Mutagenetix > Incidental Mutation

Incidental Mutation 'R9169:Sun1'

696253

Institutional Source

Beutler Lab

Gene Symbol

Sun1

Ensembl Gene

ENSMUSG00000036817

Gene Name

Sad1 and UNC84 domain containing 1

Synonyms

4632417G13Rik, 5730434D03Rik, Unc84a

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139186392-139235595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139219273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 360 (S360T)

Ref Sequence

ENSEMBL: ENSMUSP00000056655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058716] [ENSMUST00000078690] [ENSMUST00000110882] [ENSMUST00000110883] [ENSMUST00000110884] [ENSMUST00000135720]

AlphaFold

Q9D666

Predicted Effect

probably benign
Transcript: ENSMUST00000058716
AA Change: S360T

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817
AA Change: S360T

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	334	450	2e-3	SMART
low complexity region	466	475	N/A	INTRINSIC
coiled coil region	492	527	N/A	INTRINSIC
SCOP:d1eq1a_	572	689	3e-3	SMART
Pfam:Sad1_UNC	777	911	2.2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078690
AA Change: S296T

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817
AA Change: S296T

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	270	386	2e-3	SMART
low complexity region	402	411	N/A	INTRINSIC
coiled coil region	428	463	N/A	INTRINSIC
SCOP:d1eq1a_	508	625	2e-3	SMART
Pfam:Sad1_UNC	713	847	1.9e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110882

SMART Domains

Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
low complexity region	263	271	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
coiled coil region	336	371	N/A	INTRINSIC
SCOP:d1eq1a_	416	533	4e-3	SMART
Pfam:Sad1_UNC	621	755	7.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110883
AA Change: S237T

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817
AA Change: S237T

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	233	327	4e-3	SMART
low complexity region	343	352	N/A	INTRINSIC
coiled coil region	369	404	N/A	INTRINSIC
SCOP:d1eq1a_	449	566	3e-3	SMART
Pfam:Sad1_UNC	654	788	1.7e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110884
AA Change: S323T

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817
AA Change: S323T

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
Pfam:MRP	274	381	1.8e-8	PFAM
low complexity region	382	390	N/A	INTRINSIC
low complexity region	429	438	N/A	INTRINSIC
coiled coil region	455	490	N/A	INTRINSIC
SCOP:d1eq1a_	535	652	4e-3	SMART
Pfam:Sad1_UNC	740	874	2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128817

SMART Domains

Protein: ENSMUSP00000119587
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
coiled coil region	58	126	N/A	INTRINSIC
PDB:4DXS\|A	207	258	1e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000135720

SMART Domains

Protein: ENSMUSP00000122785
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	14	33	N/A	INTRINSIC
ZnF_C2H2	98	120	5.2e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135926

