Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00896:Zswim8'

28918

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zswim8

Ensembl Gene

ENSMUSG00000021819

Gene Name

zinc finger SWIM-type containing 8

Synonyms

2310021P13Rik, 4832404P21Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL00896

Quality Score

Status

Chromosome

Chromosomal Location

20757620-20773687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20766069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 785 (E785G)

Ref Sequence

ENSEMBL: ENSMUSP00000153285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000223840] [ENSMUST00000224129] [ENSMUST00000224751]

AlphaFold

Q3UHH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022358
AA Change: E785G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: E785G

Domain	Start	End	E-Value	Type
low complexity region	50	66	N/A	INTRINSIC
low complexity region	89	102	N/A	INTRINSIC
low complexity region	390	405	N/A	INTRINSIC
low complexity region	578	612	N/A	INTRINSIC
low complexity region	736	751	N/A	INTRINSIC
low complexity region	1000	1015	N/A	INTRINSIC
low complexity region	1120	1135	N/A	INTRINSIC
low complexity region	1176	1211	N/A	INTRINSIC
low complexity region	1259	1270	N/A	INTRINSIC
low complexity region	1343	1355	N/A	INTRINSIC
low complexity region	1470	1487	N/A	INTRINSIC
low complexity region	1491	1511	N/A	INTRINSIC
low complexity region	1527	1542	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223782

Predicted Effect

probably damaging
Transcript: ENSMUST00000223840
AA Change: E751G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000224129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224485

Predicted Effect

probably damaging
Transcript: ENSMUST00000224751
AA Change: E785G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225332

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	G	12: 113,509,030 (GRCm39)	T468A	possibly damaging	Het
Ankrd35	A	G	3: 96,591,592 (GRCm39)	E626G	probably damaging	Het
Arhgef4	A	G	1: 34,850,777 (GRCm39)	Y1812C	possibly damaging	Het
Aurkc	T	C	7: 7,005,513 (GRCm39)	Y260H	possibly damaging	Het
Bltp1	A	G	3: 37,093,611 (GRCm39)	T4352A	probably benign	Het
Cpb1	A	G	3: 20,306,193 (GRCm39)	V329A	probably benign	Het
Cyp2d11	G	T	15: 82,275,275 (GRCm39)		probably benign	Het
Dnase1	G	A	16: 3,857,076 (GRCm39)	S28N	probably benign	Het
Drgx	C	T	14: 32,327,171 (GRCm39)		probably benign	Het
Evpl	C	A	11: 116,113,410 (GRCm39)	E1427*	probably null	Het
Gimap6	T	C	6: 48,679,394 (GRCm39)	N214S	probably benign	Het
Htr1f	A	T	16: 64,746,469 (GRCm39)	H274Q	probably benign	Het
Ipo9	A	T	1: 135,327,797 (GRCm39)	V538E	probably damaging	Het
Lmf2	T	C	15: 89,237,539 (GRCm39)	K308E	probably benign	Het
Mog	T	A	17: 37,328,377 (GRCm39)		probably null	Het
Myo19	T	C	11: 84,800,324 (GRCm39)	V903A	probably benign	Het
Myt1l	A	G	12: 29,876,885 (GRCm39)	T179A	unknown	Het
Nckap1	C	T	2: 80,411,297 (GRCm39)	V5M	possibly damaging	Het
Or1e23	T	C	11: 73,407,167 (GRCm39)	N286S	probably damaging	Het
Or51l4	T	C	7: 103,404,213 (GRCm39)	D193G	probably damaging	Het
Or9a2	A	T	6: 41,749,047 (GRCm39)	L62Q	probably damaging	Het
Pcdhb5	T	G	18: 37,455,838 (GRCm39)		probably null	Het
Pcm1	C	A	8: 41,729,160 (GRCm39)	Q711K	possibly damaging	Het
Pde6a	A	G	18: 61,353,864 (GRCm39)	D63G	possibly damaging	Het
Piezo1	T	C	8: 123,224,609 (GRCm39)	M711V	possibly damaging	Het
Rev1	G	A	1: 38,138,021 (GRCm39)	T88I	probably damaging	Het
Sntg1	A	T	1: 8,665,634 (GRCm39)		probably null	Het
Sult2a1	T	A	7: 13,566,565 (GRCm39)	T137S	probably benign	Het
Txndc15	G	A	13: 55,873,488 (GRCm39)	A283T	probably damaging	Het

