Mutagenetix > Incidental Mutation

Incidental Mutation 'R0624:Epb41l5'

58765

Institutional Source

Beutler Lab

Gene Symbol

Epb41l5

Ensembl Gene

ENSMUSG00000026383

Gene Name

erythrocyte membrane protein band 4.1 like 5

Synonyms

E230025E14Rik, 1700030C16Rik, NBL5, Epb4.1l5, Lulu1

MMRRC Submission

038813-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0624 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

119472767-119576730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119551688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 99 (D99G)

Ref Sequence

ENSEMBL: ENSMUSP00000140227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027632] [ENSMUST00000052404] [ENSMUST00000163147] [ENSMUST00000187194] [ENSMUST00000191046]

AlphaFold

Q8BGS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000027632
AA Change: D99G

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

SMART Domains

Protein: ENSMUSP00000027632
Gene: ENSMUSG00000026383
AA Change: D99G

Domain	Start	End	E-Value	Type
B41	39	235	8.64e-68	SMART
FERM_C	239	331	1.07e-34	SMART
FA	336	380	1.16e-12	SMART
low complexity region	412	421	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000052404
AA Change: D99G

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

SMART Domains

Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: D99G

Domain	Start	End	E-Value	Type
B41	39	235	8.64e-68	SMART
FERM_C	239	331	1.07e-34	SMART
FA	336	380	1.16e-12	SMART
low complexity region	412	421	N/A	INTRINSIC
coiled coil region	482	512	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163147
AA Change: D99G

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

SMART Domains

Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: D99G

Domain	Start	End	E-Value	Type
B41	39	235	8.64e-68	SMART
FERM_C	239	331	1.07e-34	SMART
FA	336	380	1.16e-12	SMART
low complexity region	420	429	N/A	INTRINSIC
coiled coil region	490	520	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187194
AA Change: D99G

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

SMART Domains

Protein: ENSMUSP00000139683
Gene: ENSMUSG00000026383
AA Change: D99G

Domain	Start	End	E-Value	Type
Pfam:FERM_N	47	114	1.7e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189042

Predicted Effect

probably damaging
Transcript: ENSMUST00000191046
AA Change: D99G

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

SMART Domains

Protein: ENSMUSP00000140227
Gene: ENSMUSG00000026383
AA Change: D99G

Domain	Start	End	E-Value	Type
B41	39	235	8.64e-68	SMART
FERM_C	239	331	1.07e-34	SMART
FA	336	380	1.16e-12	SMART
low complexity region	412	421	N/A	INTRINSIC

Meta Mutation Damage Score

0.9185

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.2%

Validation Efficiency

98% (88/90)

