Mutagenetix > Incidental Mutation

Incidental Mutation 'R6452:Lrriq4'

519398

Institutional Source

Beutler Lab

Gene Symbol

Lrriq4

Ensembl Gene

ENSMUSG00000027703

Gene Name

leucine-rich repeats and IQ motif containing 4

Synonyms

4930558O21Rik

MMRRC Submission

044588-MU

Accession Numbers

Essential gene?

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

Stock #

R6452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30698656-30726580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30709882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 409 (S409P)

Ref Sequence

ENSEMBL: ENSMUSP00000127052 (fasta)

Gene Model

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

AlphaFold

A6H6A4

Predicted Effect

probably damaging
Transcript: ENSMUST00000108265
AA Change: S394P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103900
Gene: ENSMUSG00000027703
AA Change: S394P

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: S409P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103902
Gene: ENSMUSG00000027703
AA Change: S409P

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: S409P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127052
Gene: ENSMUSG00000027703
AA Change: S409P

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	G	13: 119,624,651 (GRCm39)		probably benign	Het
Alox12e	A	T	11: 70,210,831 (GRCm39)	V296E	probably damaging	Het
Bmal2	G	A	6: 146,724,705 (GRCm39)	E400K	probably benign	Het
Ccdc171	A	G	4: 83,782,527 (GRCm39)	D1273G	probably damaging	Het
Cetn3	C	T	13: 81,932,797 (GRCm39)	R19*	probably null	Het
Chd6	G	T	2: 160,807,418 (GRCm39)	P1932H	possibly damaging	Het
Cimip1	C	A	2: 173,369,700 (GRCm39)	F71L	probably benign	Het
Cyp2d34	A	T	15: 82,500,290 (GRCm39)	I483N	probably benign	Het
Dglucy	T	C	12: 100,801,468 (GRCm39)	V71A	possibly damaging	Het
Dhx35	A	G	2: 158,673,607 (GRCm39)	E346G	probably damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fasn	G	T	11: 120,706,237 (GRCm39)	Q1036K	probably damaging	Het
Fermt3	A	T	19: 6,992,105 (GRCm39)	F92I	probably benign	Het
Filip1l	C	A	16: 57,327,163 (GRCm39)	D64E	possibly damaging	Het
Fnbp1l	A	G	3: 122,338,198 (GRCm39)	F491S	probably damaging	Het
Fzd2	T	G	11: 102,495,811 (GRCm39)	V85G	probably damaging	Het
Gjd4	G	A	18: 9,280,457 (GRCm39)	T207M	possibly damaging	Het
Gm32742	T	C	9: 51,057,490 (GRCm39)	E1096G	probably damaging	Het
Itgb3	T	A	11: 104,524,290 (GRCm39)	L142*	probably null	Het
Kctd21	T	A	7: 96,996,869 (GRCm39)	I114N	probably benign	Het
Klra4	G	T	6: 130,042,329 (GRCm39)		probably null	Het
Larp4b	T	C	13: 9,197,503 (GRCm39)	V240A	probably damaging	Het
Magel2	A	G	7: 62,030,132 (GRCm39)	E1012G	unknown	Het
Mmp24	A	T	2: 155,657,673 (GRCm39)	D521V	possibly damaging	Het
Mocos	A	G	18: 24,828,998 (GRCm39)	I768V	probably benign	Het
Mprip	A	T	11: 59,643,609 (GRCm39)	E553V	probably damaging	Het
Myh8	A	T	11: 67,183,275 (GRCm39)	Y718F	probably benign	Het
Myh8	A	T	11: 67,196,565 (GRCm39)	I1762F	possibly damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Neb	A	T	2: 52,069,495 (GRCm39)	D5775E	probably benign	Het
Or10h5	T	C	17: 33,434,919 (GRCm39)	N133S	probably benign	Het
Or5p66	A	G	7: 107,886,100 (GRCm39)	S78P	probably damaging	Het
Pramel19	T	C	4: 101,798,640 (GRCm39)	Y204H	probably benign	Het
Prl8a2	T	C	13: 27,536,780 (GRCm39)	I134T	probably benign	Het
Qrich2	G	A	11: 116,346,714 (GRCm39)	T1370I	probably benign	Het
Rabgap1l	A	G	1: 160,281,331 (GRCm39)	L630P	probably damaging	Het
Ranbp2	G	T	10: 58,313,979 (GRCm39)	L1566F	probably benign	Het
Rnf43	T	A	11: 87,623,079 (GRCm39)	W727R	probably damaging	Het
Rundc3b	A	T	5: 8,629,175 (GRCm39)		probably null	Het
Samm50	T	G	15: 84,088,298 (GRCm39)		probably benign	Het
Sema4f	G	A	6: 82,894,643 (GRCm39)	A476V	probably benign	Het
Slc4a4	A	G	5: 89,376,839 (GRCm39)	N1031S	probably benign	Het
Slc4a9	A	G	18: 36,664,512 (GRCm39)	Y390C	probably damaging	Het
Slco6d1	C	A	1: 98,348,937 (GRCm39)	Q3K	probably benign	Het
Smim1	T	C	4: 154,108,071 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sppl2c	A	T	11: 104,079,017 (GRCm39)	T606S	probably benign	Het
Tex15	A	G	8: 34,062,844 (GRCm39)	D758G	probably damaging	Het
Tigd5	A	T	15: 75,783,287 (GRCm39)	R550*	probably null	Het
Tlcd3a	G	T	11: 76,097,972 (GRCm39)	G60*	probably null	Het
Tnrc18	A	C	5: 142,712,767 (GRCm39)	L2594R	probably damaging	Het
Vezf1	A	G	11: 87,972,496 (GRCm39)	T468A	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,840 (GRCm39)	I149F	probably damaging	Het
Vmn2r96	A	C	17: 18,804,117 (GRCm39)	T264P	probably benign	Het
Zfp217	C	G	2: 169,961,214 (GRCm39)	S371T	probably benign	Het
Zfp442	G	A	2: 150,250,028 (GRCm39)	H568Y	probably damaging	Het
Zfp53	A	C	17: 21,729,875 (GRCm39)	H636P	probably damaging	Het
Zscan4d	C	T	7: 10,895,999 (GRCm39)	C457Y	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
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
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
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'- GGTTCAAAGTCAAAAGCTCAAGC -3'
(R):5'- TGGAAAGCATCACCTCACGTTC -3'

Sequencing Primer
(F):5'- TGAAGTATTGGTAACCCACTGCC -3'
(R):5'- CACGTTCTCTCAGTCTTAGTGTATGG -3'

Posted On

2018-05-24