Mutagenetix > Incidental Mutation

Incidental Mutation 'R9268:Zswim8'

702701

Institutional Source

Beutler Lab

Gene Symbol

Zswim8

Ensembl Gene

ENSMUSG00000021819

Gene Name

zinc finger SWIM-type containing 8

Synonyms

2310021P13Rik, 4832404P21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R9268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20707552-20723619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20711840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 227 (L227P)

Ref Sequence

ENSEMBL: ENSMUSP00000022358 (fasta)

Gene Model

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

AlphaFold

Q3UHH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022358
AA Change: L227P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: L227P

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

probably damaging
Transcript: ENSMUST00000223840
AA Change: L227P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000224129

Predicted Effect

probably damaging
Transcript: ENSMUST00000224751
AA Change: L227P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 90,061,723	T218A	possibly damaging	Het
Acadsb	C	T	7: 131,432,034	T260I	probably damaging	Het
Acap2	A	T	16: 31,136,574	V161E	probably damaging	Het
Adnp	A	G	2: 168,189,313	I26T	possibly damaging	Het
Alk	T	C	17: 71,874,195	T1367A	probably damaging	Het
Apoa5	A	T	9: 46,270,421	D265V	probably benign	Het
Asb15	G	A	6: 24,566,299	R417H	probably benign	Het
Atg2a	A	C	19: 6,241,875	H27P	probably damaging	Het
Bace1	G	T	9: 45,855,984		probably benign	Het
Camk1d	A	G	2: 5,299,090	S351P	probably benign	Het
Carf	C	A	1: 60,109,399	Q85K	possibly damaging	Het
Cdh19	A	G	1: 110,949,381	F76S	probably damaging	Het
Ces1b	A	C	8: 93,071,955	V201G	probably damaging	Het
Clk1	A	G	1: 58,419,723	L133S	unknown	Het
Clstn3	G	A	6: 124,456,921	L427F	probably damaging	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Cyp2j11	A	T	4: 96,319,544		probably benign	Het
Dctn4	T	A	18: 60,526,232	M1K	probably null	Het
Dnah12	A	G	14: 26,849,298	K2788R	possibly damaging	Het
Dtna	T	A	18: 23,569,586	V58D	possibly damaging	Het
Egfr	T	A	11: 16,905,410	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,441,220		probably null	Het
Enam	A	G	5: 88,492,919	M147V	probably benign	Het
Etaa1	A	T	11: 17,946,419	V566E	probably damaging	Het
F13a1	C	T	13: 36,892,936	G593D	probably benign	Het
Fam126b	T	C	1: 58,552,202	D94G	probably damaging	Het
Far2	C	T	6: 148,158,920	T257I	probably benign	Het
Fat4	C	T	3: 38,888,247	R430C	probably damaging	Het
Fhod3	T	C	18: 24,709,775		probably null	Het
Fuca2	G	A	10: 13,514,819	W453*	probably null	Het
Gm11238	T	C	4: 73,657,136	S351P	probably damaging	Het
Hfe2	T	C	3: 96,528,565	F380L	probably benign	Het
Igkv4-72	A	T	6: 69,226,996	Y70*	probably null	Het
Kdm1b	A	C	13: 47,064,229	N388T	probably benign	Het
Klri2	A	T	6: 129,733,074	W188R	probably damaging	Het
Lama4	A	G	10: 39,074,692	Y997C	probably damaging	Het
Lrrc73	T	C	17: 46,254,609	S89P	probably benign	Het
Macf1	T	C	4: 123,473,789	E2393G	probably damaging	Het
Mfsd14b	A	G	13: 65,075,041	L265P	probably damaging	Het
Myo3b	A	C	2: 70,426,961	*1334C	probably null	Het
Nfatc4	A	T	14: 55,827,228	I391F	probably damaging	Het
Nlgn1	A	T	3: 25,436,384	M393K	probably damaging	Het
Olfr1499	A	T	19: 13,815,024	C189S	probably damaging	Het
Olfr183	T	G	16: 58,999,720	F12V	probably damaging	Het
Otogl	A	T	10: 107,781,056	C1787S	probably damaging	Het
Papola	A	G	12: 105,799,773	E44G	probably benign	Het
Parp1	A	G	1: 180,587,944	K443E	possibly damaging	Het
Pcdh15	A	T	10: 74,643,623	E522V	probably benign	Het
Peli2	A	G	14: 48,281,470	E225G	probably benign	Het
Pus7l	T	C	15: 94,533,564	I395V	probably benign	Het
Rmi1	T	C	13: 58,408,039	I34T	probably damaging	Het
Rnf220	A	G	4: 117,489,636	I193T	probably benign	Het
Rpgrip1l	T	C	8: 91,280,727	T412A	probably benign	Het
Shisa7	T	G	7: 4,834,334	D244A	probably damaging	Het
Slco3a1	T	C	7: 74,303,198	T538A	probably benign	Het
Sptlc1	A	T	13: 53,358,836	I162N	probably damaging	Het
Ssrp1	C	A	2: 85,040,262		probably benign	Het
Sytl2	A	G	7: 90,385,151	N523S	probably benign	Het
Tcf20	A	G	15: 82,856,504	S249P	probably benign	Het
Thumpd3	T	A	6: 113,066,858	F411L	probably damaging	Het
Ttc30a1	A	T	2: 75,980,935	V268E	probably benign	Het
Ttn	A	G	2: 76,937,735	W3007R	unknown	Het
Ulbp1	A	T	10: 7,446,392	L295Q	unknown	Het
Vmn1r29	T	A	6: 58,307,592	V99E	probably damaging	Het
Wdr47	T	C	3: 108,618,496	F112L	probably benign	Het
Wnk2	A	G	13: 49,082,031	V636A	possibly damaging	Het

