Mutagenetix > Incidental Mutation

Incidental Mutation 'R1127:1700088E04Rik'

96347

Institutional Source

Beutler Lab

Gene Symbol

1700088E04Rik

Ensembl Gene

ENSMUSG00000033029

Gene Name

RIKEN cDNA 1700088E04 gene

Synonyms

Mus EST J0827E04

MMRRC Submission

039200-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1127 (G1)

Quality Score

104

Status

Not validated

Chromosome

Chromosomal Location

79018855-79025451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79019403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 179 (D179G)

Ref Sequence

ENSEMBL: ENSMUSP00000140611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040320] [ENSMUST00000169604] [ENSMUST00000186053] [ENSMUST00000186459] [ENSMUST00000187550] [ENSMUST00000190730] [ENSMUST00000190509] [ENSMUST00000190959] [ENSMUST00000188562] [ENSMUST00000229031] [ENSMUST00000189761]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040320

SMART Domains

Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039

Domain	Start	End	E-Value	Type
CH	4	103	5.64e-19	SMART
low complexity region	113	135	N/A	INTRINSIC
LIM	164	219	1.15e-5	SMART
low complexity region	241	250	N/A	INTRINSIC
low complexity region	375	394	N/A	INTRINSIC
low complexity region	414	467	N/A	INTRINSIC
low complexity region	477	497	N/A	INTRINSIC
low complexity region	515	530	N/A	INTRINSIC
low complexity region	571	586	N/A	INTRINSIC
DUF3585	685	825	5.07e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169604
AA Change: D200G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129244
Gene: ENSMUSG00000033029
AA Change: D200G

Domain	Start	End	E-Value	Type
Pfam:UPF0193	4	213	3.2e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185944

Predicted Effect

probably benign
Transcript: ENSMUST00000186053

SMART Domains

Protein: ENSMUSP00000140261
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	58	3.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186459

SMART Domains

Protein: ENSMUSP00000139974
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	54	5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186559

Predicted Effect

unknown
Transcript: ENSMUST00000187550
AA Change: D139G

SMART Domains

Protein: ENSMUSP00000140978
Gene: ENSMUSG00000033029
AA Change: D139G

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	57	2.1e-22	PFAM
Pfam:UPF0193	54	155	8.3e-42	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000190730
AA Change: D139G

SMART Domains

Protein: ENSMUSP00000139884
Gene: ENSMUSG00000033029
AA Change: D139G

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	57	2.1e-22	PFAM
Pfam:UPF0193	54	155	8.3e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190509
AA Change: D179G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140611
Gene: ENSMUSG00000033029
AA Change: D179G

Domain	Start	End	E-Value	Type
Pfam:UPF0193	33	195	4.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190959
AA Change: D200G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140347
Gene: ENSMUSG00000033029
AA Change: D200G

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	216	1.5e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188562
AA Change: D27G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000229031

Predicted Effect

probably benign
Transcript: ENSMUST00000191006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229694

Predicted Effect

probably benign
Transcript: ENSMUST00000189761

SMART Domains

Protein: ENSMUSP00000139736
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	39	4.9e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230779

