Mutagenetix > Incidental Mutation

Incidental Mutation 'R1446:Lrriq4'

158848

Institutional Source

Beutler Lab

Gene Symbol

Lrriq4

Ensembl Gene

ENSMUSG00000027703

Gene Name

leucine-rich repeats and IQ motif containing 4

Synonyms

4930558O21Rik

MMRRC Submission

039501-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30698656-30726580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30704727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 252 (F252L)

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

probably benign
Transcript: ENSMUST00000108265
AA Change: F237L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103900
Gene: ENSMUSG00000027703
AA Change: F237L

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 benign
Transcript: ENSMUST00000108267
AA Change: F252L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103902
Gene: ENSMUSG00000027703
AA Change: F252L

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 benign
Transcript: ENSMUST00000172350
AA Change: F252L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000127052
Gene: ENSMUSG00000027703
AA Change: F252L

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Adcy4	A	T	14: 56,007,480 (GRCm39)		probably null	Het
Ahcyl2	T	C	6: 29,891,239 (GRCm39)	S448P	probably damaging	Het
Anks1b	A	G	10: 90,346,935 (GRCm39)	Y745C	probably benign	Het
Anxa1	A	T	19: 20,351,103 (GRCm39)	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,153,591 (GRCm39)	D64G	probably benign	Het
Arpc1a	A	G	5: 145,037,896 (GRCm39)		probably null	Het
Bank1	C	T	3: 135,769,904 (GRCm39)	G727R	probably damaging	Het
Best2	T	C	8: 85,734,593 (GRCm39)	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,596,189 (GRCm39)	M501L	probably benign	Het
Col27a1	T	A	4: 63,143,040 (GRCm39)	Y243N	probably damaging	Het
Cyp11a1	A	T	9: 57,922,560 (GRCm39)	Q80L	possibly damaging	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,112,128 (GRCm39)	H139R	probably benign	Het
Dppa5a	T	A	9: 78,275,071 (GRCm39)	N77I	probably benign	Het
Edc4	T	C	8: 106,614,764 (GRCm39)	S125P	probably damaging	Het
Eid2	T	C	7: 27,968,014 (GRCm39)	I212T	possibly damaging	Het
Fam234b	T	A	6: 135,186,328 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,017 (GRCm39)	E830G	probably benign	Het
Fyb1	A	T	15: 6,681,947 (GRCm39)	I765L	probably benign	Het
Fyn	T	G	10: 39,398,775 (GRCm39)	S124A	probably benign	Het
Gal3st3	T	A	19: 5,356,939 (GRCm39)	F105I	probably damaging	Het
Gpr146	A	G	5: 139,379,177 (GRCm39)	I326M	probably benign	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Gsn	A	G	2: 35,196,598 (GRCm39)	K669R	probably benign	Het
H2-T10	A	T	17: 36,430,266 (GRCm39)	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,286,127 (GRCm39)	H106R	probably benign	Het
Kat14	A	G	2: 144,215,638 (GRCm39)	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,361,792 (GRCm39)	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,805,525 (GRCm39)	T244I	probably damaging	Het
Klb	A	T	5: 65,506,338 (GRCm39)	H195L	probably damaging	Het
Lum	C	T	10: 97,404,252 (GRCm39)	T49I	possibly damaging	Het
Map3k4	T	A	17: 12,475,681 (GRCm39)	L84*	probably null	Het
Mindy2	A	G	9: 70,514,738 (GRCm39)		probably null	Het
Mpped2	G	T	2: 106,614,077 (GRCm39)	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,905,425 (GRCm39)	R2058W	probably damaging	Het
Nol8	T	A	13: 49,808,703 (GRCm39)	L65Q	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or4c108	A	G	2: 88,804,109 (GRCm39)	I42T	probably benign	Het
Or4x6	A	T	2: 89,949,202 (GRCm39)	L247M	probably damaging	Het
Or5b105	G	A	19: 13,080,380 (GRCm39)	A96V	possibly damaging	Het
Or5g9	A	G	2: 85,551,917 (GRCm39)	H56R	probably damaging	Het
Or8b3	T	G	9: 38,314,601 (GRCm39)	C144G	possibly damaging	Het
Or9a4	C	T	6: 40,548,833 (GRCm39)	S171L	probably benign	Het
Parp12	G	T	6: 39,079,495 (GRCm39)	D338E	probably benign	Het
Pde6d	T	C	1: 86,474,414 (GRCm39)	E77G	probably damaging	Het
Phkg1	A	C	5: 129,902,055 (GRCm39)		probably null	Het
Pigw	A	C	11: 84,769,186 (GRCm39)	S48A	probably benign	Het
Pkm	T	A	9: 59,576,193 (GRCm39)		probably null	Het
Ppp1r3f	G	A	X: 7,426,602 (GRCm39)	T553M	probably damaging	Het
Retreg2	T	A	1: 75,120,103 (GRCm39)	F44L	possibly damaging	Het
Ryr2	A	T	13: 11,753,035 (GRCm39)	M1762K	probably benign	Het
Sec16a	A	G	2: 26,313,579 (GRCm39)	V1927A	probably benign	Het
Sec23a	G	T	12: 59,025,345 (GRCm39)	A492E	probably damaging	Het
Skint4	T	A	4: 111,975,311 (GRCm39)	H82Q	probably benign	Het
Srbd1	T	C	17: 86,446,580 (GRCm39)	K60E	probably benign	Het
Stk24	A	G	14: 121,545,456 (GRCm39)	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,726,396 (GRCm39)	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848 (GRCm39)	P757S	probably damaging	Het
Tmc2	A	T	2: 130,090,650 (GRCm39)	E665D	probably damaging	Het
Tmprss15	C	A	16: 78,875,846 (GRCm39)	D163Y	probably benign	Het
Unc13a	C	A	8: 72,101,625 (GRCm39)	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,819,496 (GRCm39)	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,645,264 (GRCm39)	M450V	possibly damaging	Het
Wars2	T	C	3: 99,094,843 (GRCm39)	I46T	probably benign	Het
Wdfy3	G	T	5: 101,999,176 (GRCm39)	T3098K	possibly damaging	Het
Zan	A	T	5: 137,387,622 (GRCm39)	I4863N	unknown	Het
Zfp616	A	G	11: 73,974,064 (GRCm39)		probably null	Het
Zfp770	A	T	2: 114,027,514 (GRCm39)	I185N	probably damaging	Het
Zfp808	T	G	13: 62,320,821 (GRCm39)	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,776,275 (GRCm39)	W1221R	probably damaging	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
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
R5049:Lrriq4	UTSW	3	30,705,086 (GRCm39)	missense	probably damaging	0.97
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'- TGCAAATCCCTGCATCACCTGGAG -3'
(R):5'- GCAAATCTGCACGGGAAAGTGTTC -3'

Sequencing Primer
(F):5'- AGAACTTCCTGGAATCGCTG -3'
(R):5'- TTCTGACTGAGGTCCAGGAAG -3'

Posted On

2014-03-14