Mutagenetix > Incidental Mutation

Incidental Mutation 'R9557:Gm4787'

720822

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9557 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81376991-81379464 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 81379300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 28 (L28*)

Ref Sequence

ENSEMBL: ENSMUSP00000077390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062182] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]

AlphaFold

B2RUD9

Predicted Effect

probably null
Transcript: ENSMUST00000062182
AA Change: L28*

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: L28*

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Pep_M12B_propep	46	163	1.5e-19	PFAM
Pfam:Reprolysin	213	406	4.6e-18	PFAM
DISIN	425	500	2e-33	SMART
ACR	501	644	2.83e-53	SMART
transmembrane domain	714	736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,306,283	L523P	probably damaging	Het
Adcy5	T	C	16: 35,270,957	V590A	probably damaging	Het
Alg1	A	T	16: 5,239,956	D238V	probably damaging	Het
Ankrd55	C	A	13: 112,348,813	P187H	probably damaging	Het
Aox4	G	T	1: 58,245,936	V616F	probably benign	Het
Apc	C	A	18: 34,318,359	H2769Q	probably damaging	Het
Bach1	C	G	16: 87,719,715	S381R	probably benign	Het
C2cd2l	G	A	9: 44,319,830	A20V	probably benign	Het
Catsperg1	T	C	7: 29,204,798	D266G	probably damaging	Het
Ces4a	A	G	8: 105,142,895	S233G	possibly damaging	Het
Comp	T	A	8: 70,377,204	D359E	probably benign	Het
Cyp2b13	A	C	7: 26,080,698	N91T	probably benign	Het
Dhx9	A	C	1: 153,457,546	M1151R	probably benign	Het
E2f5	G	T	3: 14,588,251	L142F	probably benign	Het
Egflam	G	T	15: 7,212,175	N917K	probably damaging	Het
Ercc6l2	C	T	13: 63,842,122	R254C	probably damaging	Het
Erh	G	A	12: 80,642,797	P18S	probably benign	Het
Fam110b	T	C	4: 5,799,064	S161P	probably damaging	Het
Fam210a	TAAAATGTTCCAAA	TAAA	18: 68,275,777		probably null	Het
Fbn1	T	C	2: 125,338,538	I1775V	probably damaging	Het
Fry	C	A	5: 150,466,316	Q137K		Het
Gm5538	T	A	3: 59,751,739	N204K	possibly damaging	Het
Gm8298	T	G	3: 59,877,233	F376V	possibly damaging	Het
Gpr179	A	G	11: 97,344,203	F434L	probably damaging	Het
Grik2	T	C	10: 49,528,009	Y252C	probably damaging	Het
H1f0	C	T	15: 79,028,747	P9L	probably damaging	Het
Hectd4	A	G	5: 121,321,554	T829A	possibly damaging	Het
Ing4	A	G	6: 125,048,391	E245G	probably benign	Het
Lgr4	C	T	2: 109,996,739	A196V	probably damaging	Het
Lrrc51	T	A	7: 101,913,122	K176N	probably benign	Het
Lrrc9	T	A	12: 72,486,207	M950K	probably benign	Het
Lrrd1	A	T	5: 3,851,432	D579V	probably damaging	Het
Magi3	C	T	3: 104,015,157	A1415T	probably benign	Het
Magi3	A	C	3: 104,017,617	I1072S	probably damaging	Het
Mast1	G	A	8: 84,930,845	T101I	probably damaging	Het
Mccc1	A	T	3: 35,995,827	V72E	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Megf8	A	T	7: 25,359,086	Q2169L	possibly damaging	Het
Mllt6	A	G	11: 97,673,484	D342G	probably benign	Het
Mycbp2	T	A	14: 103,135,261	T4050S	probably benign	Het
Nbeal1	A	G	1: 60,235,350	T307A	probably benign	Het
Olfr653	T	C	7: 104,580,561	I305T	probably damaging	Het
Olfr743	A	G	14: 50,534,095	T228A	probably benign	Het
Plat	T	C	8: 22,772,653	F125L	probably benign	Het
Ppm1b	T	A	17: 84,994,073	M127K	probably benign	Het
Ppp4r1	C	A	17: 65,803,263	D52E	probably benign	Het
Rasgrp3	T	G	17: 75,500,144	I201S	probably damaging	Het
Rfpl4b	T	A	10: 38,820,874	M244L	probably benign	Het
Rhbdl3	A	T	11: 80,353,451	H328L	probably benign	Het
Rsad2	T	A	12: 26,445,522	I325F	probably damaging	Het
Shank2	T	C	7: 144,410,110	V485A	probably benign	Het
Slc6a5	A	G	7: 49,911,726	N2S	probably benign	Het
Sox4	G	T	13: 28,952,930	A31E	probably damaging	Het
Suv39h2	A	T	2: 3,474,414	C2S		Het
Tet2	A	G	3: 133,485,805	I956T	probably benign	Het
Topaz1	A	G	9: 122,749,465	D480G	possibly damaging	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Ugt1a6b	G	T	1: 88,107,098	G53*	probably null	Het
Vmn1r173	T	C	7: 23,702,784	V148A	probably damaging	Het
Vnn1	G	A	10: 23,900,825	C358Y	probably damaging	Het
Wdr34	G	A	2: 30,032,522	A366V	possibly damaging	Het
Wdr89	A	G	12: 75,632,892	V196A	probably damaging	Het
Wfdc6a	T	A	2: 164,583,838	D71V	possibly damaging	Het
Zc3h3	T	C	15: 75,839,296	K439E	probably damaging	Het
Zfp367	T	C	13: 64,152,772	H73R	probably damaging	Het
Zfp955a	G	A	17: 33,242,133	R342*	probably null	Het