Predicted Effect

probably benign
Transcript: ENSMUST00000190400

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.1%
20x: 80.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	G	A	3: 59,659,314 (GRCm39)	E256K	probably benign	Het
Adh7	C	T	3: 137,927,490 (GRCm39)	A12V	probably benign	Het
Ankhd1	T	A	18: 36,767,399 (GRCm39)	N1179K	probably damaging	Het
Ankrd50	T	C	3: 38,511,336 (GRCm39)	T344A	probably benign	Het
Aplf	T	C	6: 87,623,273 (GRCm39)	T269A	probably benign	Het
Cavin4	T	C	4: 48,663,637 (GRCm39)	S6P	probably damaging	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cyp2c66	A	T	19: 39,151,812 (GRCm39)	N176Y	probably damaging	Het
Dnah3	T	A	7: 119,522,253 (GRCm39)	D3980V	probably damaging	Het
Drc7	G	T	8: 95,799,416 (GRCm39)	E530D	probably damaging	Het
Dst	A	G	1: 34,314,358 (GRCm39)	T6434A	probably damaging	Het
Dtx3l	A	G	16: 35,759,127 (GRCm39)	S41P	possibly damaging	Het
Eef1b2	G	A	1: 63,218,616 (GRCm39)		probably null	Het
Eml3	C	T	19: 8,913,672 (GRCm39)	T43I	probably damaging	Het
Fam110b	T	A	4: 5,799,434 (GRCm39)	L284Q	probably damaging	Het
Gpr33	A	C	12: 52,070,252 (GRCm39)	H262Q	probably damaging	Het
Igfals	T	G	17: 25,099,455 (GRCm39)	L182R	probably damaging	Het
Lamc1	A	G	1: 153,126,205 (GRCm39)	F496L	possibly damaging	Het
Muc4	T	A	16: 32,569,343 (GRCm39)	H134Q	possibly damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nxn	A	T	11: 76,164,895 (GRCm39)	C205*	probably null	Het
Oga	G	A	19: 45,740,594 (GRCm39)	R914*	probably null	Het
Or11l3	T	C	11: 58,516,284 (GRCm39)	E196G	probably damaging	Het
Or52h9	C	A	7: 104,202,293 (GRCm39)	H56N	possibly damaging	Het
Pamr1	A	T	2: 102,469,698 (GRCm39)	I415F	possibly damaging	Het
Ppp4r4	G	A	12: 103,545,327 (GRCm39)	G200E	probably damaging	Het
Pramel29	G	A	4: 143,933,694 (GRCm39)	T471I	probably damaging	Het
Prdm16	C	A	4: 154,613,256 (GRCm39)	S57I	probably damaging	Het
Psmd11	A	G	11: 80,362,410 (GRCm39)	K157R	possibly damaging	Het
Ptprn2	G	A	12: 117,175,628 (GRCm39)		probably null	Het
Pus7	G	A	5: 23,973,793 (GRCm39)	H234Y	probably benign	Het
Rd3l	A	G	12: 111,946,717 (GRCm39)	Y20H	probably benign	Het
Stk31	A	G	6: 49,386,141 (GRCm39)	D160G	probably damaging	Het
Sycp2	C	T	2: 178,016,159 (GRCm39)	E768K	possibly damaging	Het
Tango6	T	C	8: 107,415,527 (GRCm39)	V116A	probably benign	Het
Ttn	C	T	2: 76,697,574 (GRCm39)		probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Xylb	T	C	9: 119,212,443 (GRCm39)	I427T	probably damaging	Het
Zc3h7a	T	G	16: 10,956,939 (GRCm39)	D890A	probably damaging	Het

Other mutations in 1700088E04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01721:1700088E04Rik	APN	15	79,023,453 (GRCm39)	missense	possibly damaging	0.88
R2184:1700088E04Rik	UTSW	15	79,019,389 (GRCm39)	missense	probably damaging	1.00
R4832:1700088E04Rik	UTSW	15	79,019,409 (GRCm39)	missense	probably damaging	1.00
R6870:1700088E04Rik	UTSW	15	79,020,608 (GRCm39)	missense	probably benign	0.00
R7798:1700088E04Rik	UTSW	15	79,019,932 (GRCm39)	missense	probably damaging	0.97
R9495:1700088E04Rik	UTSW	15	79,019,842 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGACACTGTTTCATGCCACAGGAC -3'
(R):5'- ATCTTTGCCACTGGGAAGGACAAG -3'

Sequencing Primer
(F):5'- TTTCATGCCACAGGACAAAGC -3'
(R):5'- gtgtgtgtgtgtAGAACTGATG -3'

Posted On

2014-01-05