Mutagenetix > Incidental Mutation

Incidental Mutation 'R4718:Lrrcc1'

354193

Institutional Source

Beutler Lab

Gene Symbol

Lrrcc1

Ensembl Gene

ENSMUSG00000027550

Gene Name

leucine rich repeat and coiled-coil domain containing 1

Synonyms

1200008A14Rik, 4932441F23Rik

MMRRC Submission

041985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14598848-14637718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14601092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 41 (H41Q)

Ref Sequence

ENSEMBL: ENSMUSP00000126560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091325] [ENSMUST00000108370] [ENSMUST00000163660] [ENSMUST00000165436] [ENSMUST00000169079]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000091325
AA Change: H41Q

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

SMART Domains

Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: H41Q

Domain	Start	End	E-Value	Type
Pfam:LRR_8	60	116	1.1e-9	PFAM
Pfam:LRR_4	82	126	4.8e-8	PFAM
Blast:LRR	130	151	1e-5	BLAST
coiled coil region	412	626	N/A	INTRINSIC
coiled coil region	675	718	N/A	INTRINSIC
coiled coil region	757	1010	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108370
AA Change: H41Q

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

SMART Domains

Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: H41Q

Domain	Start	End	E-Value	Type
Pfam:LRR_8	60	116	1.1e-9	PFAM
Pfam:LRR_4	82	124	4.5e-8	PFAM
Blast:LRR	130	151	1e-5	BLAST
low complexity region	289	301	N/A	INTRINSIC
coiled coil region	428	642	N/A	INTRINSIC
coiled coil region	691	734	N/A	INTRINSIC
coiled coil region	773	953	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163660

SMART Domains

Protein: ENSMUSP00000128733
Gene: ENSMUSG00000027550

Domain	Start	End	E-Value	Type
Blast:LRR	8	29	7e-6	BLAST
SCOP:d1dcea3	9	71	9e-4	SMART
low complexity region	167	179	N/A	INTRINSIC
coiled coil region	306	520	N/A	INTRINSIC
coiled coil region	569	612	N/A	INTRINSIC
coiled coil region	651	716	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165436
AA Change: H41Q

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129430
Gene: ENSMUSG00000027550
AA Change: H41Q

Domain	Start	End	E-Value	Type
Pfam:LRR_9	32	154	4e-10	PFAM
Pfam:LRR_6	60	83	1.4e-4	PFAM
Pfam:LRR_4	60	103	6.2e-11	PFAM
Pfam:LRR_8	60	116	8.1e-11	PFAM
Pfam:LRR_1	61	81	3.3e-4	PFAM
Pfam:LRR_6	78	105	3.4e-3	PFAM
Pfam:LRR_4	82	125	4.9e-9	PFAM
Pfam:LRR_6	103	125	5.1e-4	PFAM
Pfam:LRR_4	104	149	1.2e-8	PFAM
Pfam:LRR_1	105	128	3.8e-3	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169079
AA Change: H41Q

