y512C	probably damaging	Het
Lepr	A	C	4: 101,592,874 (GRCm39)	Y163S	probably damaging	Het
Leprotl1	T	C	8: 34,607,922 (GRCm39)	I29V	probably benign	Het
Mrps15	A	G	4: 125,949,200 (GRCm39)	K223E	probably damaging	Het
Mrps7	T	A	11: 115,497,811 (GRCm39)	N225K	probably benign	Het
Nav3	T	A	10: 109,659,184 (GRCm39)	D811V	probably damaging	Het
Ndst3	T	A	3: 123,342,587 (GRCm39)	R741S	probably damaging	Het
Nos3	T	C	5: 24,575,131 (GRCm39)	Y356H	probably damaging	Het
Nxpe3	A	G	16: 55,686,444 (GRCm39)	V188A	probably damaging	Het
Or13n4	T	C	7: 106,423,317 (GRCm39)	R139G	probably benign	Het
Or5p50	T	A	7: 107,422,578 (GRCm39)	I33F	probably benign	Het
Or8j3b	T	C	2: 86,205,487 (GRCm39)	K90E	possibly damaging	Het
Pdia4	A	T	6: 47,773,695 (GRCm39)	C551*	probably null	Het
Pex13	A	G	11: 23,605,513 (GRCm39)	F239S	probably damaging	Het
Pigq	A	G	17: 26,153,980 (GRCm39)	M273T	probably benign	Het
Plppr2	C	T	9: 21,859,047 (GRCm39)	P388L	probably damaging	Het
Polr3b	C	T	10: 84,528,786 (GRCm39)	Q737*	probably null	Het
Ppfibp1	T	C	6: 146,923,757 (GRCm39)		probably null	Het
Ppfibp2	C	A	7: 107,236,504 (GRCm39)	D17E	probably damaging	Het
Pramel34	A	T	5: 93,785,545 (GRCm39)	I245K	probably benign	Het
Prr35	T	C	17: 26,165,691 (GRCm39)	D532G	possibly damaging	Het
Ptpn13	A	G	5: 103,691,325 (GRCm39)	D1064G	probably benign	Het
Qtrt2	A	T	16: 43,692,018 (GRCm39)	S168T	probably damaging	Het
Rbp3	T	C	14: 33,676,601 (GRCm39)	V183A	probably benign	Het
Shprh	T	C	10: 11,062,655 (GRCm39)		probably null	Het
Slc39a10	T	C	1: 46,875,230 (GRCm39)	H24R	probably damaging	Het
Slc7a13	A	T	4: 19,819,046 (GRCm39)	H82L	probably benign	Het
Sptbn2	A	G	19: 4,782,569 (GRCm39)	I502V	probably benign	Het
Syne2	C	T	12: 76,156,636 (GRCm39)	R6811C	probably damaging	Het
Syt12	A	G	19: 4,506,911 (GRCm39)	V78A	probably benign	Het
Tbck	T	A	3: 132,543,772 (GRCm39)	D874E	probably benign	Het
Tesc	A	T	5: 118,184,394 (GRCm39)	I25L	probably damaging	Het
Thoc5	T	G	11: 4,864,608 (GRCm39)	D351E	probably benign	Het
Tor1aip1	A	T	1: 155,883,308 (GRCm39)	M180K	probably damaging	Het
Trps1	T	C	15: 50,524,532 (GRCm39)	S842G	probably damaging	Het
Unc79	A	T	12: 103,100,737 (GRCm39)	T1858S	probably damaging	Het
Vmn1r193	T	C	13: 22,403,561 (GRCm39)	T144A	probably benign	Het
Vwa8	T	C	14: 79,318,576 (GRCm39)	F1046S	probably benign	Het
Wdr26	A	T	1: 181,019,340 (GRCm39)	W346R	probably damaging	Het
Zfp740	T	A	15: 102,116,336 (GRCm39)	V22E	probably damaging	Het
Zw10	C	A	9: 48,981,041 (GRCm39)	S480R	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
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
R2897:Lrriq1	UTSW	10	103,063,111 (GRCm39)	missense	probably damaging	0.99
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'- AGCCTGTAAATCCAAGCAAGTG -3'
(R):5'- AACACCATATTTTCAGCATCTTATCA -3'

Sequencing Primer
(F):5'- TCCAAGCAAGTGTGAAATAAACTC -3'
(R):5'- GCACAATGGCGTAGTTAC -3'

Posted On

2014-06-23