Mutagenetix > Incidental Mutation

Incidental Mutation 'R1838:Ehbp1l1'

205558

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1l1

Ensembl Gene

ENSMUSG00000024937

Gene Name

EH domain binding protein 1-like 1

Synonyms

MMRRC Submission

039865-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5707376-5726317 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5717691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1195 (E1195K)

Ref Sequence

ENSEMBL: ENSMUSP00000037656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049295] [ENSMUST00000075606]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000049295
AA Change: E1195K

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: E1195K

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	164	3.2e-24	PFAM
low complexity region	245	256	N/A	INTRINSIC
low complexity region	276	291	N/A	INTRINSIC
internal_repeat_1	442	821	1.71e-12	PROSPERO
internal_repeat_1	833	1197	1.71e-12	PROSPERO
CH	1212	1310	3.55e-16	SMART
low complexity region	1316	1331	N/A	INTRINSIC
low complexity region	1426	1449	N/A	INTRINSIC
low complexity region	1471	1484	N/A	INTRINSIC
low complexity region	1493	1547	N/A	INTRINSIC
DUF3585	1552	1696	6.7e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075606

SMART Domains

Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	164	3.9e-25	PFAM
CH	268	366	3.55e-16	SMART
low complexity region	372	387	N/A	INTRINSIC
low complexity region	482	505	N/A	INTRINSIC
low complexity region	527	540	N/A	INTRINSIC
low complexity region	549	603	N/A	INTRINSIC
DUF3585	608	752	6.7e-59	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout leads to a reduction in the length and density of small intestinal microvilli, severe anemia, and neonatal lethality. [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
A630073D07Rik	T	C	6: 132,626,727	D22G	unknown	Het
Abca4	G	A	3: 122,128,305	R1170K	probably benign	Het
Adam28	T	C	14: 68,639,210	N197S	possibly damaging	Het
Adamtsl3	G	T	7: 82,493,373	R267L	probably damaging	Het
Adgrb2	A	T	4: 130,010,231	T717S	probably benign	Het
Adgrb3	A	G	1: 25,084,270	S1417P	probably damaging	Het
Afg3l2	A	T	18: 67,414,172	V561D	probably damaging	Het
Atp13a2	T	A	4: 140,994,332	Y244*	probably null	Het
BB014433	C	G	8: 15,042,629	V75L	unknown	Het
Btnl6	T	A	17: 34,515,542	D82V	probably damaging	Het
Ccdc178	A	G	18: 22,067,638	Y421H	probably damaging	Het
Cdc123	A	T	2: 5,794,891		probably null	Het
Cdhr5	C	T	7: 141,272,603	V367I	possibly damaging	Het
Celsr3	A	G	9: 108,829,906	H1196R	probably benign	Het
Chd8	T	C	14: 52,204,883	S2077G	probably benign	Het
Col6a5	G	A	9: 105,864,833	H2296Y	probably benign	Het
Ctnna2	T	C	6: 77,845,542	D26G	probably damaging	Het
Ctr9	G	T	7: 111,052,303	R910L	possibly damaging	Het
Cyp2t4	G	T	7: 27,158,416	R455L	possibly damaging	Het
Cyp3a13	A	T	5: 137,911,632		probably null	Het
Dennd3	T	C	15: 73,565,100	S1059P	probably damaging	Het
Dennd4c	A	G	4: 86,825,178	T1135A	probably benign	Het
Dnah7b	T	C	1: 46,116,177	V295A	probably benign	Het
Dnah7b	C	A	1: 46,277,105	T3126K	probably damaging	Het
Exoc6b	T	A	6: 84,853,678	I447L	probably benign	Het
Glt1d1	G	A	5: 127,678,129	V202I	probably benign	Het
Grk1	T	C	8: 13,416,155	V533A	possibly damaging	Het
