Mutagenetix > Incidental Mutation

Incidental Mutation 'R8304:Lrriq1'

639395

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

067791-MU

Accession Numbers

Essential gene?

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

Stock #

R8304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102881892-103072183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103069929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 29 (N29S)

Ref Sequence

ENSEMBL: ENSMUSP00000020043 (fasta)

Gene Model

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

AlphaFold

Q0P5X1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020043
AA Change: N29S

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020043
Gene: ENSMUSG00000019892
AA Change: N29S

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

possibly damaging
Transcript: ENSMUST00000123364
AA Change: N29S

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119783
Gene: ENSMUSG00000019892
AA Change: N29S

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: N29S

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131419
Gene: ENSMUSG00000019892
AA Change: N29S

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,997,954 (GRCm39)		probably null	Het
Akap11	T	C	14: 78,750,672 (GRCm39)	T572A		Het
Amigo2	A	T	15: 97,144,038 (GRCm39)	L128Q	probably damaging	Het
Ankrd12	A	G	17: 66,291,542 (GRCm39)	I1297T	possibly damaging	Het
Arhgap32	T	A	9: 32,167,233 (GRCm39)	C623*	probably null	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Asb15	C	T	6: 24,559,296 (GRCm39)	P147L	possibly damaging	Het
Caprin1	G	T	2: 103,599,862 (GRCm39)	N604K	probably damaging	Het
Ccnl2	T	C	4: 155,897,679 (GRCm39)	F113L	probably benign	Het
Cltc	C	T	11: 86,616,087 (GRCm39)	R393H	probably benign	Het
Cul4a	G	A	8: 13,177,727 (GRCm39)	C289Y	possibly damaging	Het
Cyp4a29	T	A	4: 115,111,653 (GRCm39)	F477I	probably damaging	Het
Dapk2	C	T	9: 66,139,027 (GRCm39)	A116V	possibly damaging	Het
Ddx60	T	C	8: 62,451,803 (GRCm39)	I1231T	possibly damaging	Het
Eif5b	A	G	1: 38,084,774 (GRCm39)	I874V	probably benign	Het
Eral1	A	T	11: 77,966,828 (GRCm39)	S196T	probably damaging	Het
Erc2	T	G	14: 27,375,122 (GRCm39)	D113E	probably damaging	Het
Frmpd2	A	G	14: 33,274,066 (GRCm39)	I1103V	possibly damaging	Het
Galm	A	G	17: 80,490,766 (GRCm39)	T308A	probably damaging	Het
Helz2	A	T	2: 180,871,950 (GRCm39)	N2650K	probably benign	Het
Herc2	A	G	7: 55,809,186 (GRCm39)	D2562G	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Hspbap1	T	A	16: 35,607,695 (GRCm39)	L67*	probably null	Het
Irx3	T	A	8: 92,526,834 (GRCm39)	D290V	probably damaging	Het
Kcns1	A	T	2: 164,010,022 (GRCm39)	Y246N	probably damaging	Het
Kidins220	A	G	12: 25,107,127 (GRCm39)	T1557A	probably benign	Het
Mmp24	T	C	2: 155,641,759 (GRCm39)	F196L	possibly damaging	Het
Mroh2b	T	C	15: 4,955,119 (GRCm39)	V704A	probably damaging	Het
Mst1	A	G	9: 107,958,803 (GRCm39)	M112V	probably benign	Het
Myh8	C	A	11: 67,195,162 (GRCm39)	H1659N	possibly damaging	Het
Nlgn1	C	T	3: 26,187,534 (GRCm39)	C117Y	probably damaging	Het
Opa1	C	T	16: 29,416,489 (GRCm39)	T237M	possibly damaging	Het
Or2r2	C	T	6: 42,463,672 (GRCm39)	V152I	probably benign	Het
Or51f5	A	G	7: 102,423,917 (GRCm39)	Y62C	possibly damaging	Het
Or5v1	A	T	17: 37,810,261 (GRCm39)	T240S	probably damaging	Het
Or8b57	A	T	9: 40,003,650 (GRCm39)	I204N	probably damaging	Het
P3h1	C	T	4: 119,104,402 (GRCm39)	T641M	probably damaging	Het
Pak5	T	C	2: 135,940,203 (GRCm39)	H537R	probably benign	Het
Ppp1r12b	A	T	1: 134,824,101 (GRCm39)	L174Q	possibly damaging	Het
Prkg1	A	G	19: 30,701,584 (GRCm39)	V326A	possibly damaging	Het
Psmb3	T	A	11: 97,601,995 (GRCm39)	C122S	probably benign	Het
Sh3bgrl3	C	A	4: 133,855,312 (GRCm39)	A45S	probably benign	Het
Slc25a47	T	C	12: 108,821,868 (GRCm39)	V219A	possibly damaging	Het
Slfn9	A	C	11: 82,873,605 (GRCm39)	S433A	probably benign	Het
Spata13	A	T	14: 60,993,957 (GRCm39)	R1136S	possibly damaging	Het
Stab1	C	A	14: 30,870,911 (GRCm39)	A1313S	probably benign	Het
Stim1	G	A	7: 102,084,688 (GRCm39)	A547T	possibly damaging	Het
Taf5l	A	T	8: 124,730,251 (GRCm39)	I146N	probably benign	Het
Tbc1d12	A	T	19: 38,825,824 (GRCm39)	E225V	possibly damaging	Het
Tesc	T	C	5: 118,194,495 (GRCm39)	Y135H	probably benign	Het
Tfg	T	C	16: 56,521,581 (GRCm39)	E145G	possibly damaging	Het
Tg	T	A	15: 66,565,109 (GRCm39)	C1150*	probably null	Het
Tmtc1	T	C	6: 148,172,883 (GRCm39)	N616S	probably damaging	Het
Trpm7	A	T	2: 126,639,797 (GRCm39)	W1600R	probably damaging	Het
Ttc17	A	T	2: 94,199,526 (GRCm39)		probably benign	Het
Zfand1	A	T	3: 10,413,615 (GRCm39)	L24*	probably null	Het
Zfp282	AGCGGCGGCGGCGGCGGC	AGCGGCGGCGGCGGC	6: 47,881,722 (GRCm39)		probably benign	Het
Zfp770	A	C	2: 114,027,891 (GRCm39)	F59L	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
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
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'- ACCTGAGAGTATATGGGTAGCACAG -3'
(R):5'- AGTGGGTCATGTGACAAATTTGAAC -3'

Sequencing Primer
(F):5'- ATATGGGTAGCACAGATGGTTC -3'
(R):5'- GGTCATGTGACAAATTTGAACCCATG -3'

Posted On

2020-07-28