Mutagenetix > Incidental Mutation

Incidental Mutation 'R9189:Lrrc43'

697589

Institutional Source

Beutler Lab

Gene Symbol

Lrrc43

Ensembl Gene

ENSMUSG00000063409

Gene Name

leucine rich repeat containing 43

Synonyms

LOC381741

MMRRC Submission

068951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R9189 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123627368-123646268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123646109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 628 (S628P)

Ref Sequence

ENSEMBL: ENSMUSP00000091885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031384] [ENSMUST00000094327] [ENSMUST00000111587] [ENSMUST00000121444] [ENSMUST00000125652] [ENSMUST00000139398] [ENSMUST00000196809] [ENSMUST00000197682] [ENSMUST00000200247]

AlphaFold

Q3V0L5

Predicted Effect

probably benign
Transcript: ENSMUST00000031384

SMART Domains

Protein: ENSMUSP00000031384
Gene: ENSMUSG00000029431

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Galactosyl_T	106	297	1.3e-43	PFAM
Pfam:Fringe	169	302	2.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094327
AA Change: S628P

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

SMART Domains

Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409
AA Change: S628P

Domain	Start	End	E-Value	Type
low complexity region	63	80	N/A	INTRINSIC
SCOP:d1a9na_	117	262	3e-16	SMART
low complexity region	389	402	N/A	INTRINSIC
low complexity region	537	565	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111587

SMART Domains

Protein: ENSMUSP00000107214
Gene: ENSMUSG00000029433

Domain	Start	End	E-Value	Type
Pfam:Smac_DIABLO	9	237	4.1e-106	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121444
AA Change: S621P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409
AA Change: S621P

Domain	Start	End	E-Value	Type
low complexity region	63	80	N/A	INTRINSIC
SCOP:d1a9na_	117	262	4e-16	SMART
low complexity region	389	402	N/A	INTRINSIC
low complexity region	530	558	N/A	INTRINSIC
low complexity region	607	622	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125652

SMART Domains

Protein: ENSMUSP00000115045
Gene: ENSMUSG00000029433

Domain	Start	End	E-Value	Type
Pfam:Smac_DIABLO	6	237	1.1e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139398

SMART Domains

Protein: ENSMUSP00000143485
Gene: ENSMUSG00000029433

Domain	Start	End	E-Value	Type
Pfam:Smac_DIABLO	6	150	7.1e-68	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000196809

SMART Domains

Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409

Domain	Start	End	E-Value	Type
low complexity region	63	80	N/A	INTRINSIC
SCOP:d1a9na_	117	262	2e-16	SMART
low complexity region	389	402	N/A	INTRINSIC
low complexity region	537	565	N/A	INTRINSIC
low complexity region	635	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197682