MGI Phenotype

PHENOTYPE: Mice homozygous for a number of different mutations exhibit prenatal lethality and mesodermal and epithelial-mesenchymal transition defects during gastrulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,446 (GRCm39)	D767V	probably damaging	Het
Add1	T	A	5: 34,763,197 (GRCm39)	N128K	probably damaging	Het
Ado	A	T	10: 67,384,058 (GRCm39)	D182E	probably benign	Het
Anapc4	T	A	5: 53,002,761 (GRCm39)		probably benign	Het
Ano10	A	G	9: 122,088,661 (GRCm39)		probably benign	Het
Apba2	A	G	7: 64,364,263 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,417 (GRCm39)	T1795A	probably benign	Het
Atp4a	A	G	7: 30,418,424 (GRCm39)	N571D	probably benign	Het
Birc6	A	G	17: 74,887,344 (GRCm39)	N891D	probably benign	Het
Bltp2	G	A	11: 78,159,283 (GRCm39)	E494K	probably damaging	Het
Car3	G	T	3: 14,931,864 (GRCm39)	M78I	probably benign	Het
Cc2d2a	A	T	5: 43,887,371 (GRCm39)	H1267L	probably benign	Het
Cdk18	A	G	1: 132,046,610 (GRCm39)	L192P	probably damaging	Het
Cdk9	A	T	2: 32,599,836 (GRCm39)	Y134N	probably damaging	Het
Ceacam5	A	T	7: 17,448,888 (GRCm39)	T85S	probably benign	Het
Cenpe	A	G	3: 134,952,347 (GRCm39)	T1403A	probably benign	Het
Chd8	C	T	14: 52,457,214 (GRCm39)	G918D	possibly damaging	Het
Csnk1e	T	A	15: 79,304,098 (GRCm39)		probably benign	Het
Dctpp1	A	T	7: 126,856,365 (GRCm39)	I119N	probably damaging	Het
Defb34	T	A	8: 19,173,784 (GRCm39)	F6Y	unknown	Het
Dnai4	T	C	4: 102,930,054 (GRCm39)		probably benign	Het
Dvl1	C	G	4: 155,939,232 (GRCm39)	N248K	probably damaging	Het
Dync1h1	T	C	12: 110,618,181 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,211,910 (GRCm39)	D199G	probably damaging	Het
Eml5	T	A	12: 98,831,738 (GRCm39)	R407W	probably damaging	Het
Fat1	A	T	8: 45,504,205 (GRCm39)	N4566I	possibly damaging	Het
Gm21834	T	C	17: 58,049,015 (GRCm39)	E67G	possibly damaging	Het
Gsap	T	A	5: 21,458,949 (GRCm39)		probably null	Het
Guf1	T	C	5: 69,715,923 (GRCm39)	I108T	probably damaging	Het
Hsd3b5	T	C	3: 98,526,720 (GRCm39)	D242G	probably damaging	Het
Kcna7	A	G	7: 45,059,114 (GRCm39)	D467G	probably null	Het
Lars1	A	G	18: 42,375,849 (GRCm39)		probably benign	Het
Lrrc56	A	T	7: 140,786,366 (GRCm39)	D248V	probably damaging	Het
Map3k14	T	A	11: 103,133,117 (GRCm39)	E27V	possibly damaging	Het
Med12l	G	A	3: 58,945,123 (GRCm39)	W116*	probably null	Het
Mgll	A	G	6: 88,702,799 (GRCm39)	R33G	probably damaging	Het
Mmp13	A	G	9: 7,280,221 (GRCm39)	S384G	possibly damaging	Het
Nalcn	C	T	14: 123,607,444 (GRCm39)	C675Y	probably benign	Het
Nrxn1	A	G	17: 91,396,117 (GRCm39)	L13P	unknown	Het
Ocstamp	A	G	2: 165,239,772 (GRCm39)	V138A	probably damaging	Het
Or12e8	T	G	2: 87,188,026 (GRCm39)	Y79*	probably null	Het
Or2z8	T	A	8: 72,812,006 (GRCm39)	S161T	possibly damaging	Het
