Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Lrriq1'

576833

Institutional Source

Beutler Lab

Gene Symbol

Lrriq1

Ensembl Gene

ENSMUSG00000019892

Gene Name

leucine-rich repeats and IQ motif containing 1

Synonyms

LOC380658, 4930503E15Rik, Gm1557

MMRRC Submission

045515-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103046031-103236322 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103214519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 791 (M791V)

Ref Sequence

ENSEMBL: ENSMUSP00000020043 (fasta)

Gene Model

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

AlphaFold

Q0P5X1

Predicted Effect

probably benign
Transcript: ENSMUST00000020043
AA Change: M791V

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020043
Gene: ENSMUSG00000019892
AA Change: M791V

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 benign
Transcript: ENSMUST00000123364

SMART Domains

Protein: ENSMUSP00000119783
Gene: ENSMUSG00000019892

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: M791V

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131419
Gene: ENSMUSG00000019892
AA Change: M791V

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530003J23Rik	G	A	10: 117,238,697 (GRCm38)		probably benign	Het
Acacb	T	C	5: 114,195,642 (GRCm38)	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069 (GRCm38)	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909 (GRCm38)	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073 (GRCm38)	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436 (GRCm38)	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931 (GRCm38)	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256 (GRCm38)	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821 (GRCm38)	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485 (GRCm38)	V368M	probably benign	Het
Bcl3	T	C	7: 19,822,611 (GRCm38)	T23A	probably benign	Het
Bpifb5	A	G	2: 154,228,933 (GRCm38)	K215E	possibly damaging	Het
Coa4	T	A	7: 100,539,271 (GRCm38)	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536 (GRCm38)		probably null	Het
Dnaaf5	T	G	5: 139,166,113 (GRCm38)	C506W	probably damaging	Het
Dock3	A	G	9: 107,023,732 (GRCm38)	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326 (GRCm38)	N1024S	possibly damaging	Het
Dsp	A	G	13: 38,195,449 (GRCm38)	T2057A	probably benign	Het
Dsp	T	C	13: 38,176,502 (GRCm38)		probably null	Het
Dync1h1	T	G	12: 110,636,453 (GRCm38)	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637 (GRCm38)	D1192A	probably benign	Het
Epn2	A	T	11: 61,546,848 (GRCm38)		probably benign	Het
Exoc1	T	A	5: 76,545,348 (GRCm38)	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680 (GRCm38)	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645 (GRCm38)	V934E	probably damaging	Het
Fmn1	A	T	2: 113,441,611 (GRCm38)	Q108L	unknown	Het
Gcc2	A	G	10: 58,256,901 (GRCm38)	T48A	probably benign	Het
Gm438	T	C	4: 144,777,762 (GRCm38)	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391 (GRCm38)	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940 (GRCm38)	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269 (GRCm38)	T341S	probably benign	Het
Lamb3	C	A	1: 193,332,166 (GRCm38)	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,440,284 (GRCm38)	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257 (GRCm38)	S145P	possibly damaging	Het
Lyg2	A	G	1: 37,911,137 (GRCm38)	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956 (GRCm38)	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010 (GRCm38)	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839 (GRCm38)	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900 (GRCm38)	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383 (GRCm38)	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm38)		probably benign	Het
Phf21b	A	G	15: 84,804,903 (GRCm38)	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550 (GRCm38)	P24S	probably benign	Het
Plekhg3	A	G	12: 76,576,485 (GRCm38)	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,113,935 (GRCm38)	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399 (GRCm38)	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433 (GRCm38)	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819 (GRCm38)	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788 (GRCm38)	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028 (GRCm38)	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046 (GRCm38)		probably null	Het
Sgsm1	T	C	5: 113,274,321 (GRCm38)	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041 (GRCm38)	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,762,818 (GRCm38)	Y520C	probably damaging	Het
Smc5	A	G	19: 23,242,700 (GRCm38)	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041 (GRCm38)	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518 (GRCm38)	F350V	probably benign	Het
Sucnr1	A	G	3: 60,086,696 (GRCm38)	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615 (GRCm38)	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064 (GRCm38)	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987 (GRCm38)	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986 (GRCm38)		probably null	Het
Taok3	C	A	5: 117,250,909 (GRCm38)	Q460K	probably damaging	Het
Twf2	A	G	9: 106,214,398 (GRCm38)	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932 (GRCm38)	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014 (GRCm38)	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113 (GRCm38)	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856 (GRCm38)	S2833P		Het
Xrn1	T	C	9: 96,051,629 (GRCm38)	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397 (GRCm38)	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870 (GRCm38)	R327*	probably null	Het