SMART Domains

Protein: ENSMUSP00000114488
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
ZnF_C2H2	11	33	5.2e0	SMART
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	149	171	N/A	INTRINSIC
low complexity region	202	211	N/A	INTRINSIC
coiled coil region	227	255	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (92/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	T	7: 41,261,109 (GRCm39)		probably benign	Het
9330182O14Rik	A	T	15: 40,005,632 (GRCm39)	K17*	probably null	Het
Adamtsl3	A	C	7: 82,223,188 (GRCm39)	I990L	probably damaging	Het
Add1	T	A	5: 34,788,122 (GRCm39)	S724T	possibly damaging	Het
Afdn	A	G	17: 14,072,627 (GRCm39)	N865S	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ap1m2	T	A	9: 21,223,523 (GRCm39)	I8F	probably benign	Het
Atp8a1	T	C	5: 67,824,944 (GRCm39)	T811A		Het
Axin2	A	G	11: 108,822,378 (GRCm39)	D310G	probably damaging	Het
Bin1	T	G	18: 32,562,251 (GRCm39)	F379L	possibly damaging	Het
Bin2	C	A	15: 100,554,631 (GRCm39)	S91I	possibly damaging	Het
Birc5	A	G	11: 117,743,599 (GRCm39)	N111S	probably benign	Het
Blk	T	A	14: 63,620,130 (GRCm39)	N137Y	probably damaging	Het
Cacna1d	G	A	14: 29,796,873 (GRCm39)	A1534V	probably damaging	Het
Cacna2d1	T	C	5: 16,451,757 (GRCm39)	V207A	probably damaging	Het
Ccr3	A	G	9: 123,828,949 (GRCm39)	I95V	probably benign	Het
Celsr2	T	C	3: 108,309,862 (GRCm39)	D1579G	probably benign	Het
Cfap36	C	A	11: 29,196,541 (GRCm39)	K19N	probably benign	Het
Cfap52	C	T	11: 67,844,860 (GRCm39)	V70M	possibly damaging	Het
Chid1	A	T	7: 141,093,722 (GRCm39)	I298N	probably damaging	Het
Clstn1	G	T	4: 149,731,322 (GRCm39)	R888L	possibly damaging	Het
Col6a5	T	A	9: 105,822,596 (GRCm39)	T254S	unknown	Het
Coro6	C	T	11: 77,359,329 (GRCm39)	P301S	probably damaging	Het
Cstdc2	A	G	2: 148,692,589 (GRCm39)		probably null	Het
Dchs1	T	C	7: 105,422,114 (GRCm39)	D102G	probably damaging	Het
Dnah14	T	C	1: 181,433,381 (GRCm39)	F353L	probably benign	Het
Dnajc10	A	T	2: 80,163,315 (GRCm39)	I344L	probably benign	Het
Dst	T	C	1: 34,303,652 (GRCm39)	V4026A	probably damaging	Het
Exo1	A	G	1: 175,715,203 (GRCm39)	E114G	possibly damaging	Het
Fabp7	A	G	10: 57,662,439 (GRCm39)	I109V	probably benign	Het
Fars2	T	C	13: 36,416,109 (GRCm39)	F206S	probably damaging	Het
Gbp8	C	T	5: 105,179,155 (GRCm39)	A115T	possibly damaging	Het
Gm17067	T	C	7: 42,357,627 (GRCm39)	T292A	probably benign	Het
Gp2	T	C	7: 119,041,929 (GRCm39)	D532G	probably benign	Het
Gtf2i	C	A	5: 134,271,534 (GRCm39)	A917S	probably damaging	Het
Guca1b	A	G	17: 47,702,827 (GRCm39)	E169G	possibly damaging	Het
Hdac1	A	T	4: 129,428,499 (GRCm39)	Y24N	probably damaging	Het
Hepacam	T	C	9: 37,293,693 (GRCm39)	F251L	probably damaging	Het
Hmcn1	G	T	1: 150,506,092 (GRCm39)	N3811K	probably damaging	Het
Htra4	A	T	8: 25,520,133 (GRCm39)	M391K	probably damaging	Het
Ino80d	T	C	1: 63,097,930 (GRCm39)	T760A	probably benign	Het
Ints1	T	G	5: 139,748,586 (GRCm39)	T1074P	probably benign	Het
