Mutagenetix > Incidental Mutation

Incidental Mutation 'R5916:Lrriq1'

461346

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

044113-MU

Accession Numbers

Essential gene?

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

Stock #

R5916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103046031-103236322 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 103221382 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 186 (Q186*)

Ref Sequence

ENSEMBL: ENSMUSP00000131419 (fasta)

Gene Model

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

AlphaFold

Q0P5X1

Predicted Effect

probably null
Transcript: ENSMUST00000020043
AA Change: Q186*

SMART Domains

Protein: ENSMUSP00000020043
Gene: ENSMUSG00000019892
AA Change: Q186*

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 null
Transcript: ENSMUST00000123364
AA Change: Q186*

SMART Domains

Protein: ENSMUSP00000119783
Gene: ENSMUSG00000019892
AA Change: Q186*

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

probably null
Transcript: ENSMUST00000166240
AA Change: Q186*

SMART Domains

Protein: ENSMUSP00000131419
Gene: ENSMUSG00000019892
AA Change: Q186*

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: 99.8%
3x: 99.3%
10x: 97.2%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,326,578 (GRCm38)	T374I	probably damaging	Het
4930563D23Rik	T	A	16: 92,320,671 (GRCm38)	E243V	probably damaging	Het
Aadacl4	A	T	4: 144,622,980 (GRCm38)	N269I	possibly damaging	Het
Abcc1	G	T	16: 14,465,142 (GRCm38)	V1161F	possibly damaging	Het
Adam3	A	T	8: 24,684,539 (GRCm38)		probably null	Het
Agt	A	T	8: 124,563,858 (GRCm38)	S237T	possibly damaging	Het
Ano3	A	T	2: 110,681,836 (GRCm38)	F674L	probably benign	Het
Asb2	G	T	12: 103,323,876 (GRCm38)	A504E	probably damaging	Het
Atp13a1	T	A	8: 69,807,098 (GRCm38)	I1113N	probably damaging	Het
Atxn7l2	T	C	3: 108,205,662 (GRCm38)		probably null	Het
Bambi	A	G	18: 3,511,463 (GRCm38)	T95A	probably benign	Het
Ccdc173	A	T	2: 69,789,462 (GRCm38)	M1K	probably null	Het
Clrn1	T	C	3: 58,846,362 (GRCm38)	T193A	probably benign	Het
Colgalt2	T	A	1: 152,504,122 (GRCm38)	D437E	probably damaging	Het
Dchs1	C	A	7: 105,759,166 (GRCm38)	A1820S	probably damaging	Het
Dnah12	T	A	14: 26,706,918 (GRCm38)	I233N	possibly damaging	Het
Dsc3	T	C	18: 19,987,020 (GRCm38)	N194D	probably damaging	Het
Dync2h1	A	G	9: 7,102,309 (GRCm38)		probably null	Het
Erich3	A	T	3: 154,695,823 (GRCm38)	R36S	probably damaging	Het
Fmnl3	A	T	15: 99,321,828 (GRCm38)	C680S	probably damaging	Het
Focad	T	C	4: 88,357,541 (GRCm38)	L1129P	unknown	Het
Fzd3	G	A	14: 65,202,729 (GRCm38)	T664I	probably benign	Het
Glb1l3	T	C	9: 26,854,736 (GRCm38)	I129V	probably benign	Het
Heatr1	T	C	13: 12,434,471 (GRCm38)	F1950S	probably damaging	Het
Herc6	G	A	6: 57,646,203 (GRCm38)	G597E	probably benign	Het
Hmcn2	T	A	2: 31,396,139 (GRCm38)	V2101D	probably damaging	Het
Il17re	T	A	6: 113,470,123 (GRCm38)	C612S	probably damaging	Het
Il1f9	T	G	2: 24,192,794 (GRCm38)	*194E	probably null	Het
Junb	T	C	8: 84,977,876 (GRCm38)	Y185C	probably benign	Het
Lrrn2	T	A	1: 132,937,800 (GRCm38)	V201E	probably damaging	Het
Ly6l	A	T	15: 75,451,178 (GRCm38)	T68S	probably benign	Het
March1	G	T	8: 66,387,111 (GRCm38)	R182L	possibly damaging	Het
Megf6	A	G	4: 154,249,425 (GRCm38)		probably null	Het
Mga	T	A	2: 119,964,312 (GRCm38)	S2708T	probably benign	Het
Mx1	T	C	16: 97,451,733 (GRCm38)	T396A	probably benign	Het
Naip5	A	C	13: 100,222,701 (GRCm38)	S676A	probably benign	Het
Npepl1	G	T	2: 174,121,544 (GRCm38)	W456C	probably benign	Het
Ntrk2	A	G	13: 58,808,729 (GRCm38)	M1V	probably null	Het
Nufip1	T	C	14: 76,134,900 (GRCm38)	*485Q	probably null	Het
Ocln	T	G	13: 100,506,179 (GRCm38)	D216A	possibly damaging	Het
Olfr108	C	T	17: 37,445,679 (GRCm38)	L53F	probably benign	Het
Olfr1308	A	G	2: 111,960,830 (GRCm38)	M81T	probably damaging	Het
Olfr417	A	T	1: 174,369,132 (GRCm38)	T72S	probably damaging	Het
Olfr544	G	A	7: 102,484,379 (GRCm38)	S247F	probably damaging	Het
Papd4	T	C	13: 93,175,547 (GRCm38)	D215G	probably damaging	Het
Ptprq	A	T	10: 107,523,513 (GRCm38)	M2243K	probably damaging	Het
Rad51b	C	T	12: 79,325,082 (GRCm38)	Q190*	probably null	Het
Rfx8	T	C	1: 39,688,619 (GRCm38)	Y182C	probably benign	Het
Rpgrip1l	C	A	8: 91,252,913 (GRCm38)	R967L	possibly damaging	Het
Scube2	A	G	7: 109,831,724 (GRCm38)	Y423H	possibly damaging	Het
Sipa1l2	A	T	8: 125,468,573 (GRCm38)	Y809N	probably damaging	Het
Slc35f1	C	A	10: 52,933,221 (GRCm38)	Y101*	probably null	Het
Tbc1d22a	A	G	15: 86,214,608 (GRCm38)	K12E	possibly damaging	Het
Tmcc2	C	T	1: 132,357,691 (GRCm38)	V646M	probably damaging	Het
Tpp1	A	T	7: 105,749,380 (GRCm38)	M243K	probably damaging	Het
Trappc12	A	G	12: 28,691,514 (GRCm38)	L732P	probably damaging	Het
U2af2	A	T	7: 5,079,180 (GRCm38)		probably null	Het
Utrn	T	A	10: 12,665,051 (GRCm38)	N1877Y	probably damaging	Het
Vsir	C	T	10: 60,358,037 (GRCm38)	T93I	probably damaging	Het
Zkscan5	T	A	5: 145,205,302 (GRCm38)	M3K	possibly damaging	Het
Zscan29	G	T	2: 121,164,037 (GRCm38)	T489N	probably damaging	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
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
R7439:Lrriq1	UTSW	10	103,214,519 (GRCm38)	missense	probably benign	0.21
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'- ATCCTACAGACATCAGTGCCTTC -3'
(R):5'- CATTTTCAATGCTGGGGTTATATGC -3'

Sequencing Primer
(F):5'- CCCCAGAGTGGCTATGCTTTTAG -3'
(R):5'- CAATGCTGGGGTTATATGCTTTTAC -3'

Posted On

2017-02-28