Mutagenetix > Incidental Mutation

Incidental Mutation 'R7036:Lrrcc1'

546665

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

045012-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14598848-14637718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14628069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 958 (V958A)

Ref Sequence

ENSEMBL: ENSMUSP00000104007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091325] [ENSMUST00000108370] [ENSMUST00000163660] [ENSMUST00000167858] [ENSMUST00000169079]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091325
AA Change: V942A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: V942A

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

possibly damaging
Transcript: ENSMUST00000108370
AA Change: V958A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: V958A

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

possibly damaging
Transcript: ENSMUST00000167858
AA Change: V537A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129368
Gene: ENSMUSG00000027550
AA Change: V537A

Domain	Start	End	E-Value	Type
coiled coil region	7	221	N/A	INTRINSIC
coiled coil region	270	313	N/A	INTRINSIC
low complexity region	450	472	N/A	INTRINSIC
SCOP:d1ek8a_	494	550	7e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169079
AA Change: V958A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: V958A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169799

SMART Domains

Protein: ENSMUSP00000126592
Gene: ENSMUSG00000027550

Domain	Start	End	E-Value	Type
coiled coil region	1	131	N/A	INTRINSIC
coiled coil region	200	228	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Ahnak2	A	G	12: 112,745,216 (GRCm39)		probably benign	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank2	T	C	3: 126,740,041 (GRCm39)		probably benign	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Arl8a	G	C	1: 135,082,206 (GRCm39)	E145Q	probably benign	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Arsj	T	C	3: 126,158,649 (GRCm39)	L76P	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Bcl6	A	T	16: 23,793,611 (GRCm39)	L112Q	probably damaging	Het
Bfsp1	T	A	2: 143,668,843 (GRCm39)	T579S	possibly damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cerkl	T	C	2: 79,171,722 (GRCm39)	I379V	probably benign	Het
Cndp2	T	A	18: 84,688,070 (GRCm39)	H307L	possibly damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dixdc1	T	A	9: 50,593,864 (GRCm39)	R254S	probably benign	Het
Dop1b	T	A	16: 93,574,378 (GRCm39)	D30E	probably benign	Het
Duox2	T	G	2: 122,110,934 (GRCm39)	H1513P	probably damaging	Het
Dyrk1a	G	A	16: 94,487,427 (GRCm39)	V546I	probably benign	Het
E130308A19Rik	A	C	4: 59,719,991 (GRCm39)	K508Q	probably damaging	Het
Emc8	A	T	8: 121,385,790 (GRCm39)	V108E	probably benign	Het
Epb41l1	A	G	2: 156,371,322 (GRCm39)	T720A	probably benign	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Fem1b	T	A	9: 62,704,310 (GRCm39)	I317F	probably damaging	Het
Focad	A	G	4: 88,042,874 (GRCm39)	E36G	probably benign	Het
Fryl	C	T	5: 73,212,951 (GRCm39)	E2275K	probably benign	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Garin3	G	A	11: 46,298,235 (GRCm39)	S513N		Het
Gatad2a	A	T	8: 70,370,644 (GRCm39)	N114K	probably damaging	Het
Gcnt2	CTAATG	C	13: 41,041,032 (GRCm39)		probably null	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
Gsn	T	A	2: 35,182,611 (GRCm39)	W187R	probably damaging	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Ints14	T	C	9: 64,871,827 (GRCm39)	V55A	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Klf1	C	T	8: 85,629,379 (GRCm39)	S68F	possibly damaging	Het
Kmt2e	A	G	5: 23,683,741 (GRCm39)	E333G	probably null	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrp1b	T	C	2: 41,002,354 (GRCm39)	D2001G	possibly damaging	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Lrrc71	T	C	3: 87,655,693 (GRCm39)	T27A	probably benign	Het
Med15	A	T	16: 17,516,019 (GRCm39)	M1K	probably null	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Nat10	T	C	2: 103,584,453 (GRCm39)	N108S	probably benign	Het
Ncald	A	T	15: 37,369,122 (GRCm39)	S178T	probably benign	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Or5ak25	A	G	2: 85,268,774 (GRCm39)	S243P	probably damaging	Het
Or5d39	T	A	2: 87,979,469 (GRCm39)	D298V	probably damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcdhb4	T	A	18: 37,441,835 (GRCm39)	C382S	possibly damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Plcg2	G	A	8: 118,323,045 (GRCm39)	R700H	probably benign	Het
Popdc2	A	T	16: 38,183,173 (GRCm39)	Y52F	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rrh	T	C	3: 129,609,342 (GRCm39)	E55G	possibly damaging	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Sds	A	T	5: 120,618,912 (GRCm39)	K125M	possibly damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Tbx1	G	T	16: 18,405,551 (GRCm39)	P38T	unknown	Het
Tcl1	T	C	12: 105,183,860 (GRCm39)		probably benign	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdr70	T	C	15: 7,913,855 (GRCm39)	D598G	possibly damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	probably benign	Het
Zfp872	C	T	9: 22,111,856 (GRCm39)	P445L	probably benign	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
R4718:Lrrcc1	UTSW	3	14,601,092 (GRCm39)	missense	probably damaging	1.00
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
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'- ACCTGAAACATTGAATTCCCGTG -3'
(R):5'- CCCTGGAGTTATTACCTGTTAATGAC -3'

Sequencing Primer
(F):5'- ACATTGAATTCCCGTGAAAAATAGG -3'
(R):5'- GGTTATGTCATCAATATGTTCAGCC -3'

Posted On

2019-05-13