Mutagenetix > Incidental Mutation

Incidental Mutation 'R4632:Lrriq1'

349292

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

041897-MU

Accession Numbers

Essential gene?

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

Stock #

R4632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103046031-103236322 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103221427 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 171 (V171I)

Ref Sequence

ENSEMBL: ENSMUSP00000131419 (fasta)

Gene Model

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

AlphaFold

Q0P5X1

Predicted Effect

probably damaging
Transcript: ENSMUST00000020043
AA Change: V171I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020043
Gene: ENSMUSG00000019892
AA Change: V171I

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 damaging
Transcript: ENSMUST00000123364
AA Change: V171I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119783
Gene: ENSMUSG00000019892
AA Change: V171I

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 damaging
Transcript: ENSMUST00000166240
AA Change: V171I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131419
Gene: ENSMUSG00000019892
AA Change: V171I

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,068,092 (GRCm38)	S393P	probably benign	Het
Abcg1	T	C	17: 31,064,473 (GRCm38)	V44A	probably benign	Het
Abr	C	T	11: 76,509,019 (GRCm38)	G39R	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,265,382 (GRCm38)		probably null	Het
Agbl1	A	G	7: 76,413,685 (GRCm38)	T47A	probably benign	Het
Akap13	G	T	7: 75,666,553 (GRCm38)	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226 (GRCm38)	E148K	probably damaging	Het
Ankar	T	A	1: 72,647,184 (GRCm38)	T1286S	probably benign	Het
Ankrd13c	A	G	3: 157,962,302 (GRCm38)	H166R	probably damaging	Het
Arl16	A	G	11: 120,465,784 (GRCm38)	S130P	probably damaging	Het
Atp10a	A	T	7: 58,807,438 (GRCm38)	Q895L	possibly damaging	Het
Atp13a5	T	A	16: 29,348,719 (GRCm38)	R138W	probably damaging	Het
Auts2	G	A	5: 131,472,275 (GRCm38)	T309M	probably damaging	Het
C6	A	T	15: 4,759,868 (GRCm38)	K265I	probably benign	Het
Casz1	A	G	4: 148,951,855 (GRCm38)	T1525A	possibly damaging	Het
Chpf2	A	G	5: 24,591,831 (GRCm38)	T592A	probably benign	Het
Cilp	A	T	9: 65,279,880 (GRCm38)	T1086S	probably benign	Het
Cmip	A	G	8: 117,447,411 (GRCm38)	Y410C	possibly damaging	Het
Csmd3	A	G	15: 48,011,209 (GRCm38)	C560R	probably damaging	Het
Dchs1	T	A	7: 105,754,355 (GRCm38)	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,427,951 (GRCm38)	F3585L	probably damaging	Het
Dspp	A	G	5: 104,177,406 (GRCm38)	D545G	unknown	Het
Dusp7	T	A	9: 106,370,766 (GRCm38)	S198T	possibly damaging	Het
Ell2	A	T	13: 75,769,574 (GRCm38)	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,755,865 (GRCm38)	Y572*	probably null	Het
Galntl6	T	A	8: 58,427,823 (GRCm38)	I99F	probably damaging	Het
Gm609	T	G	16: 45,417,908 (GRCm38)	H181P	probably benign	Het
Gnat3	G	A	5: 18,015,366 (GRCm38)		probably null	Het
Hykk	T	C	9: 54,946,516 (GRCm38)	I374T	probably benign	Het
Kcnd3	C	T	3: 105,658,766 (GRCm38)	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,523,148 (GRCm38)	I722V	possibly damaging	Het