Gsdma3	C	T	11: 98,629,858	A105V	probably benign	Het
Gzma	T	A	13: 113,095,984	I131F	probably damaging	Het
Helq	A	T	5: 100,771,879	L35*	probably null	Het
Hnrnpll	T	C	17: 80,038,623	N403S	probably damaging	Het
Hsf5	A	G	11: 87,636,055	K518E	probably benign	Het
Ighe	T	A	12: 113,271,850	H258L	unknown	Het
Il6ra	T	C	3: 89,890,272	D96G	probably benign	Het
Ints13	C	T	6: 146,566,611	A129T	possibly damaging	Het
Ipo7	T	A	7: 110,042,109	H345Q	probably damaging	Het
Kcna2	A	T	3: 107,104,512	E136D	probably benign	Het
Kif5a	G	A	10: 127,236,815	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,967,070	P189T	probably benign	Het
Krtap4-9	A	G	11: 99,785,396		probably benign	Het
Lamc3	T	C	2: 31,925,582	S1097P	possibly damaging	Het
Ldlrad2	A	T	4: 137,572,170	N114K	probably benign	Het
Lrfn1	A	T	7: 28,459,768	I371L	probably damaging	Het
Lrwd1	A	G	5: 136,132,388	V240A	probably benign	Het
Lypd1	A	T	1: 125,873,371		probably benign	Het
Magi2	A	T	5: 20,465,827	T163S	probably damaging	Het
Man2c1	A	G	9: 57,137,337	N354S	probably benign	Het
Map3k13	T	C	16: 21,914,189	Y514H	possibly damaging	Het
Med15	T	C	16: 17,653,562	D577G	probably benign	Het
Mroh4	A	T	15: 74,616,113	M320K	probably benign	Het
Ms4a10	T	A	19: 10,964,047	D186V	possibly damaging	Het
Myh7	T	C	14: 54,973,180	N1725S	possibly damaging	Het
Myo5c	A	T	9: 75,273,553	R741S	probably damaging	Het
Naip6	T	C	13: 100,316,136	D139G	probably damaging	Het
Nat6	G	A	9: 107,583,017	R37H	possibly damaging	Het
Olfr1252	A	T	2: 89,721,709	M134K	probably damaging	Het
Olfr1370	A	T	13: 21,072,425	L292*	probably null	Het
Olfr229	A	T	9: 39,909,841	I13F	possibly damaging	Het
Olfr982	A	T	9: 40,074,309	M5L	probably benign	Het
Pcdhb3	A	G	18: 37,301,317	D112G	probably benign	Het
Pdpr	C	A	8: 111,134,734	P787T	probably damaging	Het
Pgm3	C	T	9: 86,569,233	V123I	probably benign	Het
Pms1	A	C	1: 53,192,098		probably null	Het
Prl2b1	A	G	13: 27,388,566	S14P	possibly damaging	Het
Prune2	T	A	19: 17,199,878	W212R	probably damaging	Het
Rabgef1	A	G	5: 130,213,021	E422G	probably benign	Het
Ralyl	A	G	3: 14,143,412	E204G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rbpms2	TGCCGCCGCC	TGCCGCCGCCGCC	9: 65,651,680		probably benign	Het
Rit1	C	G	3: 88,729,170	T127S	probably damaging	Het
Slc16a7	C	T	10: 125,231,198	V191M	probably damaging	Het
Slc34a2	A	T	5: 53,058,436	H63L	probably benign	Het
Smpd4	G	A	16: 17,642,302		probably null	Het
Sp3	A	G	2: 72,938,176	S748P	possibly damaging	Het
Spata31d1b	G	A	13: 59,715,857	C273Y	probably benign	Het
Spata31d1b	G	A	13: 59,717,465	R809K	probably benign	Het
Tmco5	A	T	2: 116,880,879	E90V	probably damaging	Het
Tnxb	A	T	17: 34,678,910	D844V	probably damaging	Het
Tpi1	T	C	6: 124,814,152	T41A	probably benign	Het
Ttn	T	C	2: 76,727,192	I29853V	probably damaging	Het
Vmn2r26	C	T	6: 124,024,771	T5I	probably benign	Het
Wdr95	A	G	5: 149,599,366	D663G	probably benign	Het
Zbtb39	T	C	10: 127,742,700	F381S	probably damaging	Het
Zfp523	T	A	17: 28,194,993	I34N	probably damaging	Het
Zfp646	T	A	7: 127,879,739	Y363N	probably damaging	Het
Zfp712	A	C	13: 67,042,047	C139G	probably damaging	Het
Zfp958	A	G	8: 4,628,590	H205R	probably damaging	Het
Zfp974	G	A	7: 27,910,356	P648L	possibly damaging	Het