Predicted Effect

probably benign
Transcript: ENSMUST00000200247

SMART Domains

Protein: ENSMUSP00000143673
Gene: ENSMUSG00000029433

Domain	Start	End	E-Value	Type
Pfam:Smac_DIABLO	1	109	4.4e-57	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	T	A	11: 116,065,231 (GRCm39)	D608V	probably damaging	Het
Actg1	A	T	11: 120,239,013 (GRCm39)	C26S	unknown	Het
Ahnak	T	A	19: 8,988,247 (GRCm39)	V3177E	possibly damaging	Het
Akap11	G	A	14: 78,750,938 (GRCm39)	T483I		Het
Akr1cl	A	G	1: 65,063,830 (GRCm39)	S120P	probably benign	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Ankrd55	A	T	13: 112,504,570 (GRCm39)	I439F	probably damaging	Het
Asb8	A	G	15: 98,040,635 (GRCm39)	M9T	possibly damaging	Het
Ascc1	A	T	10: 59,843,645 (GRCm39)	Y69F	probably benign	Het
Atp9a	A	T	2: 168,518,060 (GRCm39)		probably null	Het
Cd8b1	T	C	6: 71,306,752 (GRCm39)	F160L	probably benign	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cep250	A	G	2: 155,818,350 (GRCm39)	T842A	probably benign	Het
Cgnl1	T	A	9: 71,630,847 (GRCm39)	K552*	probably null	Het
Cntnap4	C	T	8: 113,602,600 (GRCm39)	T1227M	possibly damaging	Het
Cobll1	C	A	2: 64,981,333 (GRCm39)	V86F	probably damaging	Het
Dchs2	A	G	3: 83,255,561 (GRCm39)	N2419S	probably damaging	Het
Dhx30	A	T	9: 109,914,494 (GRCm39)	L1001*	probably null	Het
Diaph1	C	T	18: 38,024,162 (GRCm39)	V559M	unknown	Het
Dis3l	A	T	9: 64,217,731 (GRCm39)	H783Q	probably benign	Het
Dock7	T	G	4: 98,877,350 (GRCm39)	T1063P	unknown	Het
Dsc1	T	C	18: 20,232,214 (GRCm39)	T265A	possibly damaging	Het
Eif2ak4	A	T	2: 118,258,393 (GRCm39)	Q581L	probably damaging	Het
Eprs1	A	T	1: 185,106,334 (GRCm39)	D183V	possibly damaging	Het
Fads2	G	C	19: 10,069,183 (GRCm39)	D80E	probably benign	Het
Fam167b	G	A	4: 129,470,875 (GRCm39)	R158C	probably damaging	Het
Flnb	T	A	14: 7,892,976 (GRCm38)	I682K	possibly damaging	Het
Garin4	G	A	1: 190,894,900 (GRCm39)	T581I	possibly damaging	Het
Gpatch2l	C	T	12: 86,291,152 (GRCm39)	P112S	probably benign	Het
Gpn1	T	A	5: 31,654,710 (GRCm39)	H87Q	unknown	Het
Greb1l	T	C	18: 10,499,983 (GRCm39)	V350A	probably benign	Het
Grm5	A	T	7: 87,724,024 (GRCm39)	K771N	probably damaging	Het
Gucy2c	C	T	6: 136,728,045 (GRCm39)	S319N	probably benign	Het
H2bc8	A	G	13: 23,755,761 (GRCm39)	D52G	probably damaging	Het
Hcfc2	G	T	10: 82,535,041 (GRCm39)	A22S	probably benign	Het
Hnf4a	A	G	2: 163,393,497 (GRCm39)	D39G	probably benign	Het
Il6st	C	T	13: 112,635,340 (GRCm39)	T584M	probably damaging	Het
Irf3	T	A	7: 44,650,246 (GRCm39)	V254E	possibly damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kank4	T	A	4: 98,668,289 (GRCm39)	K53*	probably null	Het
Kcnj11	A	T	7: 45,748,176 (GRCm39)	F382L	possibly damaging	Het
Kcnq3	T	C	15: 65,867,510 (GRCm39)	Y711C	probably damaging	Het
Kctd3	A	G	1: 188,704,636 (GRCm39)	S712P	possibly damaging	Het
Krt20	A	G	11: 99,323,087 (GRCm39)	I245T	possibly damaging	Het
Larp1b	T	C	3: 40,925,039 (GRCm39)	I219T	probably damaging	Het
Lman2l	A	G	1: 36,478,771 (GRCm39)	F114L	probably damaging	Het
Loxl2	T	A	14: 69,929,859 (GRCm39)	Y746N	possibly damaging	Het
Mroh8	A	C	2: 157,111,545 (GRCm39)	D136E	probably damaging	Het