Or4a68	A	G	2: 89,270,482 (GRCm39)	V47A	possibly damaging	Het
Or4f7	T	C	2: 111,645,056 (GRCm39)	N5S	probably damaging	Het
Or5p51	A	G	7: 107,444,323 (GRCm39)	S206P	possibly damaging	Het
Or9i1b	T	G	19: 13,896,808 (GRCm39)	C141W	probably damaging	Het
Patj	T	C	4: 98,569,472 (GRCm39)		probably benign	Het
Pcdhb22	A	G	18: 37,651,780 (GRCm39)	I83V	probably benign	Het
Pclo	A	G	5: 14,719,670 (GRCm39)	E1269G	unknown	Het
Plagl2	T	C	2: 153,077,973 (GRCm39)	T3A	probably benign	Het
Plcb1	C	T	2: 135,136,831 (GRCm39)	P309S	possibly damaging	Het
Pld3	A	T	7: 27,239,000 (GRCm39)	L175Q	possibly damaging	Het
Prrx1	A	G	1: 163,075,974 (GRCm39)		probably benign	Het
Psap	T	G	10: 60,135,345 (GRCm39)		probably benign	Het
Ptgfr	G	A	3: 151,540,839 (GRCm39)	T223M	probably damaging	Het
Reep2	A	T	18: 34,973,824 (GRCm39)	I6F	probably benign	Het
Rraga	A	G	4: 86,494,454 (GRCm39)	E100G	probably benign	Het
Rrm2b	T	C	15: 37,931,889 (GRCm39)	D37G	probably benign	Het
Rtl1	T	C	12: 109,559,153 (GRCm39)	I895M	probably damaging	Het
Ryr1	G	A	7: 28,774,034 (GRCm39)	A2445V	probably damaging	Het
Sbf1	C	T	15: 89,186,532 (GRCm39)	D898N	possibly damaging	Het
Sh3d19	G	A	3: 86,022,213 (GRCm39)	V548I	possibly damaging	Het
Shf	C	A	2: 122,199,116 (GRCm39)		probably benign	Het
Sipa1l3	T	C	7: 29,086,676 (GRCm39)	E638G	probably damaging	Het
Slc13a3	G	T	2: 165,253,807 (GRCm39)	P449T	probably damaging	Het
Slc2a13	C	T	15: 91,234,215 (GRCm39)	V374I	possibly damaging	Het
Slc4a7	T	C	14: 14,794,059 (GRCm38)		probably null	Het
Slc7a2	T	A	8: 41,361,568 (GRCm39)	S414T	probably benign	Het
Slc9c1	A	G	16: 45,393,719 (GRCm39)	E554G	probably benign	Het
Smad2	T	C	18: 76,433,064 (GRCm39)	I332T	probably damaging	Het
Snrnp40	C	T	4: 130,256,451 (GRCm39)	P59S	probably damaging	Het
Sorcs2	A	T	5: 36,222,777 (GRCm39)	I154N	probably damaging	Het
Sort1	G	A	3: 108,255,946 (GRCm39)	G631S	probably damaging	Het
Sox10	T	C	15: 79,043,586 (GRCm39)	D149G	possibly damaging	Het
Spn	C	T	7: 126,735,380 (GRCm39)	V376M	possibly damaging	Het
Tacc2	A	G	7: 130,179,239 (GRCm39)	D9G	probably damaging	Het
Tapt1	T	G	5: 44,334,448 (GRCm39)	L514F	possibly damaging	Het
Tcf3	A	G	10: 80,249,168 (GRCm39)	L480P	probably damaging	Het
Tenm4	G	C	7: 96,423,227 (GRCm39)	G637A	probably damaging	Het
Tex14	T	A	11: 87,411,525 (GRCm39)	N950K	probably benign	Het
Tgfbrap1	T	G	1: 43,098,289 (GRCm39)	H497P	probably benign	Het
Tnfrsf18	A	T	4: 156,110,986 (GRCm39)	Y48F	possibly damaging	Het
Tnxb	A	C	17: 34,902,522 (GRCm39)	H1002P	probably damaging	Het
Ttn	A	G	2: 76,593,571 (GRCm39)		probably benign	Het
Ugt2b34	C	G	5: 87,041,591 (GRCm39)		probably null	Het
Vldlr	A	G	19: 27,215,663 (GRCm39)	D220G	possibly damaging	Het
Vmn1r33	A	T	6: 66,589,121 (GRCm39)	Y144*	probably null	Het
Xrcc4	T	C	13: 90,140,594 (GRCm39)	E205G	possibly damaging	Het