Other mutations in Ehbp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Ehbp1l1	APN	19	5717933	missense	probably benign	0.33
IGL01061:Ehbp1l1	APN	19	5717888	missense	probably benign
IGL01372:Ehbp1l1	APN	19	5715789	splice site	probably benign
IGL01790:Ehbp1l1	APN	19	5722984	missense	probably damaging	0.99
IGL01936:Ehbp1l1	APN	19	5718249	nonsense	probably null
IGL02194:Ehbp1l1	APN	19	5718857	missense	probably benign
IGL02347:Ehbp1l1	APN	19	5719572	missense	possibly damaging	0.72
IGL02372:Ehbp1l1	APN	19	5710834	missense	possibly damaging	0.53
IGL02681:Ehbp1l1	APN	19	5720825	missense	probably damaging	0.98
IGL02824:Ehbp1l1	APN	19	5719298	missense	probably benign
IGL03070:Ehbp1l1	APN	19	5715953	missense	probably benign	0.33
IGL03146:Ehbp1l1	APN	19	5720033	missense	probably benign	0.00
PIT4802001:Ehbp1l1	UTSW	19	5719575	missense	possibly damaging	0.93
R0309:Ehbp1l1	UTSW	19	5720570	missense	possibly damaging	0.72
R0787:Ehbp1l1	UTSW	19	5722668	missense	possibly damaging	0.95
R1156:Ehbp1l1	UTSW	19	5708336	unclassified	probably benign
R1337:Ehbp1l1	UTSW	19	5718230	missense	probably benign	0.00
R1474:Ehbp1l1	UTSW	19	5719084	missense	possibly damaging	0.86
R1501:Ehbp1l1	UTSW	19	5716424	missense	probably damaging	0.98
R1582:Ehbp1l1	UTSW	19	5721967	missense	possibly damaging	0.83
R1766:Ehbp1l1	UTSW	19	5716406	missense	probably damaging	0.98
R1842:Ehbp1l1	UTSW	19	5725930	missense	probably damaging	0.99
R1863:Ehbp1l1	UTSW	19	5717854	missense	probably benign	0.01
R1955:Ehbp1l1	UTSW	19	5710669	missense	possibly damaging	0.51
R2010:Ehbp1l1	UTSW	19	5719283	missense	probably benign
R2098:Ehbp1l1	UTSW	19	5708658	missense	possibly damaging	0.93
R2099:Ehbp1l1	UTSW	19	5718401	missense	possibly damaging	0.72
R2852:Ehbp1l1	UTSW	19	5716487	missense	probably damaging	0.99
R3113:Ehbp1l1	UTSW	19	5718980	missense	probably benign	0.38
R3799:Ehbp1l1	UTSW	19	5719115	missense	probably benign	0.33
R3891:Ehbp1l1	UTSW	19	5718312	missense	possibly damaging	0.73
R3964:Ehbp1l1	UTSW	19	5710573	critical splice donor site	probably null
R3966:Ehbp1l1	UTSW	19	5710573	critical splice donor site	probably null
R4335:Ehbp1l1	UTSW	19	5708769	missense	probably damaging	0.98
R4434:Ehbp1l1	UTSW	19	5716248	missense	possibly damaging	0.93
R4457:Ehbp1l1	UTSW	19	5716293	missense	possibly damaging	0.83
R4597:Ehbp1l1	UTSW	19	5717927	missense	possibly damaging	0.72
R4726:Ehbp1l1	UTSW	19	5719176	missense	possibly damaging	0.70
R4761:Ehbp1l1	UTSW	19	5719847	missense	possibly damaging	0.93
R4771:Ehbp1l1	UTSW	19	5725968	missense	probably damaging	1.00
R5402:Ehbp1l1	UTSW	19	5716320	missense	possibly damaging	0.91
R5436:Ehbp1l1	UTSW	19	5716248	missense	possibly damaging	0.93
R5602:Ehbp1l1	UTSW	19	5708670	missense	possibly damaging	0.85
R5893:Ehbp1l1	UTSW	19	5718431	missense	probably benign
R6329:Ehbp1l1	UTSW	19	5718767	missense	possibly damaging	0.53
R6416:Ehbp1l1	UTSW	19	5718757	missense	probably benign	0.01
R7106:Ehbp1l1	UTSW	19	5718737	missense	probably benign	0.33
R7262:Ehbp1l1	UTSW	19	5718446	nonsense	probably null
R7304:Ehbp1l1	UTSW	19	5716382	missense	probably damaging	1.00
R7317:Ehbp1l1	UTSW	19	5720702	missense	probably benign	0.44
R7404:Ehbp1l1	UTSW	19	5720844	missense	possibly damaging	0.72
R7447:Ehbp1l1	UTSW	19	5719428	missense	possibly damaging	0.53
R7862:Ehbp1l1	UTSW	19	5720823	missense	probably benign
R7881:Ehbp1l1	UTSW	19	5719398	missense	probably benign
R7910:Ehbp1l1	UTSW	19	5716424	missense	probably benign	0.28
R8239:Ehbp1l1	UTSW	19	5720061	missense	possibly damaging	0.53
R8309:Ehbp1l1	UTSW	19	5717075	missense	probably damaging	1.00
R8324:Ehbp1l1	UTSW	19	5719998	missense	possibly damaging	0.86
R8724:Ehbp1l1	UTSW	19	5715858	missense	possibly damaging	0.73
R9260:Ehbp1l1	UTSW	19	5719250	missense	probably benign	0.07
R9453:Ehbp1l1	UTSW	19	5708343	missense	unknown
RF053:Ehbp1l1	UTSW	19	5716002	small deletion	probably benign
Z1088:Ehbp1l1	UTSW	19	5716287	missense	possibly damaging	0.77
Z1176:Ehbp1l1	UTSW	19	5717889	missense	probably benign
Z1177:Ehbp1l1	UTSW	19	5718762	missense	probably damaging	0.99
Z1177:Ehbp1l1	UTSW	19	5719101	missense	probably benign	0.07
Z1177:Ehbp1l1	UTSW	19	5719102	missense	probably benign	0.01
Z1177:Ehbp1l1	UTSW	19	5719434	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGGACCTTCTTGAAACTGAAACACC -3'
(R):5'- ATCTTGGACTTTGGGGCAGC -3'

Sequencing Primer
(F):5'- CAGAGCCACTGTTCAATC -3'
(R):5'- GGGTTTGAGTCTCCAGAGAATAAATC -3'

Posted On

2014-06-23