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

SMART Domains

Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: H41Q

Domain	Start	End	E-Value	Type
Pfam:LRR_4	60	102	4.3e-9	PFAM
internal_repeat_1	109	145	1.05e-6	PROSPERO
low complexity region	289	301	N/A	INTRINSIC
coiled coil region	428	642	N/A	INTRINSIC
coiled coil region	691	734	N/A	INTRINSIC
coiled coil region	773	1026	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 115,001,615 (GRCm39)		probably null	Het
Acsm2	A	T	7: 119,172,826 (GRCm39)	Y147F	probably damaging	Het
Alg12	A	T	15: 88,690,256 (GRCm39)	Y413N	probably damaging	Het
Arrdc3	A	T	13: 81,031,986 (GRCm39)	Q73L	possibly damaging	Het
Atp13a5	T	C	16: 29,066,922 (GRCm39)	K1017E	probably damaging	Het
Bmal1	A	T	7: 112,902,568 (GRCm39)	I399F	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Bsph1	T	A	7: 13,206,107 (GRCm39)	Y47*	probably null	Het
Crat	A	T	2: 30,298,176 (GRCm39)	Y174*	probably null	Het
Csmd3	G	T	15: 47,561,546 (GRCm39)	Y2254*	probably null	Het
Cyld	T	A	8: 89,468,933 (GRCm39)	I568N	probably damaging	Het
Dapl1	T	C	2: 59,315,072 (GRCm39)	V7A	probably benign	Het
Dhx29	G	A	13: 113,083,469 (GRCm39)	R508H	unknown	Het
Dnah9	A	G	11: 65,976,299 (GRCm39)	I1250T	probably benign	Het
Dnajb3	C	T	1: 88,133,061 (GRCm39)	D114N	probably benign	Het
Dsg1b	A	G	18: 20,530,986 (GRCm39)	N446D	probably damaging	Het
Dthd1	T	A	5: 62,976,136 (GRCm39)	V270E	probably damaging	Het
F2rl3	A	C	8: 73,489,536 (GRCm39)	R254S	possibly damaging	Het
Fgfr2	A	G	7: 129,863,518 (GRCm39)	S24P	probably damaging	Het
Fpr2	T	C	17: 18,113,598 (GRCm39)	V198A	probably benign	Het
Gbp2b	G	A	3: 142,304,756 (GRCm39)	G64D	probably damaging	Het
Gbp9	T	G	5: 105,231,624 (GRCm39)	N321H	probably damaging	Het
Gk2	T	A	5: 97,603,725 (GRCm39)	Y371F	probably benign	Het
Gm10382	T	C	5: 125,466,462 (GRCm39)		probably benign	Het
Gpatch3	A	G	4: 133,309,855 (GRCm39)	D396G	probably benign	Het
Heatr5a	A	C	12: 51,962,946 (GRCm39)	L985V	possibly damaging	Het
Homer1	T	A	13: 93,528,272 (GRCm39)	V269E	probably damaging	Het
Hspbap1	T	C	16: 35,607,692 (GRCm39)	V66A	probably benign	Het
Ighv7-2	A	C	12: 113,876,089 (GRCm39)	I5M	possibly damaging	Het
Ints7	T	A	1: 191,315,389 (GRCm39)	F108Y	possibly damaging	Het
Itga7	CT	CTGGGGATT	10: 128,776,603 (GRCm39)		probably null	Het
Junb	G	A	8: 85,705,061 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,020,992 (GRCm39)	N116S	probably benign	Het
Lrguk	A	G	6: 34,006,431 (GRCm39)	T14A	probably benign	Het
Ltb	C	A	17: 35,414,313 (GRCm39)		probably null	Het
Mapk7	A	G	11: 61,380,080 (GRCm39)	S693P	possibly damaging	Het
Mbd5	A	T	2: 49,146,414 (GRCm39)	H208L	possibly damaging	Het
Megf9	A	T	4: 70,367,015 (GRCm39)	S322R	possibly damaging	Het
