Mutagenetix > Incidental Mutation

Incidental Mutation 'R5049:Lrriq4'

394506

Institutional Source

Beutler Lab

Gene Symbol

Lrriq4

Ensembl Gene

ENSMUSG00000027703

Gene Name

leucine-rich repeats and IQ motif containing 4

Synonyms

4930558O21Rik

MMRRC Submission

042639-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30698656-30726580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30705086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 371 (D371E)

Ref Sequence

ENSEMBL: ENSMUSP00000127052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029252] [ENSMUST00000108265] [ENSMUST00000108267] [ENSMUST00000172350]

AlphaFold

A6H6A4

Predicted Effect

probably benign
Transcript: ENSMUST00000029252

SMART Domains

Protein: ENSMUSP00000029252
Gene: ENSMUSG00000027702

Domain	Start	End	E-Value	Type
LRR	73	100	2.23e2	SMART
LRR	101	128	6.92e-1	SMART
LRR	129	156	1.78e0	SMART
LRR	157	184	1.67e-2	SMART
Blast:LRR	216	242	2e-9	BLAST
LRR	244	271	2.57e-3	SMART
LRR	272	299	5.59e-4	SMART
LRR	301	328	4.16e0	SMART
LRR	329	356	1.66e2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108265
AA Change: D356E

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103900
Gene: ENSMUSG00000027703
AA Change: D356E

Domain	Start	End	E-Value	Type
LRR	68	90	7.05e-1	SMART
LRR	91	114	1.19e1	SMART
Pfam:LRR_7	115	133	1.1e-1	PFAM
LRR	138	161	9.75e0	SMART
LRR	162	185	8.72e0	SMART
LRR	208	230	3.47e0	SMART
LRR	231	254	9.3e-1	SMART
LRR	255	276	1.22e2	SMART
LRR	277	300	4.83e0	SMART
LRR	323	345	6.22e0	SMART
LRR	346	368	6.4e0	SMART
LRR	369	392	1.51e0	SMART
LRR	418	440	2.03e1	SMART
LRR	441	464	2.82e0	SMART
IQ	524	546	8.84e-3	SMART
low complexity region	553	581	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108267
AA Change: D371E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103902
Gene: ENSMUSG00000027703
AA Change: D371E

Domain	Start	End	E-Value	Type
LRR	83	105	7.05e-1	SMART
LRR	106	129	1.19e1	SMART
Pfam:LRR_7	130	148	1.2e-1	PFAM
LRR	153	176	9.75e0	SMART
LRR	177	200	8.72e0	SMART
LRR	223	245	3.47e0	SMART
LRR	246	269	9.3e-1	SMART
LRR	270	291	1.22e2	SMART
LRR	292	315	4.83e0	SMART
LRR	338	360	6.22e0	SMART
LRR	361	383	6.4e0	SMART
LRR	384	407	1.51e0	SMART
LRR	433	455	2.03e1	SMART
LRR	456	479	2.82e0	SMART
IQ	539	561	8.84e-3	SMART
low complexity region	568	596	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172350
AA Change: D371E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127052
Gene: ENSMUSG00000027703
AA Change: D371E