Other mutations in Lrriq1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Lrriq1	APN	10	103,161,896 (GRCm38)	missense	probably damaging	0.99
IGL01523:Lrriq1	APN	10	103,218,116 (GRCm38)	nonsense	probably null
IGL01637:Lrriq1	APN	10	103,215,628 (GRCm38)	missense	probably benign
IGL02019:Lrriq1	APN	10	103,178,800 (GRCm38)	missense	probably benign	0.02
IGL02153:Lrriq1	APN	10	103,170,479 (GRCm38)	missense	probably benign	0.01
IGL02341:Lrriq1	APN	10	103,224,941 (GRCm38)	missense	probably benign	0.03
IGL02343:Lrriq1	APN	10	103,234,163 (GRCm38)	splice site	probably benign
IGL02408:Lrriq1	APN	10	103,146,281 (GRCm38)	missense	probably benign	0.17
IGL02431:Lrriq1	APN	10	103,200,639 (GRCm38)	missense	probably damaging	1.00
IGL02540:Lrriq1	APN	10	103,215,019 (GRCm38)	missense	probably benign	0.02
IGL02558:Lrriq1	APN	10	103,146,283 (GRCm38)	missense	probably damaging	1.00
IGL02613:Lrriq1	APN	10	103,144,548 (GRCm38)	missense	probably damaging	0.99
IGL02642:Lrriq1	APN	10	103,221,461 (GRCm38)	critical splice acceptor site	probably null
IGL03027:Lrriq1	APN	10	103,227,196 (GRCm38)	missense	probably benign	0.35
PIT4362001:Lrriq1	UTSW	10	103,071,194 (GRCm38)	missense	probably benign	0.26
R0050:Lrriq1	UTSW	10	103,068,931 (GRCm38)	missense	probably damaging	0.99
R0050:Lrriq1	UTSW	10	103,068,931 (GRCm38)	missense	probably damaging	0.99
R0068:Lrriq1	UTSW	10	103,063,418 (GRCm38)	missense	probably benign	0.02
R0068:Lrriq1	UTSW	10	103,063,418 (GRCm38)	missense	probably benign	0.02
R0124:Lrriq1	UTSW	10	103,170,420 (GRCm38)	critical splice donor site	probably null
R0244:Lrriq1	UTSW	10	103,215,773 (GRCm38)	missense	probably damaging	0.98
R0323:Lrriq1	UTSW	10	103,221,289 (GRCm38)	missense	possibly damaging	0.91
R0515:Lrriq1	UTSW	10	103,068,968 (GRCm38)	splice site	probably null
R0522:Lrriq1	UTSW	10	103,161,777 (GRCm38)	missense	probably damaging	0.99
R0701:Lrriq1	UTSW	10	103,234,044 (GRCm38)	missense	probably benign
R1220:Lrriq1	UTSW	10	103,071,129 (GRCm38)	missense	probably benign	0.05
R1261:Lrriq1	UTSW	10	103,234,137 (GRCm38)	missense	possibly damaging	0.87
R1262:Lrriq1	UTSW	10	103,234,137 (GRCm38)	missense	possibly damaging	0.87
R1451:Lrriq1	UTSW	10	103,202,515 (GRCm38)	splice site	probably benign
R1642:Lrriq1	UTSW	10	103,214,456 (GRCm38)	missense	probably benign	0.13
R1643:Lrriq1	UTSW	10	103,214,824 (GRCm38)	missense	probably benign	0.00
R1647:Lrriq1	UTSW	10	103,170,648 (GRCm38)	nonsense	probably null
R1830:Lrriq1	UTSW	10	103,161,759 (GRCm38)	missense	probably benign
R1843:Lrriq1	UTSW	10	103,227,173 (GRCm38)	splice site	probably null
R2128:Lrriq1	UTSW	10	103,214,857 (GRCm38)	missense	probably benign	0.01
R2129:Lrriq1	UTSW	10	103,214,857 (GRCm38)	missense	probably benign	0.01
R2199:Lrriq1	UTSW	10	103,068,913 (GRCm38)	missense	probably damaging	1.00
R2354:Lrriq1	UTSW	10	103,189,987 (GRCm38)	missense	probably damaging	1.00
R2495:Lrriq1	UTSW	10	103,202,381 (GRCm38)	missense	probably damaging	0.97
