Mutagenetix > Incidental Mutation

Incidental Mutation 'R2050:D7Ertd443e'

226336

Institutional Source

Beutler Lab

Gene Symbol

D7Ertd443e

Ensembl Gene

ENSMUSG00000030994

Gene Name

DNA segment, Chr 7, ERATO Doi 443, expressed

Synonyms

4933400E14Rik

MMRRC Submission

040057-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2050 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133867508-134102889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133868527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 659 (E659D)

Ref Sequence

ENSEMBL: ENSMUSP00000134479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094002] [ENSMUST00000106129] [ENSMUST00000172947] [ENSMUST00000174700]

AlphaFold

D2J0Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000094002
AA Change: E612D

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

SMART Domains

Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: E612D

Domain	Start	End	E-Value	Type
low complexity region	179	192	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
low complexity region	279	292	N/A	INTRINSIC
low complexity region	396	410	N/A	INTRINSIC
low complexity region	478	494	N/A	INTRINSIC
Pfam:ALMS_motif	511	644	3.7e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106129
AA Change: E253D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101735
Gene: ENSMUSG00000030994
AA Change: E253D

Domain	Start	End	E-Value	Type
low complexity region	37	51	N/A	INTRINSIC
low complexity region	119	135	N/A	INTRINSIC
Pfam:ALMS_motif	152	285	7.4e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172947
AA Change: E659D

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

SMART Domains

Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: E659D

Domain	Start	End	E-Value	Type
low complexity region	226	239	N/A	INTRINSIC
low complexity region	285	296	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC
low complexity region	443	457	N/A	INTRINSIC
low complexity region	525	541	N/A	INTRINSIC
Pfam:ALMS_motif	559	689	1.2e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174700

SMART Domains

Protein: ENSMUSP00000134411
Gene: ENSMUSG00000030994

Domain	Start	End	E-Value	Type
Pfam:ALMS_motif	25	98	2.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206005

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	G	T	10: 126,916,130 (GRCm39)	E214*	probably null	Het
Angpt2	G	T	8: 18,755,673 (GRCm39)	P265T	probably benign	Het
Apc2	C	A	10: 80,143,443 (GRCm39)		probably null	Het
Arpc1b	C	T	5: 145,062,729 (GRCm39)	P250S	probably damaging	Het
Atxn10	T	G	15: 85,249,513 (GRCm39)	V115G	probably benign	Het
Bace2	T	A	16: 97,213,336 (GRCm39)	C100S	probably damaging	Het
Bpifb9b	T	C	2: 154,151,524 (GRCm39)	S82P	possibly damaging	Het
Cacna1g	A	G	11: 94,300,300 (GRCm39)	S2157P	probably damaging	Het
Cacnb4	T	A	2: 52,359,598 (GRCm39)	I104L	probably damaging	Het
Ccdc121	T	C	5: 31,643,402 (GRCm39)	I44T	possibly damaging	Het
Cdh6	T	A	15: 13,057,587 (GRCm39)	M245L	probably benign	Het
Celsr1	A	C	15: 85,914,748 (GRCm39)	V1075G	probably benign	Het
Cfap61	T	C	2: 145,987,393 (GRCm39)	F1065L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Colgalt1	T	C	8: 72,070,330 (GRCm39)		probably null	Het
Ctnnal1	A	T	4: 56,835,350 (GRCm39)	V309D	probably benign	Het
Dab2	T	C	15: 6,464,696 (GRCm39)	Y516H	possibly damaging	Het
Dnah14	T	C	1: 181,580,127 (GRCm39)	L3099P	probably damaging	Het
Frem3	A	G	8: 81,341,520 (GRCm39)	E1271G	probably damaging	Het
Grap2	A	G	15: 80,530,444 (GRCm39)	H188R	probably benign	Het
Grin2c	T	C	11: 115,148,245 (GRCm39)	D344G	possibly damaging	Het
Hmcn2	T	C	2: 31,225,448 (GRCm39)	M119T	probably damaging	Het
Hsd11b2	A	G	8: 106,249,992 (GRCm39)	I368V	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1bl2	T	A	19: 34,596,870 (GRCm39)	N249Y	possibly damaging	Het
Igsf8	T	A	1: 172,146,432 (GRCm39)	Y36N	probably damaging	Het
Lrp12	G	A	15: 39,735,985 (GRCm39)	S649L	probably damaging	Het
Map2	T	C	1: 66,453,473 (GRCm39)	S788P	probably damaging	Het
Mast4	T	C	13: 102,887,917 (GRCm39)	D1164G	probably damaging	Het
Mcm9	A	G	10: 53,488,921 (GRCm39)		probably null	Het
Myo5a	G	A	9: 75,054,156 (GRCm39)	E355K	probably benign	Het
Myo9b	T	A	8: 71,743,194 (GRCm39)	V85E	probably damaging	Het
Nbeal1	G	A	1: 60,332,123 (GRCm39)		probably null	Het
Nlrx1	A	T	9: 44,174,077 (GRCm39)	W375R	probably damaging	Het
Pik3c2a	A	G	7: 116,016,686 (GRCm39)		probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Plk4	T	A	3: 40,764,815 (GRCm39)	M603K	probably benign	Het
Rfx7	T	A	9: 72,524,748 (GRCm39)	V646E	probably benign	Het
Slc28a2b	T	C	2: 122,353,349 (GRCm39)	S510P	probably benign	Het
Slc9a1	A	G	4: 133,143,645 (GRCm39)	H377R	probably benign	Het
Snrnp70	A	C	7: 45,036,724 (GRCm39)	Y61*	probably null	Het
Spatc1l	T	C	10: 76,399,892 (GRCm39)	L138P	probably damaging	Het
Spink5	T	C	18: 44,140,825 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,892,250 (GRCm39)	S1055T	probably benign	Het
Tas2r104	T	A	6: 131,662,083 (GRCm39)	M209L	probably damaging	Het
Tdrd12	C	T	7: 35,228,672 (GRCm39)	V17I	probably damaging	Het
Tmem129	C	A	5: 33,815,126 (GRCm39)	A16S	probably benign	Het
Tmtc1	T	C	6: 148,164,381 (GRCm39)	E584G	probably damaging	Het
Trank1	C	A	9: 111,193,856 (GRCm39)	H627N	probably damaging	Het
Trio	T	C	15: 27,852,031 (GRCm39)	D820G	possibly damaging	Het
Trpt1	T	A	19: 6,975,452 (GRCm39)	N98K	probably damaging	Het
Ube4b	A	T	4: 149,429,069 (GRCm39)	F857I	probably damaging	Het
Vmn2r45	A	G	7: 8,475,021 (GRCm39)	V669A	probably damaging	Het
Vmn2r71	A	G	7: 85,273,681 (GRCm39)	I832V	probably damaging	Het
Zbtb20	T	A	16: 43,429,975 (GRCm39)		probably null	Het
Zfyve9	A	C	4: 108,575,800 (GRCm39)	M427R	probably benign	Het
Zfyve9	A	T	4: 108,576,500 (GRCm39)	F194I	possibly damaging	Het