Other mutations in Zswim8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Zswim8	APN	14	20,768,543 (GRCm39)	missense	probably damaging	0.99
IGL00470:Zswim8	APN	14	20,773,249 (GRCm39)	missense	probably damaging	1.00
IGL00675:Zswim8	APN	14	20,766,969 (GRCm39)	unclassified	probably benign
IGL01343:Zswim8	APN	14	20,763,409 (GRCm39)	missense	probably damaging	1.00
IGL01736:Zswim8	APN	14	20,764,780 (GRCm39)	missense	probably benign	0.11
IGL01961:Zswim8	APN	14	20,762,402 (GRCm39)	missense	possibly damaging	0.76
IGL02331:Zswim8	APN	14	20,773,325 (GRCm39)	missense	probably damaging	1.00
IGL02485:Zswim8	APN	14	20,761,955 (GRCm39)	missense	probably damaging	0.98
IGL02662:Zswim8	APN	14	20,763,142 (GRCm39)	missense	probably benign	0.14
IGL03001:Zswim8	APN	14	20,764,459 (GRCm39)	missense	probably damaging	1.00
pool	UTSW	14	20,764,641 (GRCm39)	splice site	probably null
R0123:Zswim8	UTSW	14	20,766,558 (GRCm39)	splice site	probably benign
R0362:Zswim8	UTSW	14	20,772,013 (GRCm39)	missense	possibly damaging	0.58
R0402:Zswim8	UTSW	14	20,760,834 (GRCm39)	missense	probably damaging	1.00
R0458:Zswim8	UTSW	14	20,768,965 (GRCm39)	missense	probably damaging	1.00
R1087:Zswim8	UTSW	14	20,767,933 (GRCm39)	splice site	probably null
R1158:Zswim8	UTSW	14	20,771,736 (GRCm39)	splice site	probably benign
R1171:Zswim8	UTSW	14	20,763,181 (GRCm39)	missense	possibly damaging	0.94
R1389:Zswim8	UTSW	14	20,760,816 (GRCm39)	missense	probably damaging	1.00
R1773:Zswim8	UTSW	14	20,761,598 (GRCm39)	missense	probably damaging	0.96
R1780:Zswim8	UTSW	14	20,766,395 (GRCm39)	missense	probably damaging	0.99
R1850:Zswim8	UTSW	14	20,760,815 (GRCm39)	nonsense	probably null
R2421:Zswim8	UTSW	14	20,769,525 (GRCm39)	missense	probably damaging	1.00
R3826:Zswim8	UTSW	14	20,761,157 (GRCm39)	nonsense	probably null
R3965:Zswim8	UTSW	14	20,763,141 (GRCm39)	missense	probably benign
R4301:Zswim8	UTSW	14	20,763,977 (GRCm39)	missense	possibly damaging	0.91
R4499:Zswim8	UTSW	14	20,764,365 (GRCm39)	missense	probably benign	0.05
R4633:Zswim8	UTSW	14	20,768,891 (GRCm39)	missense	probably damaging	1.00
R4675:Zswim8	UTSW	14	20,764,681 (GRCm39)	missense	probably benign
R4958:Zswim8	UTSW	14	20,763,533 (GRCm39)	missense	probably damaging	1.00
R5255:Zswim8	UTSW	14	20,771,719 (GRCm39)	missense	probably damaging	1.00
R5288:Zswim8	UTSW	14	20,768,939 (GRCm39)	missense	possibly damaging	0.92
R5341:Zswim8	UTSW	14	20,766,122 (GRCm39)	missense	probably damaging	1.00
R5495:Zswim8	UTSW	14	20,772,354 (GRCm39)	missense	probably damaging	0.97
R5652:Zswim8	UTSW	14	20,763,495 (GRCm39)	missense	possibly damaging	0.62
R6273:Zswim8	UTSW	14	20,763,521 (GRCm39)	missense	probably benign	0.06
R6281:Zswim8	UTSW	14	20,764,708 (GRCm39)	missense	probably benign	0.02
R6364:Zswim8	UTSW	14	20,763,079 (GRCm39)	missense	probably damaging	1.00
R6426:Zswim8	UTSW	14	20,768,594 (GRCm39)	missense	probably damaging	0.99
R6576:Zswim8	UTSW	14	20,771,942 (GRCm39)	missense	probably benign	0.41
R6798:Zswim8	UTSW	14	20,766,060 (GRCm39)	missense	probably damaging	1.00
R7059:Zswim8	UTSW	14	20,764,641 (GRCm39)	splice site	probably null
R7243:Zswim8	UTSW	14	20,764,436 (GRCm39)	missense	probably damaging	1.00
R7250:Zswim8	UTSW	14	20,770,036 (GRCm39)	missense	probably damaging	1.00
R7311:Zswim8	UTSW	14	20,771,552 (GRCm39)	missense	probably damaging	1.00
R7567:Zswim8	UTSW	14	20,770,001 (GRCm39)	missense	probably damaging	1.00
R7635:Zswim8	UTSW	14	20,766,368 (GRCm39)	missense	probably damaging	0.99
R7771:Zswim8	UTSW	14	20,763,048 (GRCm39)	missense	probably damaging	1.00
R7874:Zswim8	UTSW	14	20,773,217 (GRCm39)	missense	probably damaging	0.98
R7994:Zswim8	UTSW	14	20,758,072 (GRCm39)	missense	possibly damaging	0.95
R8466:Zswim8	UTSW	14	20,760,744 (GRCm39)	missense	possibly damaging	0.93
R9019:Zswim8	UTSW	14	20,761,119 (GRCm39)	missense	probably damaging	1.00
R9177:Zswim8	UTSW	14	20,761,908 (GRCm39)	missense	probably damaging	1.00
R9192:Zswim8	UTSW	14	20,769,588 (GRCm39)	missense	probably damaging	1.00
R9229:Zswim8	UTSW	14	20,766,393 (GRCm39)	missense	probably benign	0.45
R9268:Zswim8	UTSW	14	20,761,908 (GRCm39)	missense	probably damaging	1.00
R9562:Zswim8	UTSW	14	20,762,150 (GRCm39)	nonsense	probably null
R9589:Zswim8	UTSW	14	20,763,171 (GRCm39)	missense	probably damaging	0.99
R9621:Zswim8	UTSW	14	20,772,231 (GRCm39)	missense	probably benign	0.00
X0026:Zswim8	UTSW	14	20,760,700 (GRCm39)	splice site	probably null
X0028:Zswim8	UTSW	14	20,764,725 (GRCm39)	missense	probably benign	0.19
X0058:Zswim8	UTSW	14	20,763,058 (GRCm39)	missense	probably damaging	0.99
Z1177:Zswim8	UTSW	14	20,763,112 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17