Nek8	T	A	11: 78,063,342 (GRCm39)	M141L	probably benign	Het
Nr2e1	C	A	10: 42,454,268 (GRCm39)	R22L	probably damaging	Het
Nr6a1	C	T	2: 38,816,129 (GRCm39)		probably null	Het
Onecut2	A	G	18: 64,473,890 (GRCm39)	Y147C	probably damaging	Het
Or1ad1	T	A	11: 50,876,166 (GRCm39)	C213S	probably damaging	Het
Or1j1	T	A	2: 36,702,214 (GRCm39)	M297L	possibly damaging	Het
Or5d37	A	G	2: 87,924,194 (GRCm39)	F29L	probably damaging	Het
Or5d39	T	C	2: 87,979,908 (GRCm39)	M152V	probably benign	Het
Pcdhac2	T	C	18: 37,277,316 (GRCm39)	F99L	probably benign	Het
Pcdhga2	T	G	18: 37,802,795 (GRCm39)	V213G	possibly damaging	Het
Pgap1	A	T	1: 54,519,908 (GRCm39)	V909E	probably benign	Het
Pik3r4	A	T	9: 105,547,038 (GRCm39)	T939S	probably benign	Het
Pip4k2c	T	C	10: 127,035,246 (GRCm39)	D374G	possibly damaging	Het
Plxdc1	A	T	11: 97,844,788 (GRCm39)	D252E	probably benign	Het
Pm20d1	A	C	1: 131,730,115 (GRCm39)	D218A	probably damaging	Het
Polq	C	A	16: 36,865,265 (GRCm39)	Q706K	probably damaging	Het
Pram1	A	T	17: 33,860,131 (GRCm39)	I233F	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Prss41	A	T	17: 24,061,361 (GRCm39)	H143Q	probably damaging	Het
Ptpn21	A	G	12: 98,655,261 (GRCm39)	Y569H	probably damaging	Het
Rad17	T	C	13: 100,773,564 (GRCm39)	K142E	probably damaging	Het
Rcan3	T	C	4: 135,152,607 (GRCm39)	E38G	probably benign	Het
Rgl3	C	A	9: 21,885,356 (GRCm39)	R658L	possibly damaging	Het
Rnf125	T	A	18: 21,116,240 (GRCm39)	*141K	probably null	Het
Ros1	G	T	10: 52,019,502 (GRCm39)	N711K	probably damaging	Het
Rsph10b	T	A	5: 143,896,504 (GRCm39)	Y421N	probably benign	Het
Ryr1	C	T	7: 28,776,471 (GRCm39)	V2222I	probably damaging	Het
Samsn1	C	T	16: 75,656,449 (GRCm39)	C333Y	probably damaging	Het
Slc9a2	G	A	1: 40,794,944 (GRCm39)	E502K	probably benign	Het
Stard9	A	T	2: 120,533,500 (GRCm39)	E3252D	possibly damaging	Het
Syne1	C	A	10: 5,123,008 (GRCm39)	R309S	probably damaging	Het
Syne1	T	C	10: 5,172,289 (GRCm39)	I5051V	probably benign	Het
Syngap1	A	G	17: 27,183,948 (GRCm39)	S1241G	probably damaging	Het
Tbpl2	T	C	2: 23,966,030 (GRCm39)	K321R	probably damaging	Het
Tnrc18	C	T	5: 142,717,107 (GRCm39)	G2449E	probably damaging	Het
Trim25	A	G	11: 88,901,731 (GRCm39)	D342G	probably benign	Het
Tssk4	T	A	14: 55,887,904 (GRCm39)	H33Q	probably benign	Het
Ttc3	G	A	16: 94,268,831 (GRCm39)	G1971D	possibly damaging	Het
Tufm	C	T	7: 126,088,849 (GRCm39)	Q347*	probably null	Het
Ubxn10	G	A	4: 138,448,133 (GRCm39)	S181F	possibly damaging	Het
Ushbp1	T	C	8: 71,841,539 (GRCm39)	E430G	probably benign	Het
Vmn1r33	T	C	6: 66,588,716 (GRCm39)	I279M	possibly damaging	Het
Vmn2r115	T	C	17: 23,564,784 (GRCm39)	F224L	probably damaging	Het
Vmn2r23	A	T	6: 123,681,323 (GRCm39)	H77L	probably benign	Het
Vps13a	T	C	19: 16,663,961 (GRCm39)	I1481V	probably benign	Het
Vps35	T	C	8: 86,007,898 (GRCm39)	N294S	possibly damaging	Het
Washc3	A	T	10: 88,051,916 (GRCm39)	T102S	probably benign	Het
Zfp27	T	A	7: 29,595,359 (GRCm39)	E202V	possibly damaging	Het
Zfp58	T	C	13: 67,640,035 (GRCm39)	H152R	possibly damaging	Het
Zfr2	T	C	10: 81,080,496 (GRCm39)	V390A	probably damaging	Het