R2897:Lrriq1	UTSW	10	103,227,250 (GRCm38)	missense	probably damaging	0.99
R2898:Lrriq1	UTSW	10	103,227,250 (GRCm38)	missense	probably damaging	0.99
R2922:Lrriq1	UTSW	10	103,214,675 (GRCm38)	missense	probably benign	0.00
R2939:Lrriq1	UTSW	10	103,144,889 (GRCm38)	missense	probably damaging	0.98
R2965:Lrriq1	UTSW	10	103,214,900 (GRCm38)	missense	probably benign	0.07
R2966:Lrriq1	UTSW	10	103,214,900 (GRCm38)	missense	probably benign	0.07
R3081:Lrriq1	UTSW	10	103,144,889 (GRCm38)	missense	probably damaging	0.98
R3115:Lrriq1	UTSW	10	103,170,433 (GRCm38)	missense	probably benign	0.00
R3745:Lrriq1	UTSW	10	103,170,856 (GRCm38)	missense	probably damaging	0.99
R3813:Lrriq1	UTSW	10	103,216,111 (GRCm38)	missense	probably damaging	1.00
R3814:Lrriq1	UTSW	10	103,216,111 (GRCm38)	missense	probably damaging	1.00
R3885:Lrriq1	UTSW	10	103,216,106 (GRCm38)	missense	probably damaging	0.96
R4378:Lrriq1	UTSW	10	103,202,364 (GRCm38)	missense	probably damaging	1.00
R4632:Lrriq1	UTSW	10	103,221,427 (GRCm38)	missense	probably damaging	1.00
R4633:Lrriq1	UTSW	10	103,200,563 (GRCm38)	nonsense	probably null
R4663:Lrriq1	UTSW	10	103,063,412 (GRCm38)	missense	possibly damaging	0.88
R4702:Lrriq1	UTSW	10	103,215,749 (GRCm38)	missense	possibly damaging	0.65
R4793:Lrriq1	UTSW	10	103,170,466 (GRCm38)	missense	probably benign	0.25
R4801:Lrriq1	UTSW	10	103,221,318 (GRCm38)	missense	probably benign	0.02
R4802:Lrriq1	UTSW	10	103,221,318 (GRCm38)	missense	probably benign	0.02
R4815:Lrriq1	UTSW	10	103,144,878 (GRCm38)	missense	probably benign	0.10
R4872:Lrriq1	UTSW	10	103,178,788 (GRCm38)	missense	possibly damaging	0.56
R4877:Lrriq1	UTSW	10	103,234,038 (GRCm38)	missense	possibly damaging	0.88
R4894:Lrriq1	UTSW	10	103,161,752 (GRCm38)	missense	possibly damaging	0.86
R4990:Lrriq1	UTSW	10	103,200,559 (GRCm38)	missense	probably damaging	1.00
R4991:Lrriq1	UTSW	10	103,200,559 (GRCm38)	missense	probably damaging	1.00
R5011:Lrriq1	UTSW	10	103,189,923 (GRCm38)	missense	probably damaging	1.00
R5013:Lrriq1	UTSW	10	103,189,923 (GRCm38)	missense	probably damaging	1.00
R5122:Lrriq1	UTSW	10	103,187,453 (GRCm38)	missense	probably damaging	1.00
R5282:Lrriq1	UTSW	10	103,215,345 (GRCm38)	missense	probably benign	0.01
R5311:Lrriq1	UTSW	10	103,214,587 (GRCm38)	missense	probably damaging	1.00
R5567:Lrriq1	UTSW	10	103,170,596 (GRCm38)	missense	possibly damaging	0.56
R5643:Lrriq1	UTSW	10	103,215,440 (GRCm38)	missense	probably benign	0.00
R5683:Lrriq1	UTSW	10	103,173,375 (GRCm38)	missense	probably damaging	1.00
R5916:Lrriq1	UTSW	10	103,221,382 (GRCm38)	nonsense	probably null
R6008:Lrriq1	UTSW	10	103,170,464 (GRCm38)	missense	probably damaging	1.00
R6022:Lrriq1	UTSW	10	103,215,534 (GRCm38)	missense	possibly damaging	0.90
R6224:Lrriq1	UTSW	10	103,215,757 (GRCm38)	missense	probably damaging	1.00
R6254:Lrriq1	UTSW	10	103,215,451 (GRCm38)	missense	probably benign	0.15
R6311:Lrriq1	UTSW	10	103,173,393 (GRCm38)	missense	probably benign	0.03