Other mutations in Zswim8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Zswim8	APN	14	20718475	missense	probably damaging	0.99
IGL00470:Zswim8	APN	14	20723181	missense	probably damaging	1.00
IGL00675:Zswim8	APN	14	20716901	unclassified	probably benign
IGL00896:Zswim8	APN	14	20716001	missense	probably damaging	1.00
IGL01343:Zswim8	APN	14	20713341	missense	probably damaging	1.00
IGL01736:Zswim8	APN	14	20714712	missense	probably benign	0.11
IGL01961:Zswim8	APN	14	20712334	missense	possibly damaging	0.76
IGL02331:Zswim8	APN	14	20723257	missense	probably damaging	1.00
IGL02485:Zswim8	APN	14	20711887	missense	probably damaging	0.98
IGL02662:Zswim8	APN	14	20713074	missense	probably benign	0.14
IGL03001:Zswim8	APN	14	20714391	missense	probably damaging	1.00
pool	UTSW	14	20714573	splice site	probably null
R0123:Zswim8	UTSW	14	20716490	splice site	probably benign
R0362:Zswim8	UTSW	14	20721945	missense	possibly damaging	0.58
R0402:Zswim8	UTSW	14	20710766	missense	probably damaging	1.00
R0458:Zswim8	UTSW	14	20718897	missense	probably damaging	1.00
R1087:Zswim8	UTSW	14	20717865	splice site	probably null
R1158:Zswim8	UTSW	14	20721668	splice site	probably benign
R1171:Zswim8	UTSW	14	20713113	missense	possibly damaging	0.94
R1389:Zswim8	UTSW	14	20710748	missense	probably damaging	1.00
R1773:Zswim8	UTSW	14	20711530	missense	probably damaging	0.96
R1780:Zswim8	UTSW	14	20716327	missense	probably damaging	0.99
R1850:Zswim8	UTSW	14	20710747	nonsense	probably null
R2421:Zswim8	UTSW	14	20719457	missense	probably damaging	1.00
R3826:Zswim8	UTSW	14	20711089	nonsense	probably null
R3965:Zswim8	UTSW	14	20713073	missense	probably benign
R4301:Zswim8	UTSW	14	20713909	missense	possibly damaging	0.91
R4499:Zswim8	UTSW	14	20714297	missense	probably benign	0.05
R4633:Zswim8	UTSW	14	20718823	missense	probably damaging	1.00
R4675:Zswim8	UTSW	14	20714613	missense	probably benign
R4958:Zswim8	UTSW	14	20713465	missense	probably damaging	1.00
R5255:Zswim8	UTSW	14	20721651	missense	probably damaging	1.00
R5288:Zswim8	UTSW	14	20718871	missense	possibly damaging	0.92
R5341:Zswim8	UTSW	14	20716054	missense	probably damaging	1.00
R5495:Zswim8	UTSW	14	20722286	missense	probably damaging	0.97
R5652:Zswim8	UTSW	14	20713427	missense	possibly damaging	0.62
R6273:Zswim8	UTSW	14	20713453	missense	probably benign	0.06
R6281:Zswim8	UTSW	14	20714640	missense	probably benign	0.02
R6364:Zswim8	UTSW	14	20713011	missense	probably damaging	1.00
R6426:Zswim8	UTSW	14	20718526	missense	probably damaging	0.99
R6576:Zswim8	UTSW	14	20721874	missense	probably benign	0.41
R6798:Zswim8	UTSW	14	20715992	missense	probably damaging	1.00
R7059:Zswim8	UTSW	14	20714573	splice site	probably null
R7243:Zswim8	UTSW	14	20714368	missense	probably damaging	1.00
R7250:Zswim8	UTSW	14	20719968	missense	probably damaging	1.00
R7311:Zswim8	UTSW	14	20721484	missense	probably damaging	1.00
R7567:Zswim8	UTSW	14	20719933	missense	probably damaging	1.00
R7635:Zswim8	UTSW	14	20716300	missense	probably damaging	0.99
R7771:Zswim8	UTSW	14	20712980	missense	probably damaging	1.00
R7874:Zswim8	UTSW	14	20723149	missense	probably damaging	0.98
R7994:Zswim8	UTSW	14	20708004	missense	possibly damaging	0.95
R8466:Zswim8	UTSW	14	20710676	missense	possibly damaging	0.93
R9019:Zswim8	UTSW	14	20711051	missense	probably damaging	1.00
R9177:Zswim8	UTSW	14	20711840	missense	probably damaging	1.00
R9192:Zswim8	UTSW	14	20719520	missense	probably damaging	1.00
R9229:Zswim8	UTSW	14	20716325	missense	probably benign	0.45
R9562:Zswim8	UTSW	14	20712082	nonsense	probably null
R9589:Zswim8	UTSW	14	20713103	missense	probably damaging	0.99
R9621:Zswim8	UTSW	14	20722163	missense	probably benign	0.00
X0026:Zswim8	UTSW	14	20710632	splice site	probably null
X0028:Zswim8	UTSW	14	20714657	missense	probably benign	0.19
X0058:Zswim8	UTSW	14	20712990	missense	probably damaging	0.99
Z1177:Zswim8	UTSW	14	20713044	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGATGTTTGACCGCTGC -3'
(R):5'- AACAAGGCACAGGTGAATCC -3'

Sequencing Primer
(F):5'- TTCCGCATTCACAACGTGAGG -3'
(R):5'- GCACAGGTGAATCCAAAGAGTCC -3'

Posted On

2022-03-25