Incidental Mutation 'R0774:Psip1'
ID 76978
Institutional Source Beutler Lab
Gene Symbol Psip1
Ensembl Gene ENSMUSG00000028484
Gene Name PC4 and SFRS1 interacting protein 1
Synonyms Psip2
MMRRC Submission 038954-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.513) question?
Stock # R0774 (G1)
Quality Score 217
Status Not validated
Chromosome 4
Chromosomal Location 83373917-83404696 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CACTTACT to CACT at 83378689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030207] [ENSMUST00000107214] [ENSMUST00000107215] [ENSMUST00000123262] [ENSMUST00000124856] [ENSMUST00000143533]
AlphaFold Q99JF8
Predicted Effect probably null
Transcript: ENSMUST00000030207
SMART Domains Protein: ENSMUSP00000030207
Gene: ENSMUSG00000028484

DomainStartEndE-ValueType
PWWP 5 62 1.98e-17 SMART
low complexity region 143 155 N/A INTRINSIC
low complexity region 212 255 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 327 343 N/A INTRINSIC
Pfam:LEDGF 347 448 4.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107214
SMART Domains Protein: ENSMUSP00000102832
Gene: ENSMUSG00000028484

DomainStartEndE-ValueType
PWWP 5 62 1.98e-17 SMART
low complexity region 143 155 N/A INTRINSIC
low complexity region 212 255 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107215
SMART Domains Protein: ENSMUSP00000102833
Gene: ENSMUSG00000028484

DomainStartEndE-ValueType
PWWP 5 62 1.98e-17 SMART
low complexity region 143 155 N/A INTRINSIC
low complexity region 212 255 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 316 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123262
SMART Domains Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124856
SMART Domains Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126706
SMART Domains Protein: ENSMUSP00000120799
Gene: ENSMUSG00000028484

DomainStartEndE-ValueType
low complexity region 1 20 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144349
Predicted Effect probably benign
Transcript: ENSMUST00000143533
SMART Domains Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.8%
  • 20x: 91.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene tend to die perinatally. Survivors show reduced fertility and a variety of skeletal and behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdhr2 C T 13: 54,865,668 (GRCm39) S222F probably damaging Het
Dennd2b C T 7: 109,141,527 (GRCm39) probably null Het
Leng8 T A 7: 4,145,135 (GRCm39) H178Q probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Shox2 C T 3: 66,881,144 (GRCm39) A279T probably damaging Het
Sis T C 3: 72,859,864 (GRCm39) Q297R probably damaging Het
Slc1a6 G T 10: 78,648,658 (GRCm39) V460L probably benign Het
Other mutations in Psip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02414:Psip1 APN 4 83,386,874 (GRCm39) missense probably benign 0.00
IGL02801:Psip1 APN 4 83,376,357 (GRCm39) missense probably benign 0.02
IGL02995:Psip1 APN 4 83,381,954 (GRCm39) intron probably benign
IGL03070:Psip1 APN 4 83,383,318 (GRCm39) missense probably damaging 0.99
IGL03381:Psip1 APN 4 83,404,022 (GRCm39) missense probably benign 0.03
R0167:Psip1 UTSW 4 83,385,055 (GRCm39) splice site probably null
R0288:Psip1 UTSW 4 83,383,196 (GRCm39) missense probably damaging 1.00
R0365:Psip1 UTSW 4 83,403,949 (GRCm39) splice site probably null
R0514:Psip1 UTSW 4 83,378,274 (GRCm39) missense probably damaging 1.00
R0590:Psip1 UTSW 4 83,376,381 (GRCm39) missense probably benign 0.00
R0734:Psip1 UTSW 4 83,381,825 (GRCm39) intron probably benign
R1016:Psip1 UTSW 4 83,378,135 (GRCm39) missense possibly damaging 0.48
R1256:Psip1 UTSW 4 83,392,604 (GRCm39) missense probably benign
R1819:Psip1 UTSW 4 83,376,400 (GRCm39) missense probably benign 0.01
R1993:Psip1 UTSW 4 83,400,769 (GRCm39) missense probably damaging 0.99
R5423:Psip1 UTSW 4 83,378,367 (GRCm39) intron probably benign
R5940:Psip1 UTSW 4 83,394,559 (GRCm39) missense probably damaging 1.00
R6173:Psip1 UTSW 4 83,391,286 (GRCm39) splice site probably null
R6200:Psip1 UTSW 4 83,392,610 (GRCm39) missense probably benign 0.20
R6809:Psip1 UTSW 4 83,386,879 (GRCm39) missense probably benign 0.00
R7488:Psip1 UTSW 4 83,391,275 (GRCm39) critical splice donor site probably null
R8021:Psip1 UTSW 4 83,378,192 (GRCm39) missense possibly damaging 0.75
R8516:Psip1 UTSW 4 83,384,952 (GRCm39) missense probably benign
R9564:Psip1 UTSW 4 83,386,888 (GRCm39) missense possibly damaging 0.80
RF005:Psip1 UTSW 4 83,378,735 (GRCm39) missense probably damaging 1.00
RF024:Psip1 UTSW 4 83,378,735 (GRCm39) missense probably damaging 1.00
Z1176:Psip1 UTSW 4 83,378,111 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- GTTCATCCAGGGCCTCTATGCATC -3'
(R):5'- CGCGTCACCCGAGACAGAATAAATG -3'

Sequencing Primer
(F):5'- TGTTCACGTCCTTCATGACAAAAC -3'
(R):5'- ATATGGGTTTCTCGAAGATTATGAAG -3'
Posted On 2013-10-16