Itga6	A	T	2: 71,647,015 (GRCm39)	Q75L	possibly damaging	Het
Mapk14	A	C	17: 28,960,814 (GRCm39)	N272T	probably benign	Het
Meikin	A	T	11: 54,285,517 (GRCm39)	T185S	possibly damaging	Het
Moxd2	C	T	6: 40,860,490 (GRCm39)	G318D	possibly damaging	Het
Mtmr3	G	A	11: 4,437,739 (GRCm39)	T905I	probably benign	Het
Muc16	A	G	9: 18,567,824 (GRCm39)	I1565T	unknown	Het
Myh14	A	G	7: 44,271,281 (GRCm39)	S1500P	possibly damaging	Het
Nfkb1	T	C	3: 135,310,874 (GRCm39)	E475G	probably benign	Het
Ngef	C	A	1: 87,473,581 (GRCm39)	R67L	probably benign	Het
Olr1	T	C	6: 129,470,528 (GRCm39)	E213G	probably damaging	Het
Or13c3	T	A	4: 52,856,052 (GRCm39)	I154F	probably damaging	Het
Or5b124	A	G	19: 13,610,903 (GRCm39)	I143V	probably benign	Het
Or8g21	A	G	9: 38,906,573 (GRCm39)	S53P	probably benign	Het
Or9r3	A	C	10: 129,947,723 (GRCm39)	I312R	probably benign	Het
Pcdhga3	C	T	18: 37,809,088 (GRCm39)	L514F	probably damaging	Het
Pcnt	A	G	10: 76,221,572 (GRCm39)	M2018T	possibly damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pik3ca	T	C	3: 32,503,755 (GRCm39)		probably null	Het
Psapl1	A	G	5: 36,362,880 (GRCm39)	S491G	possibly damaging	Het
Psmf1	A	T	2: 151,577,457 (GRCm39)	D73E	probably benign	Het
Ptprcap	A	G	19: 4,206,358 (GRCm39)	D147G	probably benign	Het
Ramacl	T	C	13: 67,056,063 (GRCm39)	F19L	probably damaging	Het
Rdh8	T	A	9: 20,736,935 (GRCm39)	V309E	possibly damaging	Het
Rhobtb3	T	A	13: 76,041,121 (GRCm39)	T396S	probably benign	Het
Rpa1	A	T	11: 75,200,999 (GRCm39)	L475*	probably null	Het
Rtkn	T	A	6: 83,129,190 (GRCm39)	S562T	probably damaging	Het
Saxo5	A	T	8: 3,525,967 (GRCm39)	Y40F	possibly damaging	Het
Scamp1	C	T	13: 94,389,533 (GRCm39)	D35N	probably benign	Het
Scarb1	C	T	5: 125,371,146 (GRCm39)	A309T	probably damaging	Het
Scube1	G	A	15: 83,543,298 (GRCm39)	T180M	possibly damaging	Het
Sez6	T	G	11: 77,868,473 (GRCm39)	F945V	probably damaging	Het
Sf3a1	C	T	11: 4,116,681 (GRCm39)	T124M	probably benign	Het
Smchd1	T	C	17: 71,722,659 (GRCm39)	K759E	probably damaging	Het
Sort1	C	A	3: 108,247,994 (GRCm39)	C446*	probably null	Het
Supv3l1	A	G	10: 62,268,238 (GRCm39)	F536L	probably damaging	Het
Taar6	A	C	10: 23,861,273 (GRCm39)	V91G	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Thoc2l	T	A	5: 104,666,348 (GRCm39)	L290H	probably damaging	Het
Tmc2	T	A	2: 130,083,516 (GRCm39)	I491N	probably damaging	Het
Trmt112	T	C	19: 6,888,187 (GRCm39)	I113T	probably damaging	Het
Ttc14	C	T	3: 33,857,071 (GRCm39)	Q183*	probably null	Het
Txndc16	T	A	14: 45,373,385 (GRCm39)	D748V	probably damaging	Het
Xkr6	A	G	14: 63,844,067 (GRCm39)	D30G	possibly damaging	Het
Zc3h14	C	T	12: 98,745,505 (GRCm39)	S498L	probably damaging	Het
Zc3h7b	A	C	15: 81,661,184 (GRCm39)	D341A	probably benign	Het
Zfp108	T	A	7: 23,960,923 (GRCm39)	C505S	probably damaging	Het
Zfp354c	A	C	11: 50,706,088 (GRCm39)	L329R	probably damaging	Het
Zfyve16	T	A	13: 92,657,871 (GRCm39)	D680V	probably damaging	Het
Znfx1	A	G	2: 166,897,185 (GRCm39)	F580L	probably benign	Het