Other mutations in Epb41l5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Epb41l5	APN	1	119,495,577 (GRCm39)	missense	probably benign	0.03
IGL01983:Epb41l5	APN	1	119,506,814 (GRCm39)	splice site	probably benign
IGL02085:Epb41l5	APN	1	119,500,586 (GRCm39)	missense	probably benign
IGL02834:Epb41l5	APN	1	119,551,685 (GRCm39)	missense	probably benign	0.22
IGL02975:Epb41l5	APN	1	119,506,811 (GRCm39)	splice site	probably benign
IGL03001:Epb41l5	APN	1	119,545,374 (GRCm39)	missense	probably damaging	1.00
IGL03331:Epb41l5	APN	1	119,545,149 (GRCm39)	missense	probably damaging	1.00
R0096:Epb41l5	UTSW	1	119,551,641 (GRCm39)	splice site	probably benign
R0124:Epb41l5	UTSW	1	119,561,370 (GRCm39)	nonsense	probably null
R0128:Epb41l5	UTSW	1	119,477,632 (GRCm39)	missense	possibly damaging	0.81
R0130:Epb41l5	UTSW	1	119,477,632 (GRCm39)	missense	possibly damaging	0.81
R0241:Epb41l5	UTSW	1	119,495,509 (GRCm39)	splice site	probably null
R0357:Epb41l5	UTSW	1	119,536,934 (GRCm39)	missense	probably damaging	1.00
R0711:Epb41l5	UTSW	1	119,551,641 (GRCm39)	splice site	probably benign
R0848:Epb41l5	UTSW	1	119,477,684 (GRCm39)	missense	probably benign	0.01
R1340:Epb41l5	UTSW	1	119,476,861 (GRCm39)	makesense	probably null
R1401:Epb41l5	UTSW	1	119,506,634 (GRCm39)	splice site	probably benign
R1416:Epb41l5	UTSW	1	119,477,606 (GRCm39)	splice site	probably benign
R1452:Epb41l5	UTSW	1	119,476,896 (GRCm39)	missense	probably damaging	1.00
R1646:Epb41l5	UTSW	1	119,477,752 (GRCm39)	splice site	probably benign
R1889:Epb41l5	UTSW	1	119,476,902 (GRCm39)	missense	possibly damaging	0.82
R1895:Epb41l5	UTSW	1	119,476,902 (GRCm39)	missense	possibly damaging	0.82
R3082:Epb41l5	UTSW	1	119,536,992 (GRCm39)	missense	probably damaging	1.00
R3742:Epb41l5	UTSW	1	119,532,973 (GRCm39)	missense	probably benign
R4194:Epb41l5	UTSW	1	119,535,823 (GRCm39)	missense	probably damaging	1.00
R4787:Epb41l5	UTSW	1	119,523,725 (GRCm39)	missense	probably benign	0.00
R4983:Epb41l5	UTSW	1	119,482,801 (GRCm39)	missense	probably benign	0.00
R6825:Epb41l5	UTSW	1	119,547,931 (GRCm39)	missense	possibly damaging	0.54
R6943:Epb41l5	UTSW	1	119,536,859 (GRCm39)	missense	probably damaging	1.00
R6944:Epb41l5	UTSW	1	119,536,859 (GRCm39)	missense	probably damaging	1.00
R7334:Epb41l5	UTSW	1	119,551,679 (GRCm39)	missense	probably damaging	1.00
R8553:Epb41l5	UTSW	1	119,477,671 (GRCm39)	missense	possibly damaging	0.88
R8904:Epb41l5	UTSW	1	119,547,936 (GRCm39)	missense	probably damaging	1.00
R8955:Epb41l5	UTSW	1	119,570,292 (GRCm39)	missense	probably damaging	1.00
R9147:Epb41l5	UTSW	1	119,570,319 (GRCm39)	missense	probably damaging	1.00
R9258:Epb41l5	UTSW	1	119,506,701 (GRCm39)	missense	probably benign
R9351:Epb41l5	UTSW	1	119,477,639 (GRCm39)	missense	probably benign	0.01
R9366:Epb41l5	UTSW	1	119,548,448 (GRCm39)	missense	probably damaging	1.00
R9370:Epb41l5	UTSW	1	119,561,312 (GRCm39)	missense	probably damaging	1.00
R9680:Epb41l5	UTSW	1	119,535,804 (GRCm39)	missense	probably damaging	1.00
R9779:Epb41l5	UTSW	1	119,545,093 (GRCm39)	critical splice donor site	probably null
Z1177:Epb41l5	UTSW	1	119,536,941 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTAGAGAAGGCTTCTGAGCATGG -3'
(R):5'- GCAGGACAATGCCTGCTTCATTTG -3'

Sequencing Primer
(F):5'- ctgagcatggggccagc -3'
(R):5'- CGTCATAATTTTGAGGGAAGCC -3'

Posted On

2013-07-11