Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02078:1700022I11Rik'

186035

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700022I11Rik

Ensembl Gene

ENSMUSG00000028451

Gene Name

RIKEN cDNA 1700022I11 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL02078

Quality Score

Status

Chromosome

Chromosomal Location

42969604-42983640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 42972685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 673 (K673Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030163] [ENSMUST00000139127] [ENSMUST00000185904] [ENSMUST00000190902]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030163
AA Change: K673Q

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: K673Q

Domain	Start	End	E-Value	Type
low complexity region	38	55	N/A	INTRINSIC
low complexity region	85	93	N/A	INTRINSIC
low complexity region	253	269	N/A	INTRINSIC
internal_repeat_1	322	432	6.53e-5	PROSPERO
low complexity region	434	449	N/A	INTRINSIC
low complexity region	507	521	N/A	INTRINSIC
low complexity region	599	610	N/A	INTRINSIC
internal_repeat_1	622	738	6.53e-5	PROSPERO
low complexity region	847	861	N/A	INTRINSIC
low complexity region	897	908	N/A	INTRINSIC
low complexity region	914	925	N/A	INTRINSIC
low complexity region	944	958	N/A	INTRINSIC
low complexity region	990	1001	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139127

SMART Domains

Protein: ENSMUSP00000116415
Gene: ENSMUSG00000028451

Domain	Start	End	E-Value	Type
low complexity region	38	55	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185904

SMART Domains

Protein: ENSMUSP00000140492
Gene: ENSMUSG00000028451

Domain	Start	End	E-Value	Type
low complexity region	25	33	N/A	INTRINSIC
Pfam:FAM75	99	149	2e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189414

Predicted Effect

probably benign
Transcript: ENSMUST00000190902

SMART Domains

Protein: ENSMUSP00000140363
Gene: ENSMUSG00000028451

Domain	Start	End	E-Value	Type
low complexity region	49	57	N/A	INTRINSIC
low complexity region	217	233	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 60,016,330	D87G	probably benign	Het
Acap1	C	T	11: 69,895,286	R18Q	probably damaging	Het
Atp1a1	A	C	3: 101,591,863	V140G	probably damaging	Het
Bmpr1b	G	A	3: 141,870,737	P112S	possibly damaging	Het
Chst8	T	A	7: 34,675,334	N360I	possibly damaging	Het
Cldn23	A	T	8: 35,826,205	V43E	possibly damaging	Het
Clta	T	C	4: 44,030,232	F168S	probably damaging	Het
Cyp2c40	T	C	19: 39,767,482	I463V	probably benign	Het
E2f2	A	G	4: 136,193,012	D436G	probably damaging	Het
Fbxo24	T	G	5: 137,624,349	T52P	probably damaging	Het
Gria4	G	A	9: 4,793,878	A60V	probably damaging	Het
Grm1	C	T	10: 10,689,610	V985M	probably benign	Het
Hexa	A	G	9: 59,557,303	T159A	probably benign	Het
Inf2	T	A	12: 112,601,614	V200E	probably damaging	Het
Kif20b	T	A	19: 34,935,644	V319E	probably damaging	Het
Klhl10	A	G	11: 100,445,751	D188G	probably benign	Het
Mobp	G	A	9: 120,167,914	R37H	probably damaging	Het
Mybpc2	T	A	7: 44,503,780	D1086V	probably damaging	Het
Nadk	A	C	4: 155,579,403		probably benign	Het
Olfr853	T	A	9: 19,537,453	H159L	probably benign	Het
Per1	A	G	11: 69,104,299	E619G	probably damaging	Het
Rab3gap1	G	A	1: 127,868,915		probably benign	Het
Rimkla	A	G	4: 119,468,147	L355P	probably damaging	Het
Rnf139	A	G	15: 58,900,031	D635G	possibly damaging	Het
Sall1	T	A	8: 89,030,375	N1034Y	probably damaging	Het
Serpinb13	A	T	1: 106,998,958	Q228L	probably damaging	Het
Sin3b	G	T	8: 72,753,580	M903I	possibly damaging	Het
Slco1a5	A	T	6: 142,254,446	M204K	probably benign	Het
Smo	A	G	6: 29,754,708	D259G	possibly damaging	Het
Sult2a4	T	C	7: 13,989,544	I15M	probably benign	Het
Ttn	T	A	2: 76,942,441		probably null	Het
Wdtc1	C	A	4: 133,305,960	D176Y	probably damaging	Het

