Mutagenetix > Incidental Mutation

Incidental Mutation 'R4663:Lrriq1'

353025

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

041921-MU

Accession Numbers

Essential gene?

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

Stock #

R4663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102881892-103072183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102899273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1656 (H1656R)

Ref Sequence

ENSEMBL: ENSMUSP00000131419 (fasta)

Gene Model

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

AlphaFold

Q0P5X1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166240
AA Change: H1656R

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131419
Gene: ENSMUSG00000019892
AA Change: H1656R

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

Predicted Effect

unknown
Transcript: ENSMUST00000218841
AA Change: H103R

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqr	A	T	2: 113,992,147 (GRCm39)	Y76*	probably null	Het
Armc5	C	A	7: 127,837,717 (GRCm39)	A140E	probably benign	Het
Auts2	T	C	5: 131,468,476 (GRCm39)	H947R	probably damaging	Het
Bag2	T	C	1: 33,786,074 (GRCm39)	T83A	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bean1	A	G	8: 104,937,799 (GRCm39)	Y126C	probably damaging	Het
Cars1	T	C	7: 143,129,697 (GRCm39)	E330G	probably damaging	Het
Ccdc40	A	G	11: 119,122,332 (GRCm39)	I45V	probably benign	Het
Cd320	G	A	17: 34,067,152 (GRCm39)	G214R	probably null	Het
Ckm	G	A	7: 19,153,419 (GRCm39)	V237M	probably damaging	Het
Cplane1	T	C	15: 8,247,939 (GRCm39)	V1496A	probably benign	Het
Cspg4	T	C	9: 56,793,960 (GRCm39)	V565A	possibly damaging	Het
Dnaaf10	T	C	11: 17,182,853 (GRCm39)	V338A	probably benign	Het
Eddm13	T	G	7: 6,261,624 (GRCm39)	I35S	possibly damaging	Het
Ephb6	A	G	6: 41,594,799 (GRCm39)	Y638C	probably damaging	Het
Fat2	G	C	11: 55,187,039 (GRCm39)	S1269*	probably null	Het
Fbxo3	T	C	2: 103,883,820 (GRCm39)	V348A	probably damaging	Het
Gas6	G	A	8: 13,520,254 (GRCm39)	P478L	probably damaging	Het
Herc1	T	C	9: 66,340,660 (GRCm39)	S1670P	probably damaging	Het
Hnrnpk	C	A	13: 58,542,331 (GRCm39)	R281L	probably damaging	Het
Ifih1	C	A	2: 62,439,563 (GRCm39)	C488F	probably benign	Het
Ift172	T	C	5: 31,441,559 (GRCm39)	K192E	probably benign	Het
Ighv5-9	T	A	12: 113,625,440 (GRCm39)	Q101L	probably benign	Het
Igkv3-2	G	T	6: 70,675,863 (GRCm39)	M57I	probably benign	Het
Insyn2a	A	T	7: 134,500,877 (GRCm39)	Y409*	probably null	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
L3mbtl3	T	C	10: 26,213,715 (GRCm39)	Y237C	unknown	Het
Lats1	G	A	10: 7,588,347 (GRCm39)	C988Y	probably damaging	Het
Lgals3	T	A	14: 47,619,079 (GRCm39)		probably null	Het
Lrrc3b	G	T	14: 15,358,220 (GRCm38)	H129N	probably benign	Het
Lypd6	T	G	2: 50,063,623 (GRCm39)	Y43*	probably null	Het