Domain	Start	End	E-Value	Type
LRR	83	105	7.05e-1	SMART
LRR	106	129	1.19e1	SMART
LRR	153	176	9.75e0	SMART
LRR	177	200	8.72e0	SMART
LRR	223	245	3.47e0	SMART
LRR	246	269	9.3e-1	SMART
LRR	270	291	1.22e2	SMART
LRR	292	315	4.83e0	SMART
LRR	338	360	6.22e0	SMART
LRR	361	383	6.4e0	SMART
LRR	384	407	1.51e0	SMART
LRR	433	455	2.03e1	SMART
LRR	456	479	2.82e0	SMART
IQ	539	561	8.84e-3	SMART
low complexity region	568	596	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.8%
20x: 90.4%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,321,698 (GRCm39)	S76P	probably damaging	Het
Acot8	A	G	2: 164,641,610 (GRCm39)		probably benign	Het
Angptl7	A	G	4: 148,582,468 (GRCm39)	F143L	probably benign	Het
Atxn7l1	A	G	12: 33,408,686 (GRCm39)	T283A	probably benign	Het
Bltp1	T	A	3: 37,094,655 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,095,539 (GRCm39)	M1016T	probably damaging	Het
Brd3	G	T	2: 27,340,589 (GRCm39)		probably benign	Het
C130026L21Rik	T	A	5: 111,729,702 (GRCm39)		noncoding transcript	Het
Cbr4	T	G	8: 61,948,238 (GRCm39)		probably null	Het
Ccl19	A	G	4: 42,756,268 (GRCm39)		probably null	Het
Ccl2	G	T	11: 81,927,333 (GRCm39)	C34F	probably damaging	Het
Dnah12	A	T	14: 26,456,852 (GRCm39)	T873S	probably benign	Het
Dnah2	T	C	11: 69,338,992 (GRCm39)	N3118S	probably damaging	Het
Elapor2	A	G	5: 9,478,488 (GRCm39)	T451A	probably damaging	Het
Epb41l1	C	A	2: 156,366,859 (GRCm39)	P564Q	possibly damaging	Het
Extl3	A	T	14: 65,313,481 (GRCm39)	M567K	probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Foxf2	T	C	13: 31,811,158 (GRCm39)	S366P	probably benign	Het
Gamt	T	A	10: 80,094,788 (GRCm39)	T186S	probably benign	Het
Gcn1	T	A	5: 115,744,730 (GRCm39)	M1642K	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Golga1	A	T	2: 38,937,747 (GRCm39)	M115K	probably damaging	Het
Hapstr1	T	A	16: 8,661,073 (GRCm39)	D183E	probably damaging	Het
Herc3	A	G	6: 58,871,524 (GRCm39)		probably null	Het
Hes2	C	A	4: 152,244,331 (GRCm39)	L39I	possibly damaging	Het
Hopx	C	A	5: 77,242,899 (GRCm39)		probably benign	Het
Idi1	C	T	13: 8,938,078 (GRCm39)	P175S	probably damaging	Het
Ifit1bl1	A	T	19: 34,571,481 (GRCm39)	C325*	probably null	Het
Ighv7-3	T	C	12: 114,116,953 (GRCm39)	I70V	probably benign	Het
Kcnq3	T	C	15: 66,157,746 (GRCm39)	T110A	probably benign	Het
Kif5a	T	C	10: 127,075,708 (GRCm39)	D451G	possibly damaging	Het
Lama3	A	G	18: 12,715,668 (GRCm39)	E1708G	probably benign	Het
Lyst	T	A	13: 13,810,649 (GRCm39)	V773E	probably damaging	Het
Map4	T	A	9: 109,908,882 (GRCm39)	L23*	probably null	Het
Mapkbp1	G	T	2: 119,845,982 (GRCm39)		probably benign	Het
Mrpl30	A	T	1: 37,936,791 (GRCm39)	D52V	possibly damaging	Het
Or10ag57	A	T	2: 87,219,002 (GRCm39)	T318S	probably benign	Het
Or13j1	A	T	4: 43,706,259 (GRCm39)	L103Q	probably damaging	Het
Pard3b	T	A	1: 62,200,320 (GRCm39)	H286Q	probably benign	Het
Parp4	A	G	14: 56,873,188 (GRCm39)	K1144R	possibly damaging	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pkhd1l1	T	C	15: 44,321,012 (GRCm39)	S22P	probably benign	Het
Prss32	A	T	17: 24,078,221 (GRCm39)	E302D	possibly damaging	Het
Prss45	A	G	9: 110,669,538 (GRCm39)	K205E	probably damaging	Het
Puf60	T	A	15: 75,942,323 (GRCm39)	I500F	probably damaging	Het
Ryr3	A	T	2: 112,470,516 (GRCm39)	I4623N	probably damaging	Het
Sh3bp5l	T	A	11: 58,228,950 (GRCm39)		probably benign	Het
Slc3a1	T	G	17: 85,340,273 (GRCm39)	Y232D	probably damaging	Het
Slc8a3	A	G	12: 81,260,906 (GRCm39)	Y608H	probably damaging	Het
Socs7	G	T	11: 97,269,469 (GRCm39)	R429L	probably benign	Het
Sorcs3	C	A	19: 48,748,390 (GRCm39)	N786K	possibly damaging	Het
Sp4	A	T	12: 118,218,207 (GRCm39)	M680K	probably benign	Het
Tas2r131	T	C	6: 132,934,540 (GRCm39)	T90A	probably damaging	Het
Tasor2	A	T	13: 3,624,000 (GRCm39)	H1983Q	probably benign	Het
Tbx21	T	C	11: 97,005,536 (GRCm39)	H143R	probably benign	Het
Tg	T	A	15: 66,699,231 (GRCm39)	C833*	probably null	Het
Tmem245	A	G	4: 56,925,057 (GRCm39)	S355P	probably benign	Het
Tmem86b	G	A	7: 4,631,465 (GRCm39)	P191S	possibly damaging	Het
Tnc	A	G	4: 63,936,223 (GRCm39)	C238R	probably damaging	Het
Tnn	T	A	1: 159,968,308 (GRCm39)	E361D	probably benign	Het
Tpp2	T	C	1: 44,040,633 (GRCm39)	V298A	possibly damaging	Het
Trav7-6	A	G	14: 53,954,536 (GRCm39)	N22S	probably damaging	Het
Trim75	T	C	8: 65,435,091 (GRCm39)		probably null	Het
Trrap	T	A	5: 144,763,527 (GRCm39)	I2492N	probably damaging	Het
Ufl1	G	T	4: 25,254,773 (GRCm39)	A561E	probably benign	Het
Uqcc1	A	G	2: 155,752,341 (GRCm39)	V86A	probably damaging	Het
Vmn1r184	A	G	7: 25,966,793 (GRCm39)	I180V	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,920 (GRCm39)	F195S	possibly damaging	Het
Vmn2r4	A	C	3: 64,306,019 (GRCm39)		probably null	Het
Vmn2r87	T	C	10: 130,308,298 (GRCm39)	T647A	probably damaging	Het
Vps13d	A	T	4: 144,813,336 (GRCm39)	H198Q	probably damaging	Het
Wdfy4	T	C	14: 32,874,627 (GRCm39)	T154A	possibly damaging	Het
Xirp2	A	G	2: 67,347,478 (GRCm39)	M3240V	probably benign	Het
Zfp101	T	C	17: 33,600,872 (GRCm39)	R295G	possibly damaging	Het
Zfp619	G	A	7: 39,184,938 (GRCm39)	V323I	probably benign	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	possibly damaging	Het
Zswim6	C	T	13: 107,863,110 (GRCm39)		noncoding transcript	Het

