Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03340:Gm21972'

417187

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm21972

Ensembl Gene

ENSMUSG00000094638

Gene Name

predicted gene 21972

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL03340

Quality Score

Status

Chromosome

Chromosomal Location

86061359-86090510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86061450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 887 (A887S)

Ref Sequence

ENSEMBL: ENSMUSP00000027432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027432] [ENSMUST00000139715]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027432
AA Change: A887S

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

SMART Domains

Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229
AA Change: A887S

Domain	Start	End	E-Value	Type
Pfam:PC_rep	441	474	5.1e-9	PFAM
Pfam:PC_rep	476	510	8.4e-8	PFAM
Pfam:PC_rep	511	545	1.1e-7	PFAM
Pfam:HEAT_2	599	693	3.3e-15	PFAM
Pfam:PC_rep	651	685	1.1e-11	PFAM
low complexity region	818	828	N/A	INTRINSIC
low complexity region	837	872	N/A	INTRINSIC
low complexity region	936	949	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000135197
AA Change: A31S

Predicted Effect

probably benign
Transcript: ENSMUST00000139715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152184

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,126,786 (GRCm39)	L26P	probably benign	Het
Aff1	A	T	5: 103,931,670 (GRCm39)	H104L	possibly damaging	Het
Apon	T	C	10: 128,090,847 (GRCm39)	I175T	probably benign	Het
C2cd6	A	C	1: 59,115,830 (GRCm39)	F168V	probably benign	Het
Cgn	C	T	3: 94,685,405 (GRCm39)		probably benign	Het
Cramp1	G	A	17: 25,192,516 (GRCm39)	P956L	probably damaging	Het
Cyp2e1	G	A	7: 140,344,767 (GRCm39)	V78M	probably damaging	Het
Cyp4b1	G	A	4: 115,499,076 (GRCm39)	P97S	probably damaging	Het
Fads2	G	T	19: 10,069,136 (GRCm39)	P96Q	possibly damaging	Het
Fcer2a	T	C	8: 3,738,310 (GRCm39)	D120G	possibly damaging	Het
Fhip1b	A	G	7: 105,038,517 (GRCm39)	S241P	probably damaging	Het
Grk6	A	G	13: 55,601,003 (GRCm39)	D295G	probably damaging	Het
Herc2	T	A	7: 55,740,668 (GRCm39)	V270D	possibly damaging	Het
Kcnk2	T	A	1: 189,027,878 (GRCm39)	I126F	possibly damaging	Het
Kifap3	T	G	1: 163,656,718 (GRCm39)	V346G	possibly damaging	Het
Kpna1	T	A	16: 35,820,616 (GRCm39)	N20K	probably damaging	Het
Krt33b	A	G	11: 99,916,298 (GRCm39)		probably benign	Het
Krtap9-5	T	C	11: 99,839,427 (GRCm39)	C43R	possibly damaging	Het
Lars1	G	A	18: 42,361,715 (GRCm39)		probably benign	Het
Lifr	T	C	15: 7,207,417 (GRCm39)	W540R	probably benign	Het
Lrp1b	A	G	2: 41,358,981 (GRCm39)	S631P	probably damaging	Het
Mbd1	G	T	18: 74,407,553 (GRCm39)	R111L	probably benign	Het
Meltf	C	T	16: 31,711,602 (GRCm39)	T576M	probably damaging	Het
Mmp20	G	A	9: 7,643,995 (GRCm39)	G228S	probably damaging	Het
Mob4	A	G	1: 55,175,867 (GRCm39)	D37G	possibly damaging	Het
Msr1	T	C	8: 40,073,048 (GRCm39)	K234E	possibly damaging	Het
Myof	A	G	19: 37,899,607 (GRCm39)	V1764A	probably damaging	Het
Naaladl1	A	G	19: 6,156,229 (GRCm39)	Y105C	possibly damaging	Het
Nisch	A	G	14: 30,895,101 (GRCm39)	V1065A	probably damaging	Het
Npas4	A	T	19: 5,035,094 (GRCm39)		probably benign	Het
Or4c124	T	C	2: 89,156,039 (GRCm39)	T162A	possibly damaging	Het
Pdss2	A	G	10: 43,269,997 (GRCm39)	D280G	probably benign	Het
Plk3	A	G	4: 116,990,125 (GRCm39)	I182T	probably damaging	Het
Ppm1k	A	G	6: 57,487,711 (GRCm39)	W371R	probably damaging	Het
Samm50	T	C	15: 84,082,864 (GRCm39)		probably null	Het
Scaper	G	T	9: 55,510,116 (GRCm39)	T640K	possibly damaging	Het
Sun3	A	C	11: 8,973,285 (GRCm39)		probably benign	Het
Svep1	T	A	4: 58,111,451 (GRCm39)	K1056M	possibly damaging	Het
Tgs1	C	A	4: 3,604,813 (GRCm39)	P745Q	probably benign	Het
Tomm20l	A	T	12: 71,164,388 (GRCm39)		probably benign	Het
Usp38	A	C	8: 81,738,905 (GRCm39)	L237V	probably damaging	Het
Vmn1r210	T	C	13: 23,011,644 (GRCm39)	Y214C	probably benign	Het
Zan	G	A	5: 137,426,136 (GRCm39)	P2547S	unknown	Het

Other mutations in Gm21972

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6033:Gm21972	UTSW	1	86,064,817 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02