Krt1	C	T	15: 101,846,187 (GRCm38)	G543S	unknown	Het
Krt13	A	G	11: 100,121,224 (GRCm38)	L91P	possibly damaging	Het
Krtap4-13	A	C	11: 99,809,528 (GRCm38)	S102A	unknown	Het
Lrp2	A	G	2: 69,489,129 (GRCm38)		probably null	Het
Map3k4	C	G	17: 12,232,504 (GRCm38)	E1501Q	probably damaging	Het
Mapk11	C	T	15: 89,146,376 (GRCm38)	V105M	probably damaging	Het
Mlph	G	A	1: 90,939,386 (GRCm38)	A377T	probably damaging	Het
Myo9a	G	A	9: 59,869,664 (GRCm38)	C1115Y	probably benign	Het
Nabp1	A	T	1: 51,474,602 (GRCm38)	Y78*	probably null	Het
Nos2	T	C	11: 78,957,591 (GRCm38)	F1108S	possibly damaging	Het
Oas2	T	C	5: 120,733,481 (GRCm38)	K699R	probably benign	Het
Olfm5	T	C	7: 104,160,893 (GRCm38)	D87G	probably benign	Het
Olfr15	C	T	16: 3,839,087 (GRCm38)	T38M	probably damaging	Het
Oog3	A	G	4: 144,158,128 (GRCm38)	F413L	probably benign	Het
Pik3r4	A	G	9: 105,654,899 (GRCm38)	M557V	probably benign	Het
Pkhd1l1	A	G	15: 44,484,400 (GRCm38)	T224A	probably benign	Het
Pknox2	A	G	9: 36,894,413 (GRCm38)	S367P	probably benign	Het
Ppfia2	A	G	10: 106,836,044 (GRCm38)		probably null	Het
Ppm1e	G	A	11: 87,231,530 (GRCm38)	P534S	probably damaging	Het
Prepl	T	C	17: 85,083,231 (GRCm38)	T100A	probably benign	Het
Ptpn13	A	G	5: 103,569,860 (GRCm38)	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Samd12	T	A	15: 53,719,671 (GRCm38)	H89L	possibly damaging	Het
Sephs1	T	A	2: 4,896,760 (GRCm38)	V211E	probably benign	Het
Setx	C	T	2: 29,148,615 (GRCm38)	T1704I	probably benign	Het
Sltm	T	C	9: 70,579,369 (GRCm38)	S439P	possibly damaging	Het
Sort1	G	T	3: 108,346,678 (GRCm38)	Q553H	probably damaging	Het
Svs2	G	T	2: 164,237,747 (GRCm38)	T80N	probably benign	Het
Tanc1	C	A	2: 59,795,835 (GRCm38)	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,141,498 (GRCm38)	V188E	probably damaging	Het
Tesk2	C	T	4: 116,741,712 (GRCm38)	R6W	probably benign	Het
Tex101	G	T	7: 24,668,368 (GRCm38)	C186*	probably null	Het
Timp2	C	T	11: 118,303,772 (GRCm38)	S197N	probably benign	Het
Tmem37	A	T	1: 120,068,249 (GRCm38)	C33S	probably damaging	Het
Tmem69	T	C	4: 116,553,038 (GRCm38)	D245G	probably benign	Het
Trak1	G	A	9: 121,454,425 (GRCm38)	R419Q	probably benign	Het
Ube2j2	T	A	4: 155,955,258 (GRCm38)	I14N	probably damaging	Het
Ush2a	T	A	1: 188,395,874 (GRCm38)	N694K	possibly damaging	Het
Utp20	A	G	10: 88,778,261 (GRCm38)	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,531,954 (GRCm38)	S753F	probably damaging	Het
Vmn2r103	T	C	17: 19,793,696 (GRCm38)	I250T	probably benign	Het
Zap70	G	T	1: 36,778,458 (GRCm38)	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,314,309 (GRCm38)	W87R	probably damaging	Het
Zfp410	A	T	12: 84,325,736 (GRCm38)	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981 (GRCm38)	F501S	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
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
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'- CTTTTAGCGCGAGGTGAGAAAG -3'
(R):5'- GCATATCTGCTAAGTTGACATCAG -3'

Sequencing Primer
(F):5'- CGAACCTTCTGAAGATCCTCTAAGTG -3'
(R):5'- ATCTGCTAAGTTGACATCAGTTTAC -3'

Posted On

2015-10-08