Mettl25b	A	G	3: 87,835,055 (GRCm39)	S82P	probably damaging	Het
Mical2	A	G	7: 111,927,884 (GRCm39)	D674G	possibly damaging	Het
Msi1	G	A	5: 115,588,334 (GRCm39)	R284Q	probably damaging	Het
Mybpc2	T	C	7: 44,155,066 (GRCm39)	E947G	probably damaging	Het
Nat14	T	A	7: 4,927,446 (GRCm39)	L206Q	probably damaging	Het
Nup88	A	T	11: 70,856,672 (GRCm39)		probably null	Het
Or11g27	A	T	14: 50,771,061 (GRCm39)	Y64F	probably damaging	Het
Or4k15	A	G	14: 50,364,939 (GRCm39)	R302G	probably benign	Het
Or8g19	A	T	9: 39,056,145 (GRCm39)	I250F	probably damaging	Het
Pdcl	T	C	2: 37,245,778 (GRCm39)	E75G	probably damaging	Het
Phf14	A	G	6: 11,953,421 (GRCm39)	I387V	possibly damaging	Het
Phf3	G	A	1: 30,860,296 (GRCm39)	R845W	probably damaging	Het
Pm20d1	T	C	1: 131,726,340 (GRCm39)	I59T	probably damaging	Het
Prkd1	C	T	12: 50,466,631 (GRCm39)		probably null	Het
Psmb2	T	C	4: 126,571,558 (GRCm39)	L4P	probably damaging	Het
Pttg1	T	A	11: 43,315,677 (GRCm39)	K46*	probably null	Het
Ryr2	T	C	13: 11,764,395 (GRCm39)	H1401R	possibly damaging	Het
Septin4	T	A	11: 87,458,429 (GRCm39)	Y268N	probably damaging	Het
Sh3d19	G	A	3: 86,030,570 (GRCm39)	D696N	probably benign	Het
Slc16a2	T	C	X: 102,751,585 (GRCm39)	T274A	probably benign	Het
Slc26a6	G	A	9: 108,735,106 (GRCm39)	A335T	probably damaging	Het
Slc49a3	T	C	5: 108,590,011 (GRCm39)	M464V	probably benign	Het
Slc6a5	C	A	7: 49,588,146 (GRCm39)	Y493*	probably null	Het
Slf1	A	T	13: 77,274,723 (GRCm39)	S37R	probably damaging	Het
Smoc1	G	A	12: 81,214,376 (GRCm39)	G264S	probably damaging	Het
Snapc4	T	C	2: 26,264,193 (GRCm39)	E280G	possibly damaging	Het
Snx25	G	A	8: 46,488,616 (GRCm39)	T913M	probably damaging	Het
Snx7	T	C	3: 117,594,528 (GRCm39)	T408A	probably benign	Het
Spdya	T	A	17: 71,885,339 (GRCm39)	S264R	probably benign	Het
Spg11	A	T	2: 121,928,580 (GRCm39)		probably null	Het
Suz12	T	A	11: 79,904,350 (GRCm39)	L230Q	probably damaging	Het
Szt2	A	G	4: 118,234,881 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,689,005 (GRCm39)	R2194L	probably damaging	Het
Tmed8	T	A	12: 87,221,005 (GRCm39)	I194F	probably damaging	Het
Tmem79	T	A	3: 88,240,751 (GRCm39)	T66S	probably damaging	Het
Trappc1	T	A	11: 69,216,337 (GRCm39)	S118T	probably benign	Het
Ttn	C	T	2: 76,569,225 (GRCm39)	V27223I	probably benign	Het
Ttn	T	C	2: 76,606,839 (GRCm39)	T18024A	probably damaging	Het
Vmn2r15	C	T	5: 109,441,940 (GRCm39)	M164I	probably benign	Het
Vmn2r53	T	A	7: 12,334,901 (GRCm39)	Y253F	probably benign	Het
Zfand6	C	T	7: 84,267,093 (GRCm39)	R163H	probably benign	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
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'- TGGAGGAGTGAAGCAGCTTC -3'
(R):5'- GGTAATGTGAGCCGCATTCAG -3'

Sequencing Primer
(F):5'- ACACTGATGCTGTTACATTTACAAG -3'
(R):5'- TGTGAGCCGCATTCAGAAAATG -3'

Posted On

2015-10-08