R6460:Lrriq1	UTSW	10	103,200,698 (GRCm38)	missense	probably damaging	1.00
R6502:Lrriq1	UTSW	10	103,227,184 (GRCm38)	missense	probably damaging	0.99
R6637:Lrriq1	UTSW	10	103,221,432 (GRCm38)	missense	probably benign	0.06
R6719:Lrriq1	UTSW	10	103,071,116 (GRCm38)	missense	probably damaging	1.00
R6736:Lrriq1	UTSW	10	103,181,889 (GRCm38)	critical splice acceptor site	probably null
R6928:Lrriq1	UTSW	10	103,214,939 (GRCm38)	missense	possibly damaging	0.95
R6991:Lrriq1	UTSW	10	103,187,458 (GRCm38)	missense	probably damaging	1.00
R7174:Lrriq1	UTSW	10	103,224,965 (GRCm38)	missense	probably benign
R7241:Lrriq1	UTSW	10	103,215,973 (GRCm38)	missense	probably damaging	1.00
R7248:Lrriq1	UTSW	10	103,223,750 (GRCm38)	missense	possibly damaging	0.85
R7287:Lrriq1	UTSW	10	103,216,016 (GRCm38)	missense	probably benign	0.00
R7402:Lrriq1	UTSW	10	103,221,324 (GRCm38)	missense	possibly damaging	0.87
R7585:Lrriq1	UTSW	10	103,214,946 (GRCm38)	missense	possibly damaging	0.93
R7611:Lrriq1	UTSW	10	103,200,571 (GRCm38)	missense	possibly damaging	0.54
R7634:Lrriq1	UTSW	10	103,200,601 (GRCm38)	missense	probably damaging	1.00
R7767:Lrriq1	UTSW	10	103,215,954 (GRCm38)	missense	probably damaging	0.99
R7809:Lrriq1	UTSW	10	103,215,817 (GRCm38)	missense	probably damaging	0.99
R7910:Lrriq1	UTSW	10	103,215,194 (GRCm38)	nonsense	probably null
R8131:Lrriq1	UTSW	10	103,215,711 (GRCm38)	missense	possibly damaging	0.57
R8156:Lrriq1	UTSW	10	103,156,335 (GRCm38)	critical splice donor site	probably null
R8211:Lrriq1	UTSW	10	103,170,547 (GRCm38)	missense	probably damaging	1.00
R8304:Lrriq1	UTSW	10	103,234,068 (GRCm38)	missense	possibly damaging	0.57
R8487:Lrriq1	UTSW	10	103,215,053 (GRCm38)	missense	probably damaging	0.98
R8500:Lrriq1	UTSW	10	103,046,155 (GRCm38)	missense
R9013:Lrriq1	UTSW	10	103,215,070 (GRCm38)	missense	probably damaging	1.00
R9099:Lrriq1	UTSW	10	103,216,003 (GRCm38)	missense	probably damaging	0.98
R9155:Lrriq1	UTSW	10	103,214,779 (GRCm38)	missense	probably benign	0.03
R9320:Lrriq1	UTSW	10	103,221,283 (GRCm38)	missense	probably benign
R9384:Lrriq1	UTSW	10	103,170,597 (GRCm38)	missense	probably benign	0.00
R9469:Lrriq1	UTSW	10	103,214,900 (GRCm38)	missense	probably benign	0.07
R9585:Lrriq1	UTSW	10	103,215,389 (GRCm38)	missense	probably benign
R9706:Lrriq1	UTSW	10	103,046,041 (GRCm38)	missense
R9780:Lrriq1	UTSW	10	103,189,963 (GRCm38)	missense	probably damaging	1.00
X0026:Lrriq1	UTSW	10	103,215,704 (GRCm38)	nonsense	probably null
Z1088:Lrriq1	UTSW	10	103,202,446 (GRCm38)	missense	probably damaging	1.00
Z1176:Lrriq1	UTSW	10	103,234,085 (GRCm38)	missense	probably damaging	0.99
Z1176:Lrriq1	UTSW	10	103,202,360 (GRCm38)	missense	probably damaging	1.00
Z1176:Lrriq1	UTSW	10	103,202,359 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCTGGTAAACTCTACTTGAGAAC -3'
(R):5'- CTGATGGTGTCCTGACTTGCTC -3'

Sequencing Primer
(F):5'- GCTCTCTAAAAGGAGACAGTATTTC -3'
(R):5'- GACTTGCTCTGTTTCACAGTTAACAG -3'

Posted On

2019-10-07