Other mutations in Lrrc43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02123:Lrrc43	APN	5	123,632,342 (GRCm39)	missense	probably damaging	1.00
IGL02364:Lrrc43	APN	5	123,639,275 (GRCm39)	missense	possibly damaging	0.77
PIT4520001:Lrrc43	UTSW	5	123,630,530 (GRCm39)	missense	possibly damaging	0.93
R0019:Lrrc43	UTSW	5	123,639,378 (GRCm39)	missense	probably damaging	1.00
R0279:Lrrc43	UTSW	5	123,635,085 (GRCm39)	splice site	probably null
R0523:Lrrc43	UTSW	5	123,639,305 (GRCm39)	missense	probably damaging	1.00
R1723:Lrrc43	UTSW	5	123,630,276 (GRCm39)	unclassified	probably benign
R2104:Lrrc43	UTSW	5	123,639,177 (GRCm39)	missense	probably benign	0.00
R2213:Lrrc43	UTSW	5	123,641,640 (GRCm39)	missense	possibly damaging	0.94
R2269:Lrrc43	UTSW	5	123,641,354 (GRCm39)	missense	probably damaging	1.00
R4591:Lrrc43	UTSW	5	123,639,227 (GRCm39)	missense	probably benign	0.00
R4629:Lrrc43	UTSW	5	123,637,583 (GRCm39)	missense	probably damaging	1.00
R4727:Lrrc43	UTSW	5	123,632,366 (GRCm39)	missense	probably damaging	1.00
R4941:Lrrc43	UTSW	5	123,639,126 (GRCm39)	missense	probably benign	0.01
R4960:Lrrc43	UTSW	5	123,637,675 (GRCm39)	missense	probably benign	0.19
R5028:Lrrc43	UTSW	5	123,646,176 (GRCm39)	missense	probably damaging	1.00
R5387:Lrrc43	UTSW	5	123,637,734 (GRCm39)	splice site	probably null
R5653:Lrrc43	UTSW	5	123,637,643 (GRCm39)	missense	probably damaging	1.00
R6266:Lrrc43	UTSW	5	123,641,340 (GRCm39)	missense	probably damaging	1.00
R6323:Lrrc43	UTSW	5	123,641,949 (GRCm39)	missense	probably damaging	1.00
R6703:Lrrc43	UTSW	5	123,637,532 (GRCm39)	missense	possibly damaging	0.94
R6869:Lrrc43	UTSW	5	123,642,339 (GRCm39)	critical splice donor site	probably null
R6909:Lrrc43	UTSW	5	123,638,482 (GRCm39)	missense	probably benign	0.14
R7023:Lrrc43	UTSW	5	123,641,826 (GRCm39)	missense	probably damaging	1.00
R7910:Lrrc43	UTSW	5	123,639,084 (GRCm39)	missense	probably benign	0.27
R7910:Lrrc43	UTSW	5	123,630,470 (GRCm39)	missense	probably damaging	1.00
R8093:Lrrc43	UTSW	5	123,639,192 (GRCm39)	missense	probably benign	0.41
R8127:Lrrc43	UTSW	5	123,630,334 (GRCm39)	missense	probably damaging	1.00
R8351:Lrrc43	UTSW	5	123,632,328 (GRCm39)	missense	probably damaging	1.00
R8722:Lrrc43	UTSW	5	123,646,142 (GRCm39)	missense	possibly damaging	0.73
R8920:Lrrc43	UTSW	5	123,639,194 (GRCm39)	missense	probably benign	0.00
R9305:Lrrc43	UTSW	5	123,646,219 (GRCm39)	missense	unknown
R9544:Lrrc43	UTSW	5	123,641,307 (GRCm39)	missense	probably damaging	1.00
R9588:Lrrc43	UTSW	5	123,641,307 (GRCm39)	missense	probably damaging	1.00
X0024:Lrrc43	UTSW	5	123,639,381 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAGTTGGGGCTTATTGAATCAATG -3'
(R):5'- TTGGCAACTGCAACGCTCTC -3'

Sequencing Primer
(F):5'- TGGGGCTTATTGAATCAATGTATTC -3'
(R):5'- GCAACTGCAACGCTCTCTTTCC -3'

Posted On

2022-02-07