Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03334:9930111J21Rik1'

416949

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9930111J21Rik1

Ensembl Gene

ENSMUSG00000069893

Gene Name

RIKEN cDNA 9930111J21 gene 1

Synonyms

9930111J21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

48946150-48979398 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48947475 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 762 (F762L)

Ref Sequence

ENSEMBL: ENSMUSP00000095102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059930] [ENSMUST00000097494] [ENSMUST00000104958]

AlphaFold

Q5SVP0

Predicted Effect

probably benign
Transcript: ENSMUST00000059930

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852

Domain	Start	End	E-Value	Type
Pfam:IIGP	27	389	8.4e-123	PFAM
Pfam:MMR_HSR1	63	190	2.2e-9	PFAM
low complexity region	421	432	N/A	INTRINSIC
Pfam:IIGP	438	811	3.4e-152	PFAM
Pfam:MMR_HSR1	474	632	1.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097494
AA Change: F762L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: F762L

Domain	Start	End	E-Value	Type
Pfam:IIGP	36	398	2e-125	PFAM
Pfam:DLIC	52	107	3.2e-5	PFAM
Pfam:MMR_HSR1	72	235	2e-11	PFAM
low complexity region	430	444	N/A	INTRINSIC
Pfam:IIGP	447	820	1.9e-153	PFAM
Pfam:MMR_HSR1	483	611	3.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000104958

SMART Domains

Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	11	71	1.2e-26	PFAM
Pfam:PA28_beta	93	237	5.3e-58	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	A	T	8: 3,388,023	I286F	probably benign	Het
Angpt1	T	A	15: 42,496,412	E208V	possibly damaging	Het
Arhgef5	T	C	6: 43,274,000	S562P	possibly damaging	Het
Asb6	T	C	2: 30,824,484	T205A	probably benign	Het
B4galnt4	G	A	7: 141,067,441		probably null	Het
Clca4a	A	T	3: 144,953,866	M743K	probably benign	Het
Col14a1	T	C	15: 55,448,821		probably benign	Het
Col27a1	A	T	4: 63,314,722	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,840,497	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,240,837		probably null	Het
Fnbp1l	A	G	3: 122,557,949	V315A	probably benign	Het
Gm17174	T	A	14: 51,591,963	R48*	probably null	Het
Golga4	C	T	9: 118,537,233		probably benign	Het
Grin1	C	T	2: 25,298,393		probably null	Het
Ifi203	T	A	1: 173,937,835	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,769,923	S93P	probably benign	Het
Il27ra	A	G	8: 84,031,122	V594A	probably benign	Het
Krr1	T	G	10: 111,980,054	S275R	probably benign	Het
Lars	T	C	18: 42,221,506	D792G	probably benign	Het
Myo1f	G	A	17: 33,598,194	R737H	probably damaging	Het
Nebl	T	A	2: 17,413,711	H292L	probably damaging	Het
Nell1	C	A	7: 50,062,611		probably null	Het
Nktr	T	C	9: 121,748,176	F412L	probably benign	Het
Nlrp3	T	A	11: 59,549,016	I473N	probably damaging	Het
Olfr338	T	C	2: 36,377,051	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,805,729	V1383A	probably damaging	Het
Prss48	T	C	3: 85,997,318	E191G	probably damaging	Het
Psg25	T	A	7: 18,529,774	L41F	probably benign	Het
Sema3b	A	G	9: 107,604,077	L78P	probably damaging	Het
Spen	G	T	4: 141,469,969	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,584,199	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,281,665		probably benign	Het
Vmn1r218	T	C	13: 23,136,618	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,786,494	Y748F	probably damaging	Het
Vps18	C	T	2: 119,297,482	R929W	probably damaging	Het
Xpnpep1	T	C	19: 53,010,146	K224E	probably damaging	Het
Zbed5	T	A	5: 129,902,355	F382I	possibly damaging	Het

Other mutations in 9930111J21Rik1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:9930111J21Rik1	APN	11	48948212	missense	possibly damaging	0.66
IGL02189:9930111J21Rik1	APN	11	48947421	missense	probably benign	0.09
IGL02554:9930111J21Rik1	APN	11	48948003	missense	probably damaging	1.00
IGL03172:9930111J21Rik1	APN	11	48948176	missense	probably damaging	1.00
R0502:9930111J21Rik1	UTSW	11	48947495	missense	possibly damaging	0.69
R0503:9930111J21Rik1	UTSW	11	48947495	missense	possibly damaging	0.69
R2023:9930111J21Rik1	UTSW	11	48948420	missense	possibly damaging	0.51
R3704:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R3705:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R3714:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R3715:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R3961:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R3962:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R4867:9930111J21Rik1	UTSW	11	48948548	critical splice acceptor site	probably null
R5033:9930111J21Rik1	UTSW	11	48947706	missense	probably damaging	1.00
R5159:9930111J21Rik1	UTSW	11	48948525	missense	probably benign	0.06
R6567:9930111J21Rik1	UTSW	11	48948123	missense	probably benign	0.26
R6774:9930111J21Rik1	UTSW	11	48947316	missense	possibly damaging	0.94
R7730:9930111J21Rik1	UTSW	11	48947876	missense	probably benign	0.19
R7863:9930111J21Rik1	UTSW	11	48947274	missense	probably benign	0.18
R8408:9930111J21Rik1	UTSW	11	48948002	missense	probably damaging	1.00
R9381:9930111J21Rik1	UTSW	11	48948377	missense	probably damaging	1.00
R9400:9930111J21Rik1	UTSW	11	48948417	missense	possibly damaging	0.82
R9493:9930111J21Rik1	UTSW	11	48947364	missense	probably damaging	1.00
R9560:9930111J21Rik1	UTSW	11	48948255	missense	probably damaging	1.00
R9574:9930111J21Rik1	UTSW	11	48947669	missense	probably damaging	1.00
R9687:9930111J21Rik1	UTSW	11	48948422	missense	probably damaging	1.00
X0067:9930111J21Rik1	UTSW	11	48948042	missense	probably damaging	1.00

Posted On

2016-08-02