Mutagenetix > Incidental Mutation

Incidental Mutation 'R5440:D7Ertd443e'

428584

Institutional Source

Beutler Lab

Gene Symbol

D7Ertd443e

Ensembl Gene

ENSMUSG00000030994

Gene Name

DNA segment, Chr 7, ERATO Doi 443, expressed

Synonyms

MMRRC Submission

043005-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5440 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134265779-134385661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134349275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 223 (T223I)

Ref Sequence

ENSEMBL: ENSMUSP00000134479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094002] [ENSMUST00000172947] [ENSMUST00000173195] [ENSMUST00000173754] [ENSMUST00000174700]

AlphaFold

D2J0Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000094002
AA Change: T176I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: T176I

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: ENSMUST00000172947
AA Change: T223I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: T223I

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: ENSMUST00000173195

Predicted Effect

probably benign
Transcript: ENSMUST00000173754

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	G	T	18: 34,221,160		probably benign	Het
Apol11b	T	A	15: 77,635,593	K96*	probably null	Het
Arhgap35	C	T	7: 16,562,924	G739S	probably damaging	Het
Atp6v0a4	A	C	6: 38,092,817	F47V	probably damaging	Het
Bcl9	G	A	3: 97,210,565	P271L	probably benign	Het
Cd109	T	C	9: 78,680,164		probably null	Het
Col12a1	T	A	9: 79,614,363	I2771F	probably benign	Het
Col6a1	A	G	10: 76,723,454	V116A	probably damaging	Het
Cpsf2	C	G	12: 101,996,879	L401V	probably benign	Het
Cwf19l2	G	A	9: 3,475,549	E829K	probably damaging	Het
Dtx4	G	A	19: 12,492,317	R149C	probably damaging	Het
Fam186b	C	T	15: 99,273,853	A838T	possibly damaging	Het
Fzd4	G	T	7: 89,408,118	E458*	probably null	Het
Gm17669	C	T	18: 67,562,456	P24S	possibly damaging	Het
Grin2b	C	T	6: 135,736,306	G859D	probably damaging	Het
Gucy2e	T	C	11: 69,223,646	Y1019C	probably damaging	Het
Gzme	T	A	14: 56,118,453	N134I	possibly damaging	Het
Havcr1	A	T	11: 46,752,370	Y39F	probably damaging	Het
Hint3	A	T	10: 30,618,351	M1K	probably null	Het
Hspa4l	A	G	3: 40,781,576	K543R	probably damaging	Het
Ifna9	A	G	4: 88,591,811		probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Lipo2	A	G	19: 33,720,858	I373T	probably benign	Het
Myo5c	T	A	9: 75,258,125	I405N	possibly damaging	Het
Olfr517	T	C	7: 108,868,626	H176R	probably damaging	Het
P2rx1	A	G	11: 73,008,503	M108V	probably benign	Het
Pcsk2	T	A	2: 143,546,543	V18E	probably benign	Het
Pigr	A	T	1: 130,849,622		probably null	Het
Pkp1	A	T	1: 135,882,492	C447S	probably benign	Het
Prom1	T	A	5: 44,058,646	I96F	probably benign	Het
Prpf4b	T	C	13: 34,884,093		probably benign	Het
Ropn1	C	A	16: 34,671,172	D102E	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Sphk1	T	G	11: 116,534,888	V17G	possibly damaging	Het
Syngr1	A	G	15: 80,098,018	N2S	probably benign	Het
Syt9	T	G	7: 107,502,123	S359A	possibly damaging	Het
Terb1	T	C	8: 104,488,499	I282V	probably damaging	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Ttn	A	T	2: 76,909,256	D3646E	probably benign	Het
Ube2d1	A	G	10: 71,255,852	W141R	probably damaging	Het
Vmn2r41	T	A	7: 8,138,363	I701F	probably damaging	Het
Zfp770	T	C	2: 114,196,115	D491G	probably benign	Het

Other mutations in D7Ertd443e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02159:D7Ertd443e	APN	7	134349400	missense	possibly damaging	0.56
R0369:D7Ertd443e	UTSW	7	134298137	missense	possibly damaging	0.56
R0501:D7Ertd443e	UTSW	7	134294972	missense	probably damaging	1.00
R1073:D7Ertd443e	UTSW	7	134270218	missense	probably damaging	1.00
R1083:D7Ertd443e	UTSW	7	134348934	nonsense	probably null
R1744:D7Ertd443e	UTSW	7	134349413	missense	probably benign	0.00
R1801:D7Ertd443e	UTSW	7	134270212	missense	probably damaging	1.00
R1807:D7Ertd443e	UTSW	7	134293305	missense	probably null	1.00
R2050:D7Ertd443e	UTSW	7	134266798	missense	probably damaging	1.00
R2273:D7Ertd443e	UTSW	7	134270201	missense	probably damaging	1.00
R2274:D7Ertd443e	UTSW	7	134270201	missense	probably damaging	1.00
R2504:D7Ertd443e	UTSW	7	134349479	splice site	probably null
R3699:D7Ertd443e	UTSW	7	134349068	missense	probably damaging	1.00
R4348:D7Ertd443e	UTSW	7	134348953	frame shift	probably null
R4516:D7Ertd443e	UTSW	7	134293328	missense	probably damaging	1.00
R5123:D7Ertd443e	UTSW	7	134349668	splice site	probably null
R5555:D7Ertd443e	UTSW	7	134349591	missense	probably benign	0.00
R5711:D7Ertd443e	UTSW	7	134349381	missense	probably benign	0.43
R5848:D7Ertd443e	UTSW	7	134349722	missense	possibly damaging	0.92
R6049:D7Ertd443e	UTSW	7	134298232	missense	probably benign	0.01
R6266:D7Ertd443e	UTSW	7	134349785	missense	probably damaging	1.00
R6408:D7Ertd443e	UTSW	7	134349711	missense	probably benign	0.27
R6939:D7Ertd443e	UTSW	7	134364479	splice site	probably null
R7195:D7Ertd443e	UTSW	7	134295122	missense	probably damaging	1.00
R7352:D7Ertd443e	UTSW	7	134349394	missense	probably benign	0.03
R7737:D7Ertd443e	UTSW	7	134270201	missense	probably damaging	1.00
R7843:D7Ertd443e	UTSW	7	134349095	missense	possibly damaging	0.93
R7845:D7Ertd443e	UTSW	7	134270248	missense	probably damaging	1.00
R8346:D7Ertd443e	UTSW	7	134348756	missense	possibly damaging	0.63
R9120:D7Ertd443e	UTSW	7	134270257	missense	probably damaging	1.00
R9166:D7Ertd443e	UTSW	7	134298319	missense	probably benign	0.01
R9773:D7Ertd443e	UTSW	7	134358074	missense	probably benign	0.00
Z1088:D7Ertd443e	UTSW	7	134294982	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TAACTGGTGGGAACTACAGCGG -3'
(R):5'- AGCCAAGGATGCTCTGTTCC -3'

Sequencing Primer
(F):5'- ACAGACCTGTGCATTTTGGG -3'
(R):5'- CCAAGGATGCTCTGTTCCAAGAG -3'

Posted On

2016-09-01