Other mutations in Lrriq4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Lrriq4	APN	3	30,705,104 (GRCm39)	splice site	probably null
IGL01289:Lrriq4	APN	3	30,704,542 (GRCm39)	missense	probably damaging	1.00
IGL02130:Lrriq4	APN	3	30,704,896 (GRCm39)	missense	probably damaging	0.99
IGL02614:Lrriq4	APN	3	30,709,788 (GRCm39)	missense	probably damaging	1.00
R0329:Lrriq4	UTSW	3	30,709,873 (GRCm39)	missense	probably benign	0.03
R1340:Lrriq4	UTSW	3	30,704,472 (GRCm39)	missense	possibly damaging	0.46
R1440:Lrriq4	UTSW	3	30,704,910 (GRCm39)	missense	probably damaging	1.00
R1446:Lrriq4	UTSW	3	30,704,727 (GRCm39)	missense	probably benign	0.00
R1597:Lrriq4	UTSW	3	30,705,037 (GRCm39)	missense	probably damaging	1.00
R1763:Lrriq4	UTSW	3	30,704,401 (GRCm39)	missense	probably benign	0.19
R1923:Lrriq4	UTSW	3	30,713,242 (GRCm39)	missense	probably benign	0.13
R4024:Lrriq4	UTSW	3	30,704,422 (GRCm39)	missense	possibly damaging	0.46
R4026:Lrriq4	UTSW	3	30,704,422 (GRCm39)	missense	possibly damaging	0.46
R4645:Lrriq4	UTSW	3	30,704,892 (GRCm39)	missense	probably benign	0.20
R4816:Lrriq4	UTSW	3	30,714,196 (GRCm39)	missense	possibly damaging	0.73
R5105:Lrriq4	UTSW	3	30,704,632 (GRCm39)	missense	probably damaging	1.00
R5298:Lrriq4	UTSW	3	30,699,481 (GRCm39)	start codon destroyed	probably null
R5487:Lrriq4	UTSW	3	30,714,144 (GRCm39)	missense	probably benign	0.16
R6147:Lrriq4	UTSW	3	30,713,228 (GRCm39)	missense	probably damaging	1.00
R6421:Lrriq4	UTSW	3	30,704,551 (GRCm39)	missense	probably damaging	1.00
R6452:Lrriq4	UTSW	3	30,709,882 (GRCm39)	missense	probably damaging	1.00
R6624:Lrriq4	UTSW	3	30,704,929 (GRCm39)	missense	probably benign	0.01
R7032:Lrriq4	UTSW	3	30,709,850 (GRCm39)	nonsense	probably null
R8111:Lrriq4	UTSW	3	30,709,930 (GRCm39)	missense	possibly damaging	0.87
R8786:Lrriq4	UTSW	3	30,704,752 (GRCm39)	missense	probably benign	0.02
R8862:Lrriq4	UTSW	3	30,705,088 (GRCm39)	missense	probably damaging	1.00
R8897:Lrriq4	UTSW	3	30,709,807 (GRCm39)	missense	probably damaging	1.00
R9021:Lrriq4	UTSW	3	30,704,401 (GRCm39)	missense	probably benign	0.29
R9720:Lrriq4	UTSW	3	30,714,077 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrriq4	UTSW	3	30,704,145 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TGTCGCTGCATCTGCTGTAC -3'
(R):5'- TGTCCTTGAGAATGAACGCACATAC -3'

Sequencing Primer
(F):5'- TGCTGTACCTGCGCAACAC -3'
(R):5'- GCTGCCTACGTCCTAAGTGAAC -3'

Posted On

2016-06-15