Other mutations in D7Ertd443e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02159:D7Ertd443e	APN	7	133,951,129 (GRCm39)	missense	possibly damaging	0.56
R0369:D7Ertd443e	UTSW	7	133,899,866 (GRCm39)	missense	possibly damaging	0.56
R0501:D7Ertd443e	UTSW	7	133,896,701 (GRCm39)	missense	probably damaging	1.00
R1073:D7Ertd443e	UTSW	7	133,871,947 (GRCm39)	missense	probably damaging	1.00
R1083:D7Ertd443e	UTSW	7	133,950,663 (GRCm39)	nonsense	probably null
R1744:D7Ertd443e	UTSW	7	133,951,142 (GRCm39)	missense	probably benign	0.00
R1801:D7Ertd443e	UTSW	7	133,871,941 (GRCm39)	missense	probably damaging	1.00
R1807:D7Ertd443e	UTSW	7	133,895,034 (GRCm39)	missense	probably null	1.00
R2273:D7Ertd443e	UTSW	7	133,871,930 (GRCm39)	missense	probably damaging	1.00
R2274:D7Ertd443e	UTSW	7	133,871,930 (GRCm39)	missense	probably damaging	1.00
R2504:D7Ertd443e	UTSW	7	133,951,208 (GRCm39)	splice site	probably null
R3699:D7Ertd443e	UTSW	7	133,950,797 (GRCm39)	missense	probably damaging	1.00
R4348:D7Ertd443e	UTSW	7	133,950,682 (GRCm39)	frame shift	probably null
R4516:D7Ertd443e	UTSW	7	133,895,057 (GRCm39)	missense	probably damaging	1.00
R5123:D7Ertd443e	UTSW	7	133,951,397 (GRCm39)	splice site	probably null
R5440:D7Ertd443e	UTSW	7	133,951,004 (GRCm39)	missense	probably damaging	0.96
R5555:D7Ertd443e	UTSW	7	133,951,320 (GRCm39)	missense	probably benign	0.00
R5711:D7Ertd443e	UTSW	7	133,951,110 (GRCm39)	missense	probably benign	0.43
R5848:D7Ertd443e	UTSW	7	133,951,451 (GRCm39)	missense	possibly damaging	0.92
R6049:D7Ertd443e	UTSW	7	133,899,961 (GRCm39)	missense	probably benign	0.01
R6266:D7Ertd443e	UTSW	7	133,951,514 (GRCm39)	missense	probably damaging	1.00
R6408:D7Ertd443e	UTSW	7	133,951,440 (GRCm39)	missense	probably benign	0.27
R6939:D7Ertd443e	UTSW	7	133,966,208 (GRCm39)	splice site	probably null
R7195:D7Ertd443e	UTSW	7	133,896,851 (GRCm39)	missense	probably damaging	1.00
R7352:D7Ertd443e	UTSW	7	133,951,123 (GRCm39)	missense	probably benign	0.03
R7737:D7Ertd443e	UTSW	7	133,871,930 (GRCm39)	missense	probably damaging	1.00
R7843:D7Ertd443e	UTSW	7	133,950,824 (GRCm39)	missense	possibly damaging	0.93
R7845:D7Ertd443e	UTSW	7	133,871,977 (GRCm39)	missense	probably damaging	1.00
R8346:D7Ertd443e	UTSW	7	133,950,485 (GRCm39)	missense	possibly damaging	0.63
R9120:D7Ertd443e	UTSW	7	133,871,986 (GRCm39)	missense	probably damaging	1.00
R9166:D7Ertd443e	UTSW	7	133,900,048 (GRCm39)	missense	probably benign	0.01
R9773:D7Ertd443e	UTSW	7	133,959,803 (GRCm39)	missense	probably benign	0.00
Z1088:D7Ertd443e	UTSW	7	133,896,711 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGCCACCTGGGATCAAACTG -3'
(R):5'- CAGGGCCACTATGAATTTCATTAGG -3'

Sequencing Primer
(F):5'- GGGATCAAACTGCATTCCTTTG -3'
(R):5'- CTCAGTTGACTTAGAGGGCC -3'

Posted On

2014-09-17