Other mutations in Sun1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Sun1	APN	5	139,220,440 (GRCm39)	critical splice acceptor site	probably null
IGL01364:Sun1	APN	5	139,220,496 (GRCm39)	missense	probably damaging	1.00
IGL02142:Sun1	APN	5	139,216,918 (GRCm39)	missense	possibly damaging	0.95
IGL02251:Sun1	APN	5	139,227,186 (GRCm39)	missense	probably damaging	1.00
IGL02939:Sun1	APN	5	139,221,243 (GRCm39)	splice site	probably benign
IGL03253:Sun1	APN	5	139,209,341 (GRCm39)	splice site	probably benign
IGL03370:Sun1	APN	5	139,216,886 (GRCm39)	missense	probably damaging	0.96
PIT4418001:Sun1	UTSW	5	139,212,343 (GRCm39)	missense	probably damaging	0.97
R0124:Sun1	UTSW	5	139,232,434 (GRCm39)	unclassified	probably benign
R0145:Sun1	UTSW	5	139,227,166 (GRCm39)	missense	probably damaging	0.98
R0376:Sun1	UTSW	5	139,212,454 (GRCm39)	unclassified	probably benign
R0512:Sun1	UTSW	5	139,220,602 (GRCm39)	splice site	probably benign
R0729:Sun1	UTSW	5	139,223,619 (GRCm39)	unclassified	probably benign
R0733:Sun1	UTSW	5	139,216,918 (GRCm39)	missense	possibly damaging	0.63
R1188:Sun1	UTSW	5	139,224,611 (GRCm39)	missense	probably damaging	0.98
R1724:Sun1	UTSW	5	139,221,480 (GRCm39)	missense	probably benign
R1733:Sun1	UTSW	5	139,216,544 (GRCm39)	missense	possibly damaging	0.82
R1913:Sun1	UTSW	5	139,221,487 (GRCm39)	critical splice donor site	probably null
R2033:Sun1	UTSW	5	139,211,193 (GRCm39)	missense	probably damaging	1.00
R2200:Sun1	UTSW	5	139,216,974 (GRCm39)	missense	probably benign	0.11
R3084:Sun1	UTSW	5	139,221,356 (GRCm39)	missense	probably benign	0.41
R3085:Sun1	UTSW	5	139,221,356 (GRCm39)	missense	probably benign	0.41
R3771:Sun1	UTSW	5	139,224,575 (GRCm39)	unclassified	probably benign
R3772:Sun1	UTSW	5	139,224,575 (GRCm39)	unclassified	probably benign
R3804:Sun1	UTSW	5	139,211,117 (GRCm39)	nonsense	probably null
R4300:Sun1	UTSW	5	139,213,349 (GRCm39)	unclassified	probably benign
R4428:Sun1	UTSW	5	139,220,230 (GRCm39)	intron	probably benign
R4993:Sun1	UTSW	5	139,211,088 (GRCm39)	missense	possibly damaging	0.84
R5075:Sun1	UTSW	5	139,212,646 (GRCm39)	splice site	probably null
R5363:Sun1	UTSW	5	139,220,498 (GRCm39)	missense	probably damaging	1.00
R5826:Sun1	UTSW	5	139,231,171 (GRCm39)	missense	probably damaging	1.00
R6753:Sun1	UTSW	5	139,201,014 (GRCm39)	splice site	probably null
R7218:Sun1	UTSW	5	139,212,442 (GRCm39)	missense	unknown
R7320:Sun1	UTSW	5	139,234,239 (GRCm39)	missense	probably damaging	1.00
R7448:Sun1	UTSW	5	139,232,589 (GRCm39)	missense	probably damaging	1.00
R7494:Sun1	UTSW	5	139,221,475 (GRCm39)	missense	probably benign
R8398:Sun1	UTSW	5	139,222,408 (GRCm39)	missense	probably damaging	1.00
R8756:Sun1	UTSW	5	139,222,444 (GRCm39)	missense	probably damaging	0.99
R8772:Sun1	UTSW	5	139,209,447 (GRCm39)	missense	probably benign	0.00
R8804:Sun1	UTSW	5	139,216,920 (GRCm39)	missense	probably benign	0.05
R8924:Sun1	UTSW	5	139,209,390 (GRCm39)	missense	probably damaging	1.00
R9124:Sun1	UTSW	5	139,231,121 (GRCm39)	nonsense	probably null
R9262:Sun1	UTSW	5	139,200,918 (GRCm39)	missense	unknown
R9558:Sun1	UTSW	5	139,211,019 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTCCTGGCTTAGTACAAGAG -3'
(R):5'- GGTCAGGCTATGGATCATGC -3'

Sequencing Primer
(F):5'- AGGGAGTTTGTATACTGGAAACC -3'
(R):5'- CTATGGATCATGCGGCCTGAG -3'

Posted On

2022-02-07