Other mutations in 1700022I11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:1700022I11Rik	APN	4	42973982	missense	probably benign	0.40
IGL01340:1700022I11Rik	APN	4	42971984	missense	possibly damaging	0.94
IGL02082:1700022I11Rik	APN	4	42970198	missense	probably benign	0.00
IGL02993:1700022I11Rik	APN	4	42971719	missense	probably damaging	0.99
IGL03174:1700022I11Rik	APN	4	42970975	missense	probably benign	0.00
IGL03188:1700022I11Rik	APN	4	42971225	missense	possibly damaging	0.56
R0031:1700022I11Rik	UTSW	4	42973712	missense	probably damaging	0.99
R0179:1700022I11Rik	UTSW	4	42972214	missense	probably benign	0.00
R0409:1700022I11Rik	UTSW	4	42972203	missense	probably damaging	0.98
R0422:1700022I11Rik	UTSW	4	42972199	missense	possibly damaging	0.95
R0462:1700022I11Rik	UTSW	4	42973429	missense	probably benign
R0467:1700022I11Rik	UTSW	4	42972715	missense	probably benign
R0677:1700022I11Rik	UTSW	4	42970952	nonsense	probably null
R0723:1700022I11Rik	UTSW	4	42971691	missense	probably damaging	0.98
R1479:1700022I11Rik	UTSW	4	42972543	missense	possibly damaging	0.55
R1586:1700022I11Rik	UTSW	4	42971512	missense	probably benign	0.03
R1956:1700022I11Rik	UTSW	4	42970105	splice site	probably null
R2030:1700022I11Rik	UTSW	4	42974131	nonsense	probably null
R2074:1700022I11Rik	UTSW	4	42974171	missense	probably benign	0.38
R2162:1700022I11Rik	UTSW	4	42972238	missense	possibly damaging	0.59
R2419:1700022I11Rik	UTSW	4	42974146	missense	possibly damaging	0.94
R2939:1700022I11Rik	UTSW	4	42972946	missense	probably benign	0.04
R3615:1700022I11Rik	UTSW	4	42971864	missense	probably benign	0.10
R3616:1700022I11Rik	UTSW	4	42971864	missense	probably benign	0.10
R3981:1700022I11Rik	UTSW	4	42971534	missense	probably damaging	0.99
R5037:1700022I11Rik	UTSW	4	42972195	missense	probably benign
R5252:1700022I11Rik	UTSW	4	42971706	missense	probably benign	0.00
R5526:1700022I11Rik	UTSW	4	42972125	missense	possibly damaging	0.90
R5642:1700022I11Rik	UTSW	4	42971831	missense	possibly damaging	0.61
R5935:1700022I11Rik	UTSW	4	42971465	missense	probably benign
R6082:1700022I11Rik	UTSW	4	42972511	missense	probably benign	0.27
R6136:1700022I11Rik	UTSW	4	42972853	missense	probably damaging	0.96
R6361:1700022I11Rik	UTSW	4	42972695	missense	probably benign	0.05
R6494:1700022I11Rik	UTSW	4	42971924	missense	possibly damaging	0.94
R6641:1700022I11Rik	UTSW	4	42971245	missense	possibly damaging	0.90
R7289:1700022I11Rik	UTSW	4	42972379	missense	probably benign	0.00
R7289:1700022I11Rik	UTSW	4	42973252	missense	possibly damaging	0.66
R7777:1700022I11Rik	UTSW	4	42970171	nonsense	probably null
R7777:1700022I11Rik	UTSW	4	42971095	missense	probably benign
R7893:1700022I11Rik	UTSW	4	42971539	missense	probably damaging	0.99
R8066:1700022I11Rik	UTSW	4	42971929	missense	possibly damaging	0.66
R8311:1700022I11Rik	UTSW	4	42973169	missense	probably benign	0.19
R8706:1700022I11Rik	UTSW	4	42971776	missense	probably benign	0.02
R8743:1700022I11Rik	UTSW	4	42971030	missense	probably benign	0.00
R8774:1700022I11Rik	UTSW	4	42971087	missense	probably damaging	1.00
R8774-TAIL:1700022I11Rik	UTSW	4	42971087	missense	probably damaging	1.00
R8806:1700022I11Rik	UTSW	4	42971261	missense	probably benign	0.37
R8916:1700022I11Rik	UTSW	4	42973034	missense	probably damaging	1.00
R8927:1700022I11Rik	UTSW	4	42972251	missense	probably benign	0.00
R8928:1700022I11Rik	UTSW	4	42972251	missense	probably benign	0.00
R8947:1700022I11Rik	UTSW	4	42972097	missense	probably benign	0.17
R9193:1700022I11Rik	UTSW	4	42971519	missense	probably benign	0.01

Posted On

2014-05-07