Other mutations in Gm4787

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01719:Gm4787	APN	12	81377174	missense	possibly damaging	0.50
IGL01916:Gm4787	APN	12	81377444	missense	probably benign	0.36
IGL02193:Gm4787	APN	12	81378528	missense	probably benign	0.02
IGL02623:Gm4787	APN	12	81378728	missense	probably damaging	1.00
IGL02681:Gm4787	APN	12	81378769	missense	possibly damaging	0.88
IGL03257:Gm4787	APN	12	81378052	missense	probably damaging	1.00
IGL03410:Gm4787	APN	12	81379174	missense	probably damaging	1.00
F5770:Gm4787	UTSW	12	81377567	nonsense	probably null
PIT4362001:Gm4787	UTSW	12	81377175	missense	probably benign
R0070:Gm4787	UTSW	12	81379066	missense	probably damaging	1.00
R0128:Gm4787	UTSW	12	81377747	nonsense	probably null
R0220:Gm4787	UTSW	12	81378648	missense	probably damaging	0.98
R0304:Gm4787	UTSW	12	81378934	missense	probably damaging	1.00
R0513:Gm4787	UTSW	12	81378312	missense	probably benign	0.03
R1761:Gm4787	UTSW	12	81377176	missense	probably benign	0.02
R1809:Gm4787	UTSW	12	81378529	missense	possibly damaging	0.91
R1853:Gm4787	UTSW	12	81378334	missense	probably damaging	1.00
R1854:Gm4787	UTSW	12	81378334	missense	probably damaging	1.00
R2030:Gm4787	UTSW	12	81378770	missense	probably damaging	1.00
R2063:Gm4787	UTSW	12	81378920	missense	probably benign	0.39
R2112:Gm4787	UTSW	12	81377833	missense	probably damaging	1.00
R2140:Gm4787	UTSW	12	81378562	missense	probably benign	0.03
R2151:Gm4787	UTSW	12	81377219	missense	probably benign	0.00
R2152:Gm4787	UTSW	12	81377219	missense	probably benign	0.00
R2342:Gm4787	UTSW	12	81378758	missense	possibly damaging	0.91
R2504:Gm4787	UTSW	12	81379137	missense	possibly damaging	0.93
R4038:Gm4787	UTSW	12	81378358	missense	probably damaging	1.00
R4604:Gm4787	UTSW	12	81379213	missense	probably benign	0.17
R4748:Gm4787	UTSW	12	81378056	missense	probably damaging	1.00
R4750:Gm4787	UTSW	12	81378367	missense	possibly damaging	0.95
R4928:Gm4787	UTSW	12	81378838	missense	probably benign	0.03
R4960:Gm4787	UTSW	12	81379316	missense	probably damaging	0.99
R4974:Gm4787	UTSW	12	81377629	missense	probably damaging	0.99
R5028:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5029:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5031:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5098:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5099:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5100:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5101:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5135:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5152:Gm4787	UTSW	12	81378677	missense	probably benign	0.02
R5180:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5220:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5257:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5258:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5297:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5324:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5325:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5355:Gm4787	UTSW	12	81377465	nonsense	probably null
R5364:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5396:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5397:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5398:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5514:Gm4787	UTSW	12	81378328	missense	possibly damaging	0.90
R5634:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5666:Gm4787	UTSW	12	81378031	missense	probably benign	0.23
R5670:Gm4787	UTSW	12	81378031	missense	probably benign	0.23
R5787:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5788:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R6354:Gm4787	UTSW	12	81377981	missense	probably damaging	1.00
R6932:Gm4787	UTSW	12	81379200	missense	probably benign	0.04
R7120:Gm4787	UTSW	12	81378486	missense	probably benign	0.00
R7237:Gm4787	UTSW	12	81377668	missense	probably damaging	0.99
R7937:Gm4787	UTSW	12	81377905	missense	probably benign	0.01
R8022:Gm4787	UTSW	12	81377720	missense	possibly damaging	0.94
R8140:Gm4787	UTSW	12	81378151	missense	probably benign	0.00
R8314:Gm4787	UTSW	12	81379135	missense	probably damaging	1.00
R8480:Gm4787	UTSW	12	81377506	missense	probably damaging	1.00
R8498:Gm4787	UTSW	12	81379066	missense	probably damaging	1.00
R8515:Gm4787	UTSW	12	81377269	missense	probably benign	0.00
R9103:Gm4787	UTSW	12	81378715	missense	probably benign	0.06
R9457:Gm4787	UTSW	12	81379246	missense	probably damaging	1.00
R9608:Gm4787	UTSW	12	81378312	missense	probably benign	0.03
V7580:Gm4787	UTSW	12	81377567	nonsense	probably null
V7581:Gm4787	UTSW	12	81377567	nonsense	probably null
V7582:Gm4787	UTSW	12	81377567	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGAGTTTCATGTGGACCAC -3'
(R):5'- CACACAATGCTTGGATGAGC -3'

Sequencing Primer
(F):5'- GACCACATGTCTTTGTCCCCTAAAG -3'
(R):5'- GCAGAGCATTGTTATGTAACAGCCTC -3'

Posted On

2022-08-09