Mgat4c	T	C	10: 102,224,467 (GRCm39)	V227A	probably damaging	Het
Mospd3	G	A	5: 137,597,915 (GRCm39)	T151M	probably benign	Het
Mpl	A	G	4: 118,313,921 (GRCm39)	S115P	probably benign	Het
Myo6	C	A	9: 80,153,799 (GRCm39)	D258E	probably benign	Het
N4bp2	G	A	5: 65,960,806 (GRCm39)	M492I	probably damaging	Het
Ndst3	G	A	3: 123,465,915 (GRCm39)	A19V	probably benign	Het
Nkx2-3	C	A	19: 43,601,082 (GRCm39)	T48K	probably benign	Het
Nlrp4f	T	C	13: 65,342,803 (GRCm39)	T281A	probably benign	Het
Nmur1	A	G	1: 86,315,463 (GRCm39)	V157A	probably damaging	Het
Obscn	A	T	11: 58,912,780 (GRCm39)	F6992L	probably damaging	Het
Ocm	G	T	5: 143,961,375 (GRCm39)	P22Q	possibly damaging	Het
Or5be3	T	C	2: 86,864,239 (GRCm39)	T109A	probably damaging	Het
Osbp2	C	A	11: 3,661,793 (GRCm39)	C753F	probably damaging	Het
Pabpc2	A	G	18: 39,907,556 (GRCm39)	T274A	probably benign	Het
Pamr1	T	A	2: 102,472,681 (GRCm39)	I660N	probably damaging	Het
Papola	C	T	12: 105,786,707 (GRCm39)	T466I	possibly damaging	Het
Pask	T	C	1: 93,249,918 (GRCm39)	E494G	possibly damaging	Het
Pck1	A	T	2: 172,997,014 (GRCm39)	I219F	probably damaging	Het
Pgm3	T	C	9: 86,452,448 (GRCm39)	E4G	probably benign	Het
Pgs1	A	G	11: 117,896,709 (GRCm39)	H462R	probably damaging	Het
Phlpp2	T	A	8: 110,667,452 (GRCm39)	M1327K	probably benign	Het
Pkhd1	C	A	1: 20,151,452 (GRCm39)	G3815W	probably damaging	Het
Plin4	T	A	17: 56,413,981 (GRCm39)	I215F	possibly damaging	Het
Plod1	T	G	4: 148,000,701 (GRCm39)		probably benign	Het
Ppfia2	T	C	10: 106,694,146 (GRCm39)	S707P	probably damaging	Het
Psmd12	A	G	11: 107,377,259 (GRCm39)	Q86R	probably benign	Het
Rasgrf2	C	A	13: 92,138,716 (GRCm39)		probably null	Het
Rictor	T	C	15: 6,812,641 (GRCm39)	S926P	possibly damaging	Het
Rras2	A	T	7: 113,649,584 (GRCm39)	I160N	probably benign	Het
Slc27a6	A	T	18: 58,738,138 (GRCm39)	Y398F	probably benign	Het
Speer4f1	A	G	5: 17,685,422 (GRCm39)	E239G	unknown	Het
Sppl2c	T	C	11: 104,079,141 (GRCm39)	I647T	probably benign	Het
Sptan1	A	G	2: 29,921,074 (GRCm39)	Y2467C	probably damaging	Het
Sptbn1	G	T	11: 30,104,297 (GRCm39)	H136N	probably damaging	Het
Stau2	T	C	1: 16,416,269 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,624,495 (GRCm39)	D1818E	probably benign	Het
Tet1	T	A	10: 62,649,591 (GRCm39)	I40F	probably damaging	Het
Tnfaip2	A	G	12: 111,412,463 (GRCm39)	E288G	possibly damaging	Het
Trav7-5	T	A	14: 53,768,610 (GRCm39)	H59Q	probably benign	Het
Usp53	T	C	3: 122,727,631 (GRCm39)	I984V	probably benign	Het
Wdfy4	A	G	14: 32,867,273 (GRCm39)	I403T	probably benign	Het
Yars2	T	A	16: 16,127,204 (GRCm39)	M423K	probably benign	Het
Zfp292	A	T	4: 34,819,521 (GRCm39)	V272D	possibly damaging	Het
Zmynd11	A	T	13: 9,739,603 (GRCm39)	V478D	possibly damaging	Het

Other mutations in Lrrcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Lrrcc1	APN	3	14,601,188 (GRCm39)	missense	possibly damaging	0.91
IGL01325:Lrrcc1	APN	3	14,601,601 (GRCm39)	critical splice donor site	probably null
IGL01681:Lrrcc1	APN	3	14,613,286 (GRCm39)	missense	probably benign	0.35
IGL01767:Lrrcc1	APN	3	14,612,332 (GRCm39)	missense	probably damaging	0.97
IGL01868:Lrrcc1	APN	3	14,619,417 (GRCm39)	nonsense	probably null
IGL03123:Lrrcc1	APN	3	14,601,144 (GRCm39)	missense	probably damaging	0.97
PIT1430001:Lrrcc1	UTSW	3	14,610,656 (GRCm39)	missense	probably damaging	0.99
R0295:Lrrcc1	UTSW	3	14,630,909 (GRCm39)	missense	probably benign	0.05
R0427:Lrrcc1	UTSW	3	14,623,416 (GRCm39)	missense	probably damaging	1.00
R0433:Lrrcc1	UTSW	3	14,624,434 (GRCm39)	missense	probably damaging	1.00
R0534:Lrrcc1	UTSW	3	14,622,333 (GRCm39)	missense	probably damaging	1.00
R0631:Lrrcc1	UTSW	3	14,605,179 (GRCm39)	splice site	probably benign
R0635:Lrrcc1	UTSW	3	14,624,288 (GRCm39)	missense	probably benign	0.11
R1355:Lrrcc1	UTSW	3	14,613,174 (GRCm39)	missense	probably benign	0.07
R1370:Lrrcc1	UTSW	3	14,613,174 (GRCm39)	missense	probably benign	0.07
R1727:Lrrcc1	UTSW	3	14,602,423 (GRCm39)	missense	probably damaging	0.99
R1822:Lrrcc1	UTSW	3	14,624,285 (GRCm39)	unclassified	probably benign
R1946:Lrrcc1	UTSW	3	14,615,453 (GRCm39)	missense	probably benign	0.02
R2254:Lrrcc1	UTSW	3	14,612,315 (GRCm39)	missense	probably damaging	1.00
R2362:Lrrcc1	UTSW	3	14,628,084 (GRCm39)	missense	probably damaging	1.00
R2392:Lrrcc1	UTSW	3	14,601,580 (GRCm39)	missense	probably damaging	1.00
R4105:Lrrcc1	UTSW	3	14,615,388 (GRCm39)	missense	probably benign	0.21
R4464:Lrrcc1	UTSW	3	14,622,378 (GRCm39)	missense	probably damaging	1.00
R4484:Lrrcc1	UTSW	3	14,616,503 (GRCm39)	missense	probably damaging	1.00
R4543:Lrrcc1	UTSW	3	14,604,851 (GRCm39)	missense	probably damaging	0.98
R4734:Lrrcc1	UTSW	3	14,627,345 (GRCm39)	missense	probably damaging	1.00
R4799:Lrrcc1	UTSW	3	14,601,156 (GRCm39)	nonsense	probably null
R4841:Lrrcc1	UTSW	3	14,627,571 (GRCm39)	missense	probably benign	0.04
R4842:Lrrcc1	UTSW	3	14,627,571 (GRCm39)	missense	probably benign	0.04
R5900:Lrrcc1	UTSW	3	14,627,186 (GRCm39)	missense	possibly damaging	0.69
R6338:Lrrcc1	UTSW	3	14,612,376 (GRCm39)	missense	possibly damaging	0.48
R7001:Lrrcc1	UTSW	3	14,605,155 (GRCm39)	missense	probably damaging	0.99
R7036:Lrrcc1	UTSW	3	14,628,069 (GRCm39)	missense	possibly damaging	0.80
R7342:Lrrcc1	UTSW	3	14,619,431 (GRCm39)	missense	probably benign
R8038:Lrrcc1	UTSW	3	14,630,890 (GRCm39)	missense	possibly damaging	0.77
R8497:Lrrcc1	UTSW	3	14,605,044 (GRCm39)	missense	possibly damaging	0.80
R8509:Lrrcc1	UTSW	3	14,601,567 (GRCm39)	missense	probably damaging	1.00
R8679:Lrrcc1	UTSW	3	14,601,084 (GRCm39)	missense	probably benign	0.00
R8966:Lrrcc1	UTSW	3	14,602,359 (GRCm39)	missense	probably damaging	1.00
R9120:Lrrcc1	UTSW	3	14,615,489 (GRCm39)	nonsense	probably null
R9251:Lrrcc1	UTSW	3	14,623,454 (GRCm39)	missense	probably damaging	1.00
R9512:Lrrcc1	UTSW	3	14,613,301 (GRCm39)	missense	possibly damaging	0.95
R9572:Lrrcc1	UTSW	3	14,601,148 (GRCm39)	nonsense	probably null
R9788:Lrrcc1	UTSW	3	14,602,286 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCAACTGCTTAAGAGTTTG -3'
(R):5'- TTCCACTCTTGTGATCAAATTGCAG -3'

Sequencing Primer
(F):5'- CTCATTTTCAGCTACCAGAAGAGGG -3'
(R):5'- TGCAGGACAAATTTAAAGTGCATAGC -3